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American Journal of Medical Genetics. Part A
|
August 18, 2016
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia
Michael M Weinstein, Taekyu Kang, Ralph S Lachman, et al.
Disease Models & Mechanisms
|
August 5, 2016
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3
Mary P Colasanto, Shai Eyal, Payