부산대학교 도서관

Zweier, Christiane ; Thiel, Christian T ; Dufke, Andreas ; Crow, Yanick J ; Meinecke, Peter ; Suri, Mohnish ; Ala-Mello, Sirpa ; Beemer, Frits ; Bernasconi, Sergio ; Bianchi, Paolo ; Bier, Andrea ; Devriendt, Koen ; Dimitrov, Boyan ; Firth, Helen ; Gallagher, Renata C ; Garavelli, Livia ; Gillessen-Kaesbach, Gabriele ; Hudgins, Louanne ; Kääriäinen, Helena ; Karstens, Susan ; Krantz, Ian ; Mannhardt, Anca ; Medne, Livija ; Mücke, Jürgen ; Kibaek, Maria ; Krogh, Lotte Nylandsted ; Peippo, Maarit ; Rittinger, Olaf ; Schulz, Solveig ; L Schelley, Susan ; Temple, I Karen ; Dennis, Nick R ; Van der Knaap, Marjo S ; Wheeler, Patricia ; Yerushalmi, Baruch ; Zenker, Martin ; Seidel, Heide ; Lachmeijer, A ; Prescott, Trine ; Kraus, Cornelia ; Lowry, R Brian ; Rauch, Anita

In European Journal of Medical Genetics 2005 48(2):97-111

Shear MA; Division of Maternal-Fetal Medicine and Reproductive Genetics, Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, 490 Illinois Street, Box 0132, San Francisco, CA 94143, USA.; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA 94143, USA.; LaTray A; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA 94143, USA.; Chang IJ; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA 94143, USA.; Post A; Division of Maternal-Fetal Medicine and Reproductive Genetics, Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, 490 Illinois Street, Box 0132, San Francisco, CA 94143, USA.; Gallagher RC; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA 94143, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101578790 Publication Model: Electronic Cited Medium: Print ISSN: 2218-1989 (Print) Linking ISSN: 22181989 NLM ISO Abbreviation: Metabolites Subsets: PubMed not MEDLINE

McInnes, Gregory; Sharo, Andrew G; Koleske, Megan L; Brown, Julia EH; Norstad, Matthew; Adhikari, Aashish N; Wang, Sheng; Brenner, Steven E; Halpern, Jodi; Koenig, Barbara A; Magnus, David C; Gallagher, Renata C; Giacomini, Kathleen M; Altman, Russ B

