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Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.
Lühmann, Jonathan Lukas; Schmidt, Gunnar; Auber, Bernd; Bergmann, Anke Katharina; Brandau, Oliver; Louis, Anja; Hentze, Sabine; Eisfeld, Katrin; Schlegelberger, Brigitte; Klaes, Ruediger; Steinemann, Doris.
Afiliación
  • Lühmann JL; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
  • Schmidt G; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
  • Auber B; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
  • Bergmann AK; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
  • Brandau O; SYNLAB MVZ Humangenetik Mannheim GmbH, Mannheim, Germany.
  • Louis A; Labor für Humangenetische Diagnostik, Mannheim, Germany.
  • Hentze S; Labor für Humangenetische Diagnostik, Mannheim, Germany.
  • Eisfeld K; Labor für Humangenetische Diagnostik, Mannheim, Germany.
  • Schlegelberger B; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
  • Klaes R; SYNLAB MVZ Humangenetik Mannheim GmbH, Mannheim, Germany.
  • Steinemann D; Hannover Medical School, Department of Human Genetics, Hannover, Germany.
Am J Med Genet A ; 191(7): 1849-1857, 2023 07.
Article en En | MEDLINE | ID: mdl-37081310
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Williams Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Williams Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Alemania