부산대학교 도서관

G. García Amor; A. Matilla Dueñas; M. Lozano Sánchez; E. Gasch Navalón; D. Vilas Rolán

Neurology Perspectives, Vol 4, Iss , Pp 153-154 (2024)

Arquitetura Revista. 9

Publisher: Springer Nature ISSN: 1473-4222

Brandsma R.; Verschuuren-Bemelmans C. C.; Amrom D.; Barisic N.; Baxter P.; Bertini E.; Blumkin L.; Brankovic-Sreckovic V.; Brouwer O. F.; Burk K.; Catsman-Berrevoets C. E.; Craiu D.; de Coo I. F. M.; Gburek J.; Kennedy C.; de Koning T. J.; Kremer H. P. H.; Kumar R.; Macaya A.; Micalizzi A.; Mirabelli-Badenier M.; Nemeth A.; Nuovo S.; Poll-The B.; Lerman-Sagie T.; Steinlin M.; Synofzik M.; Tijssen M. A. J.; Vasco G.; Willemsen M. A. A. P.; Zanni G.; Valente E. M.; Boltshauser E.; Sival D. A.

European journal of paediatric neurology 23(5), 692-706 (2019). doi:10.1016/j.ejpn.2019.08.004
European Journal of Paediatric Neurology, 23, 54, pp. 692-706

Bielas SL; Silhavy JL; Brancati F; Kisseleva MV; Al-Gazali L; Sztriha L; Bayoumi RA; Zaki MS; Abdel-Aleem A; Rosti RO; Kayserili H; Swistun D; Scott LC; Bertini E; Boltshauser E; Fazzi E; Travaglini L; Field SJ; Gayral S; Jacoby M; Schurmans S; Dallapiccola B; Majerus PW; Valente EM; Gleeson JG

Nature Genetics, vol 41, iss 9

Bader I; Einheit für Klinische Genetik, Universitätsklinik für Kinder- und Jugendheilkunde, Paracelsus Medizinische Universität, Müllner Hauptstraße 48, A-5020, Salzburg, Austria. i.bader@salk.at.; McTiernan N; Department of Biomedicine, University of Bergen, Bergen, Norway.; Darbakk C; Department of Biomedicine, University of Bergen, Bergen, Norway.; Boltshauser E; Children's University Hospital, Zürich, Switzerland.; Ree R; Department of Biomedicine, University of Bergen, Bergen, Norway.; Ebner S; Einheit für Klinische Genetik, Universitätsklinik für Kinder- und Jugendheilkunde, Paracelsus Medizinische Universität, Müllner Hauptstraße 48, A-5020, Salzburg, Austria.; Mayr JA; Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Arnesen T; Department of Biomedicine, University of Bergen, Bergen, Norway.; Department of Biological Sciences, University of Bergen, Bergen, Norway.; Department of Surgery, Haukeland University Hospital, Bergen, Norway.

Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

Arquiteturarevista. jul/dez2013, Vol. 9 Issue 2, p73-81. 9p.

Gafner M; Department of Pediatrics B, Schneider Children's Medical Center of Israel, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Haddad L; Foetal Neurology Clinic, Wolfson Medical Center, Holon, Israel.; Gupta R; Sunehri Devi Hospital, Sonipat, India.; Indraprastha Apollo Hospital, New Delhi, India.; Leibovitz Z; Obstetrics & Gynecology Ultrasound Unit, Bnai Zion Medical Center, Haifa, Israel.; Rappaport Faculty of Medicine, Technion- Israel Institute, Haifa, Israel.; Zilberman Ron I; Department of Obstetrics & Gynecology, Rabin Medical Center, Israel.; Ben-Sira L; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Radiology Unit, Sourasky Medical Center, Tel Aviv, Israel.; Libzon S; Pediatric Radiology Unit, Sourasky Medical Center, Tel Aviv, Israel.; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.; Gindes L; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Foetal Neurology Clinic, Wolfson Medical Center, Holon, Israel.; Obstetrics & Gynecology Ultrasound Unit, Wolfson Medical Center, Haifa, Israel.; Boltshauser E; Pediatric Neurology (Emeritus), Children's University, Zürich, Switzerland.; Lerman-Sagie T; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Foetal Neurology Clinic, Wolfson Medical Center, Holon, Israel.; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

