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The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken, Gijs A C; Müller, Dominik; Mignot, Cyril; Keren, Boris; Lévy, Jonathan; Tabet, Anne-Claude; Germanaud, David; Tejada, María-Isabel; Kroes, Hester Y; Nievelstein, Rutger A J; Brimble, Elise; Ruzhnikov, Maria; Claverie-Martin, Felix; Szczepanska, Maria; Cuk, Martin; Latta, Femke; Konrad, Martin; Martínez-Cruz, Luis A; Bindels, René J M; Hoenderop, Joost G J; Schlingmann, Karl-Peter; de Baaij, Jeroen H F.
Afiliação
  • Franken GAC; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Müller D; Department of Pediatric Gastroenterology, Nephrology and Metabolism, Charité Universitäts Medizin, Berlin, Germany.
  • Mignot C; Département de Genetique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Assistance Publique Hôpitaux de Paris, Paris, France.
  • Keren B; Département de Génétique, Groupe Hospitalier, Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, Paris, France.
  • Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
  • Tabet AC; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
  • Germanaud D; Pediatric Neurology Department, Centre de Référence Déficiences Intellectuelles de Causes Rares, Service de Neurologie Pédiatrique, Hôpital Robert-Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Tejada MI; Osakidetza Basque Health Service, Cruces University Hospital, Genetics Service and Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.
  • Kroes HY; Spanish Consortium for Research on Rare Diseases (CIBERER), Valencia, Spain.
  • Nievelstein RAJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Brimble E; Department of Pediatric Radiology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Ruzhnikov M; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California, USA.
  • Claverie-Martin F; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California, USA.
  • Szczepanska M; Unidad de Investigación, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
  • Cuk M; Department of Pediatrics, Medical University of Silesia, Katowice, Poland.
  • Latta F; Department of Pediatrics, Children's Hospital Zagreb, Zagreb, Croatia.
  • Konrad M; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Martínez-Cruz LA; Department of General Pediatrics, University Children's Hospital, Münster, Germany.
  • Bindels RJM; Structural Biology Unit, Center for Cooperative Research in Biosciences (CIC bioGUNE), Technology Park of Bizkaia, Derio, Spain.
  • Hoenderop JGJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Schlingmann KP; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Baaij JHF; Department of General Pediatrics, University Children's Hospital, Münster, Germany.
Hum Mutat ; 42(4): 473-486, 2021 04.
Article em En | MEDLINE | ID: mdl-33600043
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Cátions / Deficiência Intelectual Idioma: En Ano de publicação: 2021 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: Proteínas de Transporte de Cátions / Deficiência Intelectual Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda