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Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.
Hofrichter, Michaela A H; Doll, Julia; Habibi, Haleh; Enayati, Samaneh; Vahidi Mehrjardi, Mohammad Yahya; Müller, Tobias; Dittrich, Marcus; Haaf, Thomas; Vona, Barbara.
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  • Hofrichter MAH; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.
  • Doll J; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.
  • Habibi H; Genetic Counselling Center, Hamadan University of Medical Science, Daneshgah-e-Bu Ali Sina, Hamedan, Iran.
  • Enayati S; Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
  • Vahidi Mehrjardi MY; Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Müller T; Institute of Bioinformatics, Julius Maximilians University, Würzburg, Germany.
  • Dittrich M; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany; Institute of Bioinformatics, Julius Maximilians University, Würzburg, Germany.
  • Haaf T; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.
  • Vona B; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany; Department of Otorhinolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen, Germany. Electronic address: barbara.vona@uni-tuebingen.de.
Eur J Med Genet ; 62(10): 103724, 2019 Oct.
Article en En | MEDLINE | ID: mdl-31315069
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Eliminación de Secuencia / Colágeno Tipo IX / Variaciones en el Número de Copia de ADN / Pérdida Auditiva Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Eliminación de Secuencia / Colágeno Tipo IX / Variaciones en el Número de Copia de ADN / Pérdida Auditiva Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Alemania