Wohlgemuth CA; Department of Neuropediatrics, University Children's Hospital Zürich, Zürich, Switzerland.; Gennari AG; Department of Neuropediatrics, University Children's Hospital Zurich, Zurich, Switzerland.; MR-Research Centre, University Children's Hospital of Zurich, Zurich, Switzerland.; Lo Biundo SP; Department of Neuropediatrics, University Children's Hospital Zürich, Zürich, Switzerland.; Boltshauser E; Department of Neuropediatrics, University Children's Hospital, Zurich, Switzerland.; Prader S; Department of Immunology, University Children's Hospital Zurich, Zürich, Switzerland.; Steindl K; University of Zurich, Zürich, Switzerland.; Institute of Medical Genetics, University Hospital of Zurich, Zürich, Switzerland.; Rüegger A; Department of Neuropediatrics, University Children's Hospital Zurich, Zürich, Switzerland.; Ramantani G; Department of Neuropediatrics, University Children's Hospital Zurich, Zürich, Switzerland.; University of Zurich, Zürich, Switzerland.

Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE

Merkevicius K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Institute of Biosciences, Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania.; Smirnov D; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Ganetzky R; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Center for Computational Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Feichtinger RG; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Jiang H; Department of Pediatrics, Weifang Maternal and Children Health Hospital, 261000 Weifang, China.; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Ebihara T; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, 113-842, Japan.; Department of Metabolism, Chiba Children's Hospital, Chiba City, 266-0007, Japan.; Ferrera G; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Ardissone A; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Rokicki D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Wesol-Kucharska D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Schröder S; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Department of Medicine, Clinic III, Hematology, Oncology, Palliative Medicine, University of Rostock, 18051 Rostock, Germany.; Pomeranian Medical University, 70-204 Szczecin, Poland.; Bertoli-Avella A; CENTOGENE GmbH, 18055 Rostock, Germany.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Freisinger P; Klinikum am Steinenberg, Children's Hospital Reutlingen, 72764 Reutlingen, Germany.; Janssen MCH; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Wagner M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alhaddad B; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Lifera Omics, 11452 Riyadh, Saudi Arabia.; AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Baghdasaryan A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Barca D; Pediatric Neurology Department, Carol Davila University of Medicine and Pharmacy, Alexandru Obregia Clinical Hospital, 050474 Bucharest, Romania.; Barić I; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Bellusci M; Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, CIBERER, 28041 Madrid, Spain.; Bevot A; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, 72016 Tübingen, Germany.; Boltshauser E; Department of Neuropediatrics, University Children's Hospital Zurich, 8008 Zurich, Switzerland.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Bouchereau J; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Bruno C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Burnyte B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Calhoun A; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, 52242 Iowa, USA.; Casas K; Sanford Health, Medical Genetics, Fargo, 58103 North Dakota, USA.; Coker M; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; De Lonlay P; Reference Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, Institut Imagine, INEM, AP-HP, University Paris Descartes, 75015 Paris, France.; Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Falk MJ; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Ferreira AC; Reference Center of Inherited Metabolic Disease, Unidade Local de Saúde de São José, Lisbon Clinical Academic Center, 1169-045 Lisboa, Portugal.; Ferreira CR; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Ficicioglu C; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.; Fatma Gokçay G; Division of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, 34390 Istanbul, Turkey.; Häberle J; Division of Metabolism & Children's Research Center, University Children's Hospital, 8032 Zürich, Switzerland.; Heath O; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Hellenschmidt A; Department for