Am J Hum Genet
American Journal of Human Genetics, vol 108, iss 4

Wasserstein MP; Children's Hospital at Montefiore and the Albert Einstein College of Medicine, 3411 Wayne Ave, 9th Floor, Bronx, NY, 10467, USA. melissa.wasserstein@einsteinmed.edu.; Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.; Hollak C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Barbato A; Department of Clinical Medicine and Surgery, University of Naples 'Federico II', Naples, Italy.; Gallagher RC; Department of Pediatrics, The University of California San Francisco, San Francisco, CA, USA.; Giugliani R; Postgraduate Program in Genetics and Molecular Biology, Med Genet Serv & DR Brasil, HCPA, INAGEMP, DASA, and Casa Dos Raros, UFRGS, Porto Alegre, Brazil.; Guelbert NB; Reina Fabiola University Clinic, Córdoba, Argentina.; Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany.; Ikezoe T; Department of Hematology, Fukushima Medical University, Fukushima, Japan.; Lidove O; Department of Internal Medicine, La Croix St Simon Hospital, Paris, France.; Mabe P; Clinica Santa Maria, Santiago, Chile.; Mengel E; Clinical Science for LSD, SpinCS, Hochheim, Germany.; Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100, Udine, Italy.; Senates E; Istanbul Medeniyet University, Istanbul, Turkey.; Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia.; Villarrubia J; Hematology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Thurberg BL; Sanofi, Cambridge, MA, USA.; Yarramaneni A; Sanofi, Bridgewater, NJ, USA.; Armstrong NM; Sanofi, Cambridge, MA, USA.; Kim Y; Sanofi, Paris, France.; Kumar M; Sanofi, Bridgewater, NJ, USA.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Slavotinek A; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA. anne.slavotinek@cchmc.org.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. anne.slavotinek@cchmc.org.; Rego S; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Sahin-Hodoglugil N; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Kvale M; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Department of Epidemiology & Biostatistics, University of California San Francisco, San Francisco, CA, USA.; Lianoglou B; Department of Surgery, University of California, San Francisco, San Francisco, CA, USA.; Yip T; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Hoban H; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Outram S; Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA, USA.; Anguiano B; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA, USA.; Chen F; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Michelson J; Institute of Human Nutrition, Columbia University Medical Center, New York, NY, USA.; Cilio RM; Division of Pediatric Neurology, Department of Pediatrics, University of Louvain, Brussels, Belgium.; Curry C; Genetic Medicine, University of California, San Francisco, Fresno, CA, USA.; Gallagher RC; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Gardner M; Department of Neurology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.; Kuperman R; Department of Neurology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.; Eysz, Inc, Piedmont, CA, USA.; Mendelsohn B; Division of Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.; Sherr E; Division of Child Neurology, Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Shieh J; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Strober J; Division of Child Neurology, Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Tam A; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Tenney J; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Weiss W; Division of Child Neurology, Zuckerberg San Francisco General Hospital, San Francisco, San Francisco, CA, USA.; Whittle A; Division of Pediatrics, Zuckerberg San Francisco General Hospital, San Francisco, San Francisco, CA, USA.; Chin G; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Faubel A; Department of Surgery, University of California, San Francisco, San Francisco, CA, USA.; Prasad H; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Mavura Y; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Department of Epidemiology & Biostatistics, University of California San Francisco, San Francisco, CA, USA.; Van Ziffle J; Department of Pathology, University of California San Francisco, San Francisco, CA, USA.; Devine WP; Department of Pathology, University of California San Francisco, San Francisco, CA, USA.; Hodoglugil U; Genomic Medicine Laboratory, University of California San Francisco, San Francisco, CA, USA.; Martin PM; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Sparks TN; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, San Francisco, USA.; Koenig B; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Program in Bioethics, University of California, San Francisco, San Francisco, CA, USA.; Ackerman S; Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA, USA.; Department of Social & Behavioral Sciences, School of Nursing, University of California San Francisco, San Francisco, CA, USA.; Risch N; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Department of Epidemiology & Biostatistics, University of California San Francisco, San Francisco, CA, USA.; Kwok PY; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Norton ME; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, San Francisco, USA.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Ivaniuk A; Epilepsy Center, Cleveland Clinic, OH.; Anselm IA; Department of Neurology, Boston Children's Hospital, MA.; Bowen A; Department of Neurology, Boston Children's Hospital, MA.; Cohen BH; Department of Pediatrics, Neurodevelopmental Science Center, Children's Hospital Medical Center of Akron, OH.; Eminoglu FT; Ankara University Faculty of Medicine, Department of Pediatric Metabolism and Rare Diseases Application and Research Center, Turkey.; Estrella J; School of Medicine, Macarthur Clinical School, Western Sydney University, New South Wales, Australia.; Gallagher RC; Institute for Human Genetics, University of California, San Francisco, CA.; Ganetzky RD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine.; Gannon J; Division of Genetics, Children's Mercy Kansas City, MO.; Gorman GS; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University; NHS Highly Specialized Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, United Kingdom.; Greene C; Department of Pediatrics, University of Maryland Medical Center, Baltimore.; Gropman AL; Division of Neurogenetics and Developments Pediatrics, Children's National Health System, Washington, DC.; Haas RH; Department of Neurosciences and Pediatrics, UCSD Medical Center and Rady Children's Hospital San Diego, La Jolla, CA.; Hirano M; Department of Neurology, Columbia University Medical Center, New York, NY.; Kapoor S; Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India.; Karaa A; Pediatric Department, Clinical Genetics Division, Massachusetts General Hospital, Harvard Medical School, Boston.; Koenig MK; Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas McGovern Medical School, Houston.; Kornblum C; Department of Neurology, Neuromuscular Disease Section; Centre for Rare Diseases, University Hospital Bonn, Germany.; Kose E; Ankara University Faculty of Medicine, Department of Pediatric Metabolism and Rare Diseases Application and Research Center, Turkey.; Larson A; Section of Genetics, Department of Pediatrics, University of Colorado Denver and Children's Hospital Colorado, Aurora.; Lichter-Konecki U; Division Medical Genetics, Department of Pediatrics, University of Pittsburgh, School of Medicine, Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, PA.; Lopriore P; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.; McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University; NHS Highly Specialized Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, United Kingdom.; Moe AM; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University; NHS Highly Specialized Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, United Kingdom.; Morava E; Department of Clinical Genomics and Laboratory of Medical Pathology, Mayo Clinic, Rochester, MN.; Ng YS; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University; NHS Highly Specialized Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, United Kingdom.; Saneto RP; Neuroscience Institute, Center for Integrated Brain Research, Department of Neurology and Division of Pediatric Neurology, Seattle Children's Hospital and University of Washington.