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De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Smits, Daphne J; Schot, Rachel; Popescu, Cristiana A; Dias, Kerith-Rae; Ades, Lesley; Briere, Lauren C; Sweetser, David A; Kushima, Itaru; Aleksic, Branko; Khan, Suliman; Karageorgou, Vasiliki; Ordonez, Natalia; Sleutels, Frank J G T; van der Kaay, Daniëlle C M; Van Mol, Christine; Van Esch, Hilde; Bertoli-Avella, Aida M; Roscioli, Tony; Mancini, Grazia M S.
Afiliação
  • Smits DJ; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands. d.smits@erasmusmc.nl.
  • Schot R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands.
  • Popescu CA; Discovery Unit, Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands.
  • Dias KR; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands.
  • Ades L; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.
  • Briere LC; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Sweetser DA; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
  • Kushima I; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Aleksic B; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Khan S; Medical Genomics Center, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Karageorgou V; Department of Psychiatry, Graduate School of Medicine, Nagoya University, Nagoya, Japan.
  • Ordonez N; Department of Psychiatry, Graduate School of Medicine, Nagoya University, Nagoya, Japan.
  • Sleutels FJGT; CENTOGENE GmbH, 18055, Rostock, Germany.
  • van der Kaay DCM; CENTOGENE GmbH, 18055, Rostock, Germany.
  • Van Mol C; CENTOGENE GmbH, 18055, Rostock, Germany.
  • Van Esch H; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands.
  • Bertoli-Avella AM; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Roscioli T; Department of Pediatrics, GZ Antwerp, Antwerp, Belgium.
  • Mancini GMS; Center for Human Genetics, University Hospitals Leuven, 3000, Leuven, Belgium.
Hum Genet ; 142(7): 949-964, 2023 Jul.
Article em En | MEDLINE | ID: mdl-37198333
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda