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Expert Review of Molecular Diagnostics
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July 9, 2016
Sequencing-based diagnostics for pediatric genetic diseases: progress and potential
Ahmad N Abou Tayoun, Bryan Krock, Nancy B Spinner
Seminars in Cell & Developmental Biology
|
February 7, 2012
Notch signaling in human development and disease
Andrea L Penton, Laura D Leonard, Nancy B Spinner
Gene
|
November 10, 2015
Jagged1 (JAG1): Structure, expression, and disease associations
Christopher M Grochowski, Kathleen M Loomes, Nancy B Spinner
Nature Reviews. Nephrology
|
June 12, 2013
Renal involvement and the role of Notch signalling in Alagille syndrome
Binita M Kamath, Nancy B Spinner, Norman D Rosenblum
American Journal of Medical Genetics. Part A
|
July 3, 2003
Complete androgen insensitivity syndrome due to X chromosome inversion: a clinical report
Weizhen Xu, Claudia Robert, Paul S Thornton, et al.
American Journal of Medical Genetics. Part A
|
August 23, 2005
DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother
Ralph J DeBerardinis, Livija Medne, Nancy B Spinner, et al.
Pediatrics
|
September 4, 2013
Pediatric mortality in males versus females in the United States, 1999-2008
Sheri L Balsara, Jennifer A Faerber, Nancy B Spinner, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
September 11, 2014
A Challenging Case of Focal Extrahepatic Duct Obstruction/Hypoplasia in Alagille Syndrome
Henry Lin, Bryan Zoll, Pierre Russo, et al.
European Journal of Human Genetics : EJHG
|
July 25, 2013
Clinical utility gene card for: Alagille Syndrome (ALGS)
Laura D Leonard, Grace Chao, Alastair Baker, et al.
American Journal of Medical Genetics. Part A
|
January 7, 2004
Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies
Charles P Venditti, Piper Hunt, Alan Donnenfeld, et al.
Page
of 14
Search research articles
Search
Showing results (11-20 of 140) with videos related to
Sort By:
Page
of 14
Expert Review of Molecular Diagnostics
|
July 9, 2016
Sequencing-based diagnostics for pediatric genetic diseases: progress and potential
Ahmad N Abou Tayoun, Bryan Krock, Nancy B Spinner
Seminars in Cell & Developmental Biology
|
February 7, 2012
Notch signaling in human development and disease
Andrea L Penton, Laura D Leonard, Nancy B Spinner
Gene
|
November 10, 2015
Jagged1 (JAG1): Structure, expression, and disease associations
Christopher M Grochowski, Kathleen M Loomes, Nancy B Spinner
Nature Reviews. Nephrology
|
June 12, 2013
Renal involvement and the role of Notch signalling in Alagille syndrome
Binita M Kamath, Nancy B Spinner, Norman D Rosenblum
American Journal of Medical Genetics. Part A
|
July 3, 2003
Complete androgen insensitivity syndrome due to X chromosome inversion: a clinical report
Weizhen Xu, Claudia Robert, Paul S Thornton, et al.
American Journal of Medical Genetics. Part A
|
August 23, 2005
DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother
Ralph J DeBerardinis, Livija Medne, Nancy B Spinner, et al.
Pediatrics
|
September 4, 2013
Pediatric mortality in males versus females in the United States, 1999-2008
Sheri L Balsara, Jennifer A Faerber, Nancy B Spinner, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
September 11, 2014
A Challenging Case of Focal Extrahepatic Duct Obstruction/Hypoplasia in Alagille Syndrome
Henry Lin, Bryan Zoll, Pierre Russo, et al.
European Journal of Human Genetics : EJHG
|
July 25, 2013
Clinical utility gene card for: Alagille Syndrome (ALGS)
Laura D Leonard, Grace Chao, Alastair Baker, et al.
American Journal of Medical Genetics. Part A
|
January 7, 2004
Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies
Charles P Venditti, Piper Hunt, Alan Donnenfeld, et al.
Page
of 14