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Han G Brunner

Showing results (121-130 of 318) with videos related to

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Genome Medicine|December 15, 2016
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphismsServi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, et al.
Circulation. Genomic and Precision Medicine|September 4, 2020
Implications of Genetic Testing in Dilated CardiomyopathyJob A J Verdonschot, Mark R Hazebroek, Ingrid P C Krapels, et al.
European Journal of Human Genetics : EJHG|May 17, 2023
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathySophie L V M Stroeks, Debby Hellebrekers, Godelieve R F Claes, et al.
Human Mutation|January 12, 2017
Quantification of Phenotype Information Aids the Identification of Novel Disease GenesAnneke T Vulto-van Silfhout, Christian Gilissen, Jelle J Goeman, et al.
American Journal of Human Genetics|August 16, 2006
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disordersRoos van der Donk, Sandra Jansen, Janneke H M Schuurs-Hoeijmakers, et al.
American Journal of Human Genetics|May 10, 2011
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPPLisenka E L M Vissers, Ekkehart Lausch, Sheila Unger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practiceSuzanne C E H Sallevelt, Alexander P A Stegmann, Bart de Koning, et al.
Nature Genetics|December 25, 2007
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists|November 18, 2009
WNT5A mutations in patients with autosomal dominant Robinow syndromeAnthony D Person, Soraya Beiraghi, Christine M Sieben, et al.
Pageof 32

Showing results (121-130 of 318) with videos related to

Sort By:
Pageof 32
Genome Medicine|December 15, 2016
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphismsServi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, et al.
Circulation. Genomic and Precision Medicine|September 4, 2020
Implications of Genetic Testing in Dilated CardiomyopathyJob A J Verdonschot, Mark R Hazebroek, Ingrid P C Krapels, et al.
European Journal of Human Genetics : EJHG|May 17, 2023
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathySophie L V M Stroeks, Debby Hellebrekers, Godelieve R F Claes, et al.
Human Mutation|January 12, 2017
Quantification of Phenotype Information Aids the Identification of Novel Disease GenesAnneke T Vulto-van Silfhout, Christian Gilissen, Jelle J Goeman, et al.
American Journal of Human Genetics|August 16, 2006
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disordersRoos van der Donk, Sandra Jansen, Janneke H M Schuurs-Hoeijmakers, et al.
American Journal of Human Genetics|May 10, 2011
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPPLisenka E L M Vissers, Ekkehart Lausch, Sheila Unger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practiceSuzanne C E H Sallevelt, Alexander P A Stegmann, Bart de Koning, et al.
Nature Genetics|December 25, 2007
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists|November 18, 2009
WNT5A mutations in patients with autosomal dominant Robinow syndromeAnthony D Person, Soraya Beiraghi, Christine M Sieben, et al.
Pageof 32