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Expanding the KIF4A-associated phenotype.
Kalantari, Silvia; Carlston, Colleen; Alsaleh, Norah; Abdel-Salam, Ghada M H; Alkuraya, Fowzan; Kato, Mitsuhiro; Matsumoto, Naomichi; Miyatake, Satoko; Yamamoto, Tatsuya; Fares-Taie, Lucas; Rozet, Jean-Michel; Chassaing, Nicolas; Vincent-Delorme, Catherine; Kang-Bellin, Anjeung; McWalter, Kirsty; Bupp, Caleb; Palen, Emily; Wagner, Monisa D; Niceta, Marcello; Cesario, Claudia; Milone, Roberta; Kaplan, Julie; Wadman, Erin; Dobyns, William B; Filges, Isabel.
Afiliação
  • Kalantari S; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
  • Carlston C; Department of Clinical Research, University Hospital Basel, Basel, Switzerland.
  • Alsaleh N; Division of Medical Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Abdel-Salam GMH; Division of Medical Genetics and Metabolic Medicine, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Alkuraya F; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Kato M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Matsumoto N; Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
  • Yamamoto T; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
  • Fares-Taie L; Department of Pediatrics, Hirosaki University School of Medicine, Hirosaki, Japan.
  • Rozet JM; INSERM UMR1163, Imagine - Institute of Genetic Diseases, Paris Descartes University, Paris, France.
  • Chassaing N; INSERM UMR1163, Imagine - Institute of Genetic Diseases, Paris Descartes University, Paris, France.
  • Vincent-Delorme C; Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France.
  • Kang-Bellin A; Department of Clinical Genetics, CHU Lille, Lille, France.
  • McWalter K; Centre for Prenatal Ultrasound, Basel, Switzerland.
  • Bupp C; GeneDx, 207 Perry Parkway, Gaithersburg, Maryland, USA.
  • Palen E; Spectrum Health, Grand Rapids, Michigan, USA.
  • Wagner MD; Autism & Developmental Medicine Institute, Danville, Pennsylvania, USA.
  • Niceta M; Autism & Developmental Medicine Institute, Danville, Pennsylvania, USA.
  • Cesario C; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Milone R; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Kaplan J; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
  • Wadman E; Division of Genetics, Department of Pediatrics, Nemours/Alfred I. DuPont Hospital for Children, Wilmington, Delaware, USA.
  • Dobyns WB; Division of Genetics, Department of Pediatrics, Nemours/Alfred I. DuPont Hospital for Children, Wilmington, Delaware, USA.
  • Filges I; Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
Am J Med Genet A ; 185(12): 3728-3739, 2021 12.
Article em En | MEDLINE | ID: mdl-34346154
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Urogenitais / Refluxo Vesicoureteral / Anormalidades Múltiplas / Encéfalo / Cinesinas Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Urogenitais / Refluxo Vesicoureteral / Anormalidades Múltiplas / Encéfalo / Cinesinas Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suíça