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Showing results (41-50 of 53) with videos related to

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Nature Genetics|January 13, 1998
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadismL C Layman, D P Cohen, M Jin, et al.
The Journal of Clinical Endocrinology and Metabolism|December 22, 1999
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delayJ C Achermann, W X Gu, T J Kotlar, et al.
Molecular Genetics and Metabolism|September 20, 2015
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United StatesMarcus J Miller, Lindsay C Burrage, James B Gibson, et al.
Physiological Genomics|February 10, 2012
Human gene copy number spectra analysis in congenital heart malformationsAoy Tomita-Mitchell, Donna K Mahnke, Craig A Struble, et al.
American Journal of Human Genetics|October 7, 2008
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndromeHyung-Goo Kim, Ingo Kurth, Fei Lan, et al.
Fertility and Sterility|February 9, 2011
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndromeNing Xu, Hyung-Goo Kim, Balasubramanian Bhagavath, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2010
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseElizabeth A Worthey, Alan N Mayer, Grant D Syverson, et al.
American Journal of Human Genetics|October 5, 2010
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeHyung-Goo Kim, Jang-Won Ahn, Ingo Kurth, et al.
Science Translational Medicine|July 19, 2013
Genomics in clinical practice: lessons from the front linesHoward J Jacob, Kelly Abrams, David P Bick, et al.
Nature Biotechnology|July 9, 2015
Good laboratory practice for clinical next-generation sequencing informatics pipelinesAmy S Gargis, Lisa Kalman, David P Bick, et al.
Pageof 6

Showing results (41-50 of 53) with videos related to

Sort By:
Pageof 6
Nature Genetics|January 13, 1998
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadismL C Layman, D P Cohen, M Jin, et al.
The Journal of Clinical Endocrinology and Metabolism|December 22, 1999
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delayJ C Achermann, W X Gu, T J Kotlar, et al.
Molecular Genetics and Metabolism|September 20, 2015
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United StatesMarcus J Miller, Lindsay C Burrage, James B Gibson, et al.
Physiological Genomics|February 10, 2012
Human gene copy number spectra analysis in congenital heart malformationsAoy Tomita-Mitchell, Donna K Mahnke, Craig A Struble, et al.
American Journal of Human Genetics|October 7, 2008
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndromeHyung-Goo Kim, Ingo Kurth, Fei Lan, et al.
Fertility and Sterility|February 9, 2011
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndromeNing Xu, Hyung-Goo Kim, Balasubramanian Bhagavath, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2010
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseElizabeth A Worthey, Alan N Mayer, Grant D Syverson, et al.
American Journal of Human Genetics|October 5, 2010
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeHyung-Goo Kim, Jang-Won Ahn, Ingo Kurth, et al.
Science Translational Medicine|July 19, 2013
Genomics in clinical practice: lessons from the front linesHoward J Jacob, Kelly Abrams, David P Bick, et al.
Nature Biotechnology|July 9, 2015
Good laboratory practice for clinical next-generation sequencing informatics pipelinesAmy S Gargis, Lisa Kalman, David P Bick, et al.
Pageof 6