Pediatrics, Klinikum Karlsruhe, 76133 Karlsruhe, Germany.; Hoefele J; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, 81675 Munich, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians University, 80336 Munich, Germany.; Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic.; Huemer M; Department of Paediatrics, LKH Bregenz, 6900 Bregenz, Austria.; Division of Metabolism, University Children's Hospital, 8008 Zürich, Switzerland.; Janeiro P; Reference Center for Metabolic Diseases, Pediatric Department, Hospital de Santa Maria, ULSSM, 1169-045 Lisboa, Portugal.; Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal.; Karaa A; Department of Paediatrics, Division of Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Seher Kasapkara Ç; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, 06800 Ankara, Türkiye.; Kern I; Department of Pediatrics, Geneva University Hospital, 1205 Geneva, Switzerland.; Klepper J; Department of Neuropediatrics, Children's Hospital Aschaffenburg-Alzenau, 63739 Aschaffenburg, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; Koch J; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Krumina Z; Department of Biology and Microbiology, Riga Stradiņš University, Riga, LV-1007, Latvia.; Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Lebigot E; Biochemistry Department, Bicêtre Hospital, APHP Paris Saclay, 94270 Le Kremlin Bicêtre, France.; Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Maier EM; Section of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, University of Munich, 80337 Munich, Germany.; Martinelli D; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Mendelsohn B; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1085 Budapest, Hungary.; Mundy H; Department of Inherited Metabolic Disease, Evelina London Children's Hospital, London SE1 7EH, UK.; Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, 1200 Brussels, Belgium.; Oliveira A; Medicine Department, Santa Maria University Hospital, 1649-028 Lisbon, Portugal.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Panicucci C; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Parikh S; Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio 44195, USA.; Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Pichard S; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Ramadža DP; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Repetto GM; Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, 7550000 Santiago, Chile.; Rivera I; iMed.ULisboa - Instituto de Investigação do Medicamento, Faculdade de Farmácia, Universidade de Lisboa, 1649-003 Lisbon, Portugal.; Rodenburg RJ; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Rossi A; Department of Translational Medicine, Section of Paediatrics, University of Naples 'Federico II', 80131 Naples, Italy.; Schiff M; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Seidemann K; Department of Pediatric Cardiology and Intensive Care Medicine, Hannover Medical School, Carl-Neuberg-Street 1, 30625, Hannover, Germany.; Smith WE; MaineHealth Maine Medical Center Portland, Barbara Bush Children's Hospital, Division of Genetics, Portland, ME 04102, USA.; Soares S; Neuropediatrics Unit, of the Pediatrics Department, of the Pedro Hispano Hospital, ULSM, 4464 Matosinhos, Portugal.; Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Steinbrucker K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, 01-211 Warsaw, Poland.; Tal G; Metabolic Clinic and Pediatric Department B, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Tsiakas K; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kalkan Ucar S; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; van Konijnenburg EH; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.; Woidy M; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Yaplito-Lee J; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Yildiz Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey.; Zenker M; Institute of Human Genetics, University Hospital, 39120 Magdeburg, Germany.; Zsidegh P; Pediatric Centre, Bókay Street Department, Semmelweis University, 1083 Budapest, Hungary.; Westphal D; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Sperl W; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Brown GK; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, OX3 7LE, UK.; Prokisch H; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Munich, 80337 Munich, Germany.; Mayr JA; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Wortmann SB; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Arrigoni, F.; Romaniello, R.; Peruzzo, D.; Poretti, A.; Bassi, M. T.; Pierpaoli, C.; Valente, E. M.; Di Nuovo, S.; Boltshauser, E.; Huisman, T. A. G. M.; Triulzi, F.; Borgatti, R.