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine; Texas Children's Hospital; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Chinese University of Hong Kong, China.; Sue CM; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, New South Wales, Australia.; Tarnopolsky M; Department of Pediatrics and Medicine, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Walker MA; Department of Neurology, Massachusetts General Hospital, Boston.; Parikh S; Mitochondrial Medicine Center, Department of Neurology, Center for Child Neurology, Cleveland Clinic Children's Hospital, OH.; Cheuk-Wing F; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital.; Wong TS; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.; Belaramani K; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, China.; Chan CK; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.; Chan WK; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.; Chan WL; Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, China.; Cheung HW; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.; Cheung KY; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.; Chang SK; Department of Medicine, Queen Mary Hospital, Hong Kong, China.; Cheung SN; Department of Medicine and Geriatrics, Kwong Wah Hospital, Hong Kong, China.; Cheung TF; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.; Cheung YF; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, China.; Chong SJ; Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, China.; Chow CJ; Department of Paediatrics and Adolescent Medicine, Queen Elizabeth Hospital, Hong Kong, China.; Chung HB; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong; Hong Kong Genome Institute, China.; Fan SF; Department of Medicine and Therapeutics, Prince of Wales Hospital, Hong Kong, China.; Fok WJ; Department of Medicine, Yan Chai Hospital, Hong Kong, China.; Fong KW; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, China.; Fung TS; Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital, Hong Kong, China.; Hui KF; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.; Hui TH; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.; Hui J; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, China.; Ko CH; Department of Paediatrics and Adolescent Medicine, Caritas Medical Centre, Hong Kong, China.; Kwan MC; Department of Medicine and Geriatrics, Kwong Wah Hospital, Hong Kong, China.; Kwok MA; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, China.; Kwok SJ; Department of Chemical Pathology, Prince of Wales Hospital, Hong Kong, China.; Lai MS; Department of Medicine, North District Hospital, Hong Kong, China.; Lam YO; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.; Lam CW; Department of Pathology, The University of Hong Kong, China.; Lau MC; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China.; Law CE; Department of Chemical Pathology, Queen Mary Hospital, Hong Kong, China.; Law HF; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, China.; Lee WC; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, China.; Hencher Lee HC; Department of Chemical Pathology, Princess Margaret Hospital, Hong Kong, China.; Leung KH; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, China.; Leung KY; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.; Li SH; Department of Medicine, North District Hospital, Hong Kong, China.; Ling TJ; Department of Chemical Pathology, Queen Mary Hospital, Hong Kong, China.; Liu KT; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, China.; Lo FM; Department of Health, Clinical Genetic Service, Hong Kong, China.; Lui C; Department of Medicine, Tseung Kwan O Hospital, Hong Kong, China.; Luk CO; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, China.; Luk HM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, China.; Ma CK; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China.; Ma K; Department of Medicine and Therapeutics, Prince of Wales Hospital, Hong Kong, China.; Ma KH; Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, China.; Mew YN; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.; Mo A; Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital, Hong Kong, China.; Hg SF; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.; Poon WG; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, China.; Sheng B; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, China.; Szeto CC; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.; Tai SM; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, China.; Tang JL; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China.; Tse CA; Department of Medicine, Yan Chai Hospital, Hong Kong, China.; Tsung LL; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, China.; Wong HJ; Department of Medicine and Geriatrics, Caritas Medical Centre, Hong Kong, China.; Wong WW; Department of Medicine and Geriatrics, Caritas Medical Centre, Hong Kong, China.; Wong KK; Department of Medicine, Yan Chai Hospital, Hong Kong, China.; Wong SS; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, China.; Wong CV; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong; Hong Kong Genome Institute, China.; Wong WS; Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China.; Wong CF; Department of Chemical Pathology, Queen Mary Hospital, Hong Kong, China.; Wu SP; Department of Paediatrics and Adolescent Medicine, Queen Elizabeth Hospital, Hong Kong, China.; Wu HJ; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, China.; Yau MM; Department of Paediatrics and Adolescent Medicine, Tseung Kwan O Hospital, Hong Kong, China.; Yau KE; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.; Yeung WL; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, China.; Yeung HJ; Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, China.; Yip KE; Department of Medicine and Geriatrics, Ruttonjee and Tang Shiu Kin Hospitals, Hong Kong, China.; Wu HJ; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, China.; Young PT; Department of Medicine and Geriatrics, Ruttonjee and Tang Shiu Kin Hospitals, Hong Kong, China.; Yuan G; Department of Medicine, Queen Mary Hospital, Hong Kong, China.; Yuen YL; Department of Chemical Pathology, Hong Kong Children's Hospital, China; and.; Yuen CL; Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, People's Republic of China.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Sacoto, Maria J Guillen; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Network, Undiagnosed Diseases; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane

American Journal of Human Genetics, vol 107, iss 2

Slavotinek A; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA. anne.slavotinek@cchmc.org.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. anne.slavotinek@cchmc.org.; Rego S; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Sahin-Hodoglugil N; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Kvale M; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Department of Epidemiology & Biostatistics, University of California San Francisco, San Francisco, CA, USA.; Lianoglou B; Department of Surgery, University of California, San Francisco, San Francisco, CA, USA.; Yip T; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Hoban H; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Outram S; Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA, USA.; Anguiano B; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA, USA.; Chen F; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Michelson J; Institute of Human Nutrition, Columbia University Medical Center, New York, NY, USA.; Cilio RM; Division of Pediatric Neurology, Department of Pediatrics, University of Louvain, Brussels, Belgium.; Curry C; Genetic Medicine, University of California, San Francisco, Fresno, CA, USA.; Gallagher RC; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Gardner M; Department of Neurology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.; Kuperman R; Department of Neurology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.; Eysz, Inc, Piedmont, CA, USA.; Mendelsohn B; Division of Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.; Sherr E; Division of Child Neurology, Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Shieh J; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Strober J; Division of Child Neurology, Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Tam A; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Tenney J; Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.; Weiss W; Division of Child Neurology, Zuckerberg San Francisco General Hospital, San Francisco, San Francisco, CA, USA.; Whittle A; Division of Pediatrics, Zuckerberg San Francisco General Hospital, San Francisco, San Francisco, CA, USA.; Chin G; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Faubel A; Department of Surgery, University of California, San Francisco, San Francisco, CA, USA.; Prasad H; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Mavura Y; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Department of Epidemiology & Biostatistics, University of California San Francisco, San Francisco, CA, USA.; Van Ziffle J; Department of Pathology, University of California San Francisco, San Francisco, CA, USA.; Devine WP; Department of Pathology, University of California San Francisco, San Francisco, CA, USA.; Hodoglugil U; Genomic Medicine Laboratory, University of California San Francisco, San Francisco, CA, USA.; Martin PM; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Sparks TN; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, San Francisco, USA.; Koenig B; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Program in Bioethics, University of California, San Francisco, San Francisco, CA, USA.; Ackerman S; Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA, USA.; Department of Social & Behavioral Sciences, School of Nursing, University of California San Francisco, San Francisco, CA, USA.; Risch N; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Department of Epidemiology & Biostatistics, University of California San Francisco, San Francisco, CA, USA.; Kwok PY; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Norton ME; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, San Francisco, USA.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Bireley WR; Van Hove JL; Gallagher RC; Fenton LZ; Bireley, William R; Van Hove, Johan L K; Gallagher, Renata C; Fenton, Laura Z

Pediatric Radiology (PEDIATR RADIOL), Apr2012; 42(4): 455-462. (8p)

Posset, Roland; Garbade, Sven F; Boy, Nikolas; Burlina, Alberto B; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Garcia‐Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Mew, Nicholas Ah; Batshaw, Mark L; Baumgartner, Matthias R; McCandless, Shawn E; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F; Kölker, Stefan; Burgard, Peter; Berry, Susan A; Burrage, Lindsay; Coughlin, Curtis; Diaz, George A; Gallagher, Renata C; Gropman, Andrea; Harding, Cary O; Lee, Brendan; Le Mons, Cynthia; Lawrence Merritt, J; Nagamani, Sandesh CS; Schulze, Andreas; Stricker, Tamar; Tuchman, Mendel; Waisbren, Susan; WeisfeldAdams, James; Wong, Derek; Yudkoff, Marc; Arnoux, JeanBaptiste; Barić, Ivo; Bosch, Annet M; Chabrol, Brigitte; Chakrapani, Anupam; CortèsSaladefont, Elisenda; Couce, Maria L; Eyskens, Francois; Laet, Corine; Meirleir, Linda; Freisinger, Peter; Gleich, Florian; Grünewald, Stephanie; Häberle, Johannes; Hwu, WuhLiang; Jalan, Anil; Karall, Daniela; Lindner, Martin; Lund, Allan M; Martinelli, Diego; Murphy, Elaine; Mühlhausen, Chris; Olivieri, Giorgia; Ottolenghi, Chris; Rodrigues, Esmeralda; Rubert, Laura; Sarajlija, Adrijan; Schiff, Manuel; Sokal, Etienne; SykutCegielska, Jolanta; Walter, John H; Williams, Monique; Zeman, Jiri

JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Posset, R, Garbade, S F, Boy, N, Burlina, A B, Dionisi-Vici, C, Dobbelaere, D, Garcia-Cazorla, A, de Lonlay, P, Teles, E L, Vara, R, Mew, N A, Batshaw, M L, Baumgartner, M R, McCandless, S E, Seminara, J, Summar, M, Hoffmann, G F, Kölker, S, Burgard, P, Additional individual contributors of the UCDC and the E-IMD consortium & Zeman, J 2019, 'Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases', Journal of Inherited Metabolic Disease, vol. 42, no. 1, pp. 93-106. https://doi.org/10.1002/jimd.12031
Journal of Inherited Metabolic Disease, Vol. 42, no. 1, p. 93-106 (2019)
Journal of Inherited Metabolic Disease, vol 42, iss 1

Schwab ME; Fetal Treatment Center, University of California, San Francisco, CA, USA.; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, CA, USA.; Department of Surgery, Division of Pediatric Surgery, University of California, 505 Parnassus Avenue, San Francisco, CA, 94143, USA.; Brown JEH; Program in Bioethics, University of California, San Francisco, CA, USA.; Institute for Health & Aging, University of California, San Francisco, CA, USA.; Lianoglou B; Fetal Treatment Center, University of California, San Francisco, CA, USA.; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, CA, USA.; Jin C; Biostatistics Core, Department of Surgery, University of California, San Francisco, CA, USA.; Conroy PC; Department of Surgery, Division of Pediatric Surgery, University of California, 505 Parnassus Avenue, San Francisco, CA, 94143, USA.; Gallagher RC; Fetal Treatment Center, University of California, San Francisco, CA, USA.; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, CA, USA.; Department of Pediatrics, University of California, San Francisco, CA, USA.; Harmatz P; Fetal Treatment Center, University of California, San Francisco, CA, USA.; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, CA, USA.; Department of Pediatrics, University of California, San Francisco, CA, USA.; MacKenzie TC; Fetal Treatment Center, University of California, San Francisco, CA, USA. tippi.mackenzie@ucsf.edu.; Center for Maternal-Fetal Precision Medicine, University of California, San Francisco, CA, USA. tippi.mackenzie@ucsf.edu.; Department of Surgery, Division of Pediatric Surgery, University of California, 505 Parnassus Avenue, San Francisco, CA, 94143, USA. tippi.mackenzie@ucsf.edu.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. Joseph.shieh2@ucsf.edu.; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA. Joseph.shieh2@ucsf.edu.; Penon-Portmann M; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Wong KHY; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Levy-Sakin M; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Verghese M; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Slavotinek A; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Gallagher RC; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Mendelsohn BA; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Tenney J; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Beleford D; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Perry H; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Chow SK; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Sharo AG; Biophysics Graduate Group, University of California Berkeley, Berkeley, CA, USA.; Brenner SE; Department of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA.; Qi Z; Department of Laboratory Medicine, University of California San Francisco, San Francisco, CA, USA.; Yu J; Department of Laboratory Medicine, University of California San Francisco, San Francisco, CA, USA.; Klein OD; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Craniofacial Biology and Department of Orofacial Sciences, University of California San Francisco, San Francisco, CA, USA.; Martin D; Children's Hospital Oakland Research Institute, Benioff Children's Hospital Oakland, University of California San Francisco, Oakland, CA, USA.; Kwok PY; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Boffelli D; Children's Hospital Oakland Research Institute, Benioff Children's Hospital Oakland, University of California San Francisco, Oakland, CA, USA.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. Joseph.shieh2@ucsf.edu.; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA. Joseph.shieh2@ucsf.edu.; Penon-Portmann M; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Wong KHY; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Levy-Sakin M; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Verghese M; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Slavotinek A; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Gallagher RC; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Mendelsohn BA; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Tenney J; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Beleford D; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Perry H; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Chow SK; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Sharo AG; Biophysics Graduate Group, University of California Berkeley, Berkeley, CA, USA.; Brenner SE; Department of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA.; Qi Z; Department of Laboratory Medicine, University of California San Francisco, San Francisco, CA, USA.; Yu J; Department of Laboratory Medicine, University of California San Francisco, San Francisco, CA, USA.; Klein OD; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.; Craniofacial Biology and Department of Orofacial Sciences, University of California San Francisco, San Francisco, CA, USA.; Martin D; Children's Hospital Oakland Research Institute, Benioff Children's Hospital Oakland, University of California San Francisco, Oakland, CA, USA.; Kwok PY; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Boffelli D; Children's Hospital Oakland Research Institute, Benioff Children's Hospital Oakland, University of California San Francisco, Oakland, CA, USA.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Wais T; Department of Neurology, University of Arizona, Tucson, AZ, USA.; Ibarra KP; Department of Neurology and the Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.; Sudarshana DM; Department of Neurology and the Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.; Eswarappa M; Division of Nephrology, Department of Medicine, University of California, San Francisco, CA, USA.; Park M; Division of Nephrology, Department of Medicine, University of California, San Francisco, CA, USA.; Gallagher RC; Department of Pediatrics, University of California, San Francisco, CA, USA.; Tsui B; Department of Radiology, University of California, San Francisco, CA, USA.; Teixeira S; Department of Radiology, University of California, San Francisco, CA, USA.; Josephson SA; Department of Neurology and the Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.; Richie M; Department of Neurology and the Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101558199 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1941-8744 (Print) Linking ISSN: 19418744 NLM ISO Abbreviation: Neurohospitalist Subsets: PubMed not MEDLINE

