부산대학교 도서관

Parobek CM; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Zemet R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Shanahan MA; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Burnett BA; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA.; Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.; Vossaert L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.; Clark SL; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Mohila CA; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, USA.; Department of Pathology, Texas Children's Hospital, Houston, Texas, USA.; AlAwami S; King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, USA.; Kearney DL; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, USA.; Department of Pathology, Texas Children's Hospital, Houston, Texas, USA.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Joint BCM-CUHK Center of Medical Genetics, Chinese University of Hong Kong, Hong Kong SAR, China.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Almannai M; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt.; Maroofian R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.; Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.; Saadi NW; College of Medicine, University of Baghdad, Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq.; Filimban B; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Dafsari HS; Department of Pediatrics, Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Randall Centre for Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Max-Planck-Institute for Biology of Ageing, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), Cologne, Germany.; Rahman F; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan.; Maqbool S; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan.; Faqeih E; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Al Mutairi F; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Alsharhan H; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Abdelaty O; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Bin-Hasan S; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Noureldeen MM; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.; Alqattan A; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.; Hunter JV; Texas Children Hospital, Houston, Texas, USA.; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Genetics Clinics, University Hospital Sharjah, Sharjah, United Arab Emirates.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Lee VK; Department of Bioengineering, University of Pittsburgh, Pittsburgh, PA 15260, USA.; Department of Radiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA.; Ceschin R; Department of Radiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA.; Department of Biomedical Informatics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15206, USA.; Reynolds WT; Department of Radiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA.; Department of Biomedical Informatics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15206, USA.; Meyers B; Department of Radiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA.; Wallace J; Department of Radiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA.; Landsittel D; Department of Biostatistics, School of Public Health and Health Professions, State University of New York at Buffalo, Buffalo, NY 14260, USA.; Joseph HM; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15260, USA.; Badaly D; Learning and Development Center, Child Mind Institute, New York, NY 10022, USA.; Gaynor JW; Division of Cardiothoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Licht D; Perinatal Pediatrics Institute, Children's National Hospital, Washinton, DC 20010, USA.; Greene NH; Anesthesiology, Oregon Health and Science University, Portland, OR 97239, USA.; Brady KM; Department of Pediatrics and Department of Anesthesiology, Lurie Children's Hospital, Northwestern University, Chicago, IL 60611, USA.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX 77030, USA.; H. Ben Taub Department of Physical Medicine and Rehabilitation, Baylor College of Medicine, Houston, TX 77030, USA.; Chu ZD; Department of Radiology, Baylor College of Medicine, Houston, TX 77030, USA.; H. Ben Taub Department of Physical Medicine and Rehabilitation, Baylor College of Medicine, Houston, TX 77030, USA.; Wilde EA; Department of Radiology, Baylor College of Medicine, Houston, TX 77030, USA.; H. Ben Taub Department of Physical Medicine and Rehabilitation, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.; Easley RB; Department of Pediatric Anesthesiology, Baylor College of Medicine, Houston, TX 77030, USA.; Andropoulos D; Department of Pediatric Anesthesiology, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Anesthesiology, Perioperative and Pain Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Panigrahy A; Department of Bioengineering, University of Pittsburgh, Pittsburgh, PA 15260, USA.; Department of Radiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15260, USA.; Department of Biomedical Informatics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15206, USA.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Xia ZJ; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Sumya FT; Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Baig SM; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.; Pakistan Science Foundation (PSF), Islamabad, Pakistan.; Abdullah U; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.; Ali Z; Centre for Biotechnology and Microbiology, University of Swat, Swat, Pakistan.; Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Withers MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Lupashin VV; Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Kho J; Department of Molecular and Human Genetics and.; Polak U; Department of Molecular and Human Genetics and.; Jiang MM; Department of Molecular and Human Genetics and.; Odom JD; Department of Molecular and Human Genetics and.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Ali SM; Department of Molecular and Human Genetics and.; Burrage LC; Department of Molecular and Human Genetics and.; Texas Children's Hospital, Houston, Texas, USA.; Nagamani SC; Department of Molecular and Human Genetics and.; Texas Children's Hospital, Houston, Texas, USA.; Pautler RG; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.; Thompson HP; Department of Neurology, University of Texas Health Science Center, Houston, Texas, USA.; Urayama A; Department of Neurology, University of Texas Health Science Center, Houston, Texas, USA.; Jin Z; Department of Molecular and Human Genetics and.; Lee B; Department of Molecular and Human Genetics and.; Texas Children's Hospital, Houston, Texas, USA.