European Radiology. 29:770-782

Gafner M; From the Department of Pediatrics B (M.G.), Schneider Children's Medical Center of Israel, Petach Tikva, Israel michalgurevitch@gmail.com.; Sackler Faculty ofMedicine (M.G., K.K.H., L.G., D.L., T.L.-S.), Tel Aviv University, Tel Aviv, Israel.; Garel C; Department of Radiology (C.G.).; Reference Center for Cerebellar Malformations and Congenital Diseases (C.G., S.V., D.H., L.B., D.R.), Hôpital d'Enfants Armand-Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.; Leibovitz Z; Obstetrics and Gynecology Ultrasound Unit (Z.L.), Bnai-Zion Medical Center, Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Valence S; Reference Center for Cerebellar Malformations and Congenital Diseases (C.G., S.V., D.H., L.B., D.R.), Hôpital d'Enfants Armand-Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.; Service de Neuropédiatrie (S.V., L.B., D.R.), Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.; Krajden Haratz K; Sackler Faculty ofMedicine (M.G., K.K.H., L.G., D.L., T.L.-S.), Tel Aviv University, Tel Aviv, Israel.; Division of Ultrasound in ObGyn (K.K.H.), Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Oegema R; Departments of Genetics (R.O.).; Mancini GMS; Department of Clinical Genetics (G.M.S.M.), Erasmus MC University Medical Center, GD Rotterdam, the Netherlands.; Heron D; Reference Center for Cerebellar Malformations and Congenital Diseases (C.G., S.V., D.H., L.B., D.R.), Hôpital d'Enfants Armand-Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.; Service de Génétique Clinique (D.H.), Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Bueltmann E; Institute of Diagnostic und Interventional Neuroradiology (E. Bueltmann), Hannover Medical School, Hannover, Germany.; Burglen L; Reference Center for Cerebellar Malformations and Congenital Diseases (C.G., S.V., D.H., L.B., D.R.), Hôpital d'Enfants Armand-Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.; Service de Neuropédiatrie (S.V., L.B., D.R.), Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.; Rodriguez D; Reference Center for Cerebellar Malformations and Congenital Diseases (C.G., S.V., D.H., L.B., D.R.), Hôpital d'Enfants Armand-Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.; Service de Neuropédiatrie (S.V., L.B., D.R.), Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.; Huisman TAGM; Edward B. Singleton Department of Radiology (T.A.G.M.H.), Texas Children's Hospital and Baylor College of Medicine, Houston, Texas.; Lequin MH; Radiology (M.H.L.), University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Arad A; Department of Pathology (A.A.), Bnai-Zion Medical Center, Haifa, Israel.; Kidron D; Department of Pathology (D.K.), Meir Medical Center, Kfar Saba, Israel.; Muqary M; Department of Obstetrics and Gynecology (M.M.), Poriya Medical Center, Tiberias, Galilee, Israel.; Gindes L; Sackler Faculty ofMedicine (M.G., K.K.H., L.G., D.L., T.L.-S.), Tel Aviv University, Tel Aviv, Israel.; Department of Obstetrics and Gynecology (L.G.).; Lev D; Sackler Faculty ofMedicine (M.G., K.K.H., L.G., D.L., T.L.-S.), Tel Aviv University, Tel Aviv, Israel.; The Rina Mor Institute of Medical Genetics (D.L.).; Fetal Neurology Clinic (D.L., T.L.-S.).; Boltshauser E; Pediatric Neurology (Emeritus) (E. Boltshauser), Children's University Hospital, Zürich, Switzerland.; Lerman-Sagie T; Sackler Faculty ofMedicine (M.G., K.K.H., L.G., D.L., T.L.-S.), Tel Aviv University, Tel Aviv, Israel.; Fetal Neurology Clinic (D.L., T.L.-S.).; Magen Center for Rare Diseases (T.L.-S.).; Pediatric Neurology Unit (T.L.-S.), Wolfson Medical Center, Holon, Israel.

Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE

Romaniello R.; Arrigoni F.; Panzeri E.; Poretti A.; Micalizzi A.; Citterio A.; Bedeschi M. F.; Berardinelli A.; Cusmai R.; D'Arrigo S.; Ferraris A.; Hackenberg A.; Kuechler A.; Mancardi M.; Nuovo S.; Oehl-Jaschkowitz B.; Rossi A.; Signorini S.; Tuttelmann F.; Wahl D.; Hehr U.; Boltshauser E.; Bassi M. T.; Valente E. M.; Borgatti R.

European Radiology. 27:5080-5092

Schröder S; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.; Yigit G; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Li Y; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Altmüller J; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Facility Genomics, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Büttel HM; MVZ Genetikum GmbH, Stuttgart, Germany.; Fiedler B; Division of Neuropediatrics, Department of General Pediatrics, University Hospital Münster, Münster, Germany.; Kretzschmar C; Sozialpädiatrisches Zentrum, Städtisches Klinikum Dresden, Dresden, Germany.; Nürnberg P; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Seeger J; Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany.; Serpieri V; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Wollnik B; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; Boltshauser E; Department of Pediatric Neurology (Emeritus), University Children's Hospital, Zurich, Switzerland.; Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany. kbrock@med.uni-goettingen.de.

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

Powell L; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Olinger E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Wedderburn S; Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK.; Ramakumaran VS; Clinical Genetics, Oxford University Hospital, Oxford, UK.; Kini U; Clinical Genetics, Oxford University Hospital, Oxford, UK.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.; Ramsden SC; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.; Rice SJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Barroso-Gil M; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Wilson I; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Cowley L; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Johnson S; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Harris E; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Montgomery T; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Bertoli M; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Boltshauser E; Paediatric Neurology (Emeritus), Children's University Hospital, Zürich, Switzerland.; Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Barth, P.G.; Aronica, E.; Fox, S.; Fluiter, K.; Weterman, M.A.J.; Poretti, A.; Miller, D.C.; Boltshauser, E.; Harding, B.; Santi, M.; Baas, F.

Neuropathology and Applied Neurobiology. 43:358-365

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