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Showing results (121-130 of 157) with videos related to

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Applied Health Economics and Health Policy|December 31, 2024
Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?Koen Degeling, Toni Tagimacruz, Karen V MacDonald, et al.
Cellular and Molecular Gastroenterology and Hepatology|February 5, 2019
Modulation of Gut Microbiota Composition by Serotonin Signaling Influences Intestinal Immune Response and Susceptibility to ColitisYun Han Kwon, Huaqing Wang, Emmanuel Denou, et al.
American Journal of Human Genetics|December 3, 2014
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiencyRebecca Buchert, Hasan Tawamie, Christopher Smith, et al.
American Journal of Human Genetics|November 27, 2015
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in HumansHanan Shamseldin, Anas M Alazami, Melanie Manning, et al.
Chronic Diseases and Injuries in Canada|March 15, 2012
Correlates of age at diagnosis of autism spectrum disorders in six Canadian regionsH Coo, H Ouellette-Kuntz, M Lam, et al.
Human Mutation|October 4, 2012
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosisDanielle C Lynch, David A Dyment, Lijia Huang, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Clinical genetics and the Hutterite population: a review of Mendelian disordersKym M Boycott, Jillian S Parboosingh, Bernie N Chodirker, et al.
Human Mutation|July 30, 2015
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomaliesCatrina M Loucks, Jillian S Parboosingh, Ranad Shaheen, et al.
American Journal of Medical Genetics. Part A|July 3, 2003
Bowen-Conradi syndrome: a clinical and genetic studyR B Lowry, A M Innes, F P Bernier, et al.
American Journal of Medical Genetics. Part A|July 3, 2007
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndromeKym M Boycott, Jillian S Parboosingh, James N Scott, et al.
Pageof 16

Showing results (121-130 of 157) with videos related to

Sort By:
Pageof 16
Applied Health Economics and Health Policy|December 31, 2024
Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?Koen Degeling, Toni Tagimacruz, Karen V MacDonald, et al.
Cellular and Molecular Gastroenterology and Hepatology|February 5, 2019
Modulation of Gut Microbiota Composition by Serotonin Signaling Influences Intestinal Immune Response and Susceptibility to ColitisYun Han Kwon, Huaqing Wang, Emmanuel Denou, et al.
American Journal of Human Genetics|December 3, 2014
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiencyRebecca Buchert, Hasan Tawamie, Christopher Smith, et al.
American Journal of Human Genetics|November 27, 2015
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in HumansHanan Shamseldin, Anas M Alazami, Melanie Manning, et al.
Chronic Diseases and Injuries in Canada|March 15, 2012
Correlates of age at diagnosis of autism spectrum disorders in six Canadian regionsH Coo, H Ouellette-Kuntz, M Lam, et al.
Human Mutation|October 4, 2012
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosisDanielle C Lynch, David A Dyment, Lijia Huang, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Clinical genetics and the Hutterite population: a review of Mendelian disordersKym M Boycott, Jillian S Parboosingh, Bernie N Chodirker, et al.
Human Mutation|July 30, 2015
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomaliesCatrina M Loucks, Jillian S Parboosingh, Ranad Shaheen, et al.
American Journal of Medical Genetics. Part A|July 3, 2003
Bowen-Conradi syndrome: a clinical and genetic studyR B Lowry, A M Innes, F P Bernier, et al.
American Journal of Medical Genetics. Part A|July 3, 2007
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndromeKym M Boycott, Jillian S Parboosingh, James N Scott, et al.
Pageof 16