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Guo T; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Wang C; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Garrett L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.; Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Kurolap A; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Henig NZ; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Boys Town National Research Hospital, Boys Town, NE, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Becker L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Rathkolb B; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians University Munich, Munich, Germany; German Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.; Gerlini R; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Seisenberger C; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Marschall S; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX, USA; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX, USA.; Gerard A; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Heidlebaugh A; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.; Challman T; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.; Spillmann RC; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; Lalani S; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Liu L; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.; Iglesias A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Guzman E; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Baugh E; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Boddaert N; Paediatric Radiology Department, AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, 75015 Paris, France.; Rondeau S; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Ormieres C; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Barcia G; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Tan QKG; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA.; Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Sheikh K; Department of Neurology, UT Health Science Center at Houston, McGovern Medical School, Houston, TX, USA.; Biliciler S; Department of Neurology, UT Health Science Center at Houston, McGovern Medical School, Houston, TX, USA.; Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Melani F; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Shashi V; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Yaron Y; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Steele M; Lifetime Neurodevelopmental Care, San Francisco, CA, USA.; Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Østergaard E; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Nazaryan-Petersen L; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Millan F; GeneDx, Gaithersburg, MD, USA.; Santiago-Sim T; GeneDx, Gaithersburg, MD, USA.; Thevenon J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire Dijon, Equipe Genetics of Developmental Anomalies-INSERM UMR 1231, Dijon, France.; Bruel AL; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Thauvin-Robinet C; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Popp D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gawlinski P; Institute of Mother and Child, Kasprzaka 17a, 02-211 Warsaw, Poland.; Wiszniewski W; Oregon Health & Sciences University, 3181 SW Sam Jackson Park Road L103, Portland, OR, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gailus-Durner V; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy.; Fuchs H; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Hrabě de Angelis M; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Alte Akademie 8, 85354 Freising, Germany.; Hölter SM; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Technische Universität München, Freising-Weihenstephan, Germany.; Cheung HH; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Gu S; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China; Key Laboratory for Regenerative Medicine, Ministry of Education, School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China; Kunming Institute of Zoology Chinese Academy of Sciences, the Chinese University of Hong Kong Joint Laboratory of Bioresources and Molecular Research of Common Diseases, Hong Kong SAR, China. Electronic address: shengu@cuhk.edu.hk.; Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. Electronic address: jlupski@bcm.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Daignault C; Section of Hematology/Oncology, Department of Pediatrics, Texas Children's Hospital Cancer and Hematology Center, Baylor College of Medicine, Houston, Texas, USA.; Dimachkieh A; Department of Pediatric Otolaryngology - Head and Neck Surgery, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.; Hunter JV; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.; Demmler-Harrison G; Section of Infectious Diseases, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.; Salem B; Section of Hematology/Oncology, Bone Marrow Transplant Program, Department of Pediatrics, Texas Children's Hospital Cancer and Hematology Center, Baylor College of Medicine, Houston, Texas, USA.; Schafer ES; Section of Hematology/Oncology, Department of Pediatrics, Texas Children's Hospital Cancer and Hematology Center, Baylor College of Medicine, Houston, Texas, USA.; Stevens A; Section of Hematology/Oncology, Department of Pediatrics, Texas Children's Hospital Cancer and Hematology Center, Baylor College of Medicine, Houston, Texas, USA.

Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA.; Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.; Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA.; Li H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Sedlazeck FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Pacific Northwest Research Institute, Seattle, Washington, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Adapa P; Chung TW; Popek EJ; Hunter JV; Adapa, Pavani; Chung, Tae-Woong; Popek, Edwina J; Hunter, Jill V

Pediatric Radiology (PEDIATR RADIOL), Dec2009; 39(12): 1365-1368. (4p)