Gallagher, Renata C; Pollard, Laura; Scott, Anna I; Huguenin, Suzette; Goodman, Stephen; Sun, Qin; the ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(7):683-691

Gelfand, Amy A; Gallagher, Renata C

Headache The Journal of Head and Face Pain, vol 56, iss 1

Abu-El-Haija, Aya; Mendelsohn, Bryce A; Duncan, Jacque L; Moore, Anthony T; Glenn, Orit A; Weisiger, Kara; Gallagher, Renata C

JIMD Reports ISBN: 9783662586167

Koleske ML; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA 94143.; McInnes G; Biomedical Informatics Training Program, Stanford University, Stanford, CA 94305.; Empirico Inc., San Diego, CA 92122.; Brown JEH; Program in Bioethics, University of California, San Francisco, CA 94143.; Institute for Health & Aging, University of California, San Francisco, CA 94143.; Thomas N; Computer Science Division, University of California, Berkeley, CA 94720.; Hutchinson K; Department of Pharmacological Sciences, Icahn School of Medicine at Mt. Sinai, New York, NY 10029.; Chin MY; Small Molecule Discovery Center, Department of Pharmaceutical Chemistry, University of California, San Francisco, CA 94143.; Koehl A; Department of Statistics, University of California, Berkeley, CA 94720.; Arkin MR; Small Molecule Discovery Center, Department of Pharmaceutical Chemistry, University of California, San Francisco, CA 94143.; Schlessinger A; Department of Pharmacological Sciences, Icahn School of Medicine at Mt. Sinai, New York, NY 10029.; Gallagher RC; Institute for Human Genetics, University of California, San Francisco, CA 94143.; Department of Pediatrics, University of California, San Francisco, CA 94143.; Song YS; Computer Science Division, University of California, Berkeley, CA 94720.; Department of Statistics, University of California, Berkeley, CA 94720.; Altman RB; Department of Bioengineering, Stanford University, Stanford, CA 94305.; Department of Genetics, Stanford University, Stanford, CA 94305.; Giacomini KM; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA 94143.

Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

Buerger, Corinna; Garbade, Sven F; Dietrich Alber, Fabienne; Waisbren, Susan E; McCarter, Robert; Kölker, Stefan; Burgard, Peter; Ah Mew, Nicholas; Batshaw, Mark L; Baumgartner, Matthias R; Berry, Susan A; Coughlin, Curtis; Cederbaum, Stephen; Diaz, George A; Feigenbaum, Annette; Gallagher, Renata C; Harding, Cary O; Hoffmann, Georg; Kerr, Douglas S; Lee, Brendan; Le Mons, Cynthia; Lichter‐Konecki, Uta; McCandless, Shawn E; Lawrence Merritt, J; Nagamani, Sandesh C S; Schulze, Andreas; Seashore, Margretta R; Stricker, Tamar; Summar, Marshall L; Tuchman, Mendel; et al

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Nat Commun
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Digital.CSIC. Repositorio Institucional del CSIC
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Consejo Superior de Investigaciones Científicas (CSIC)
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Nature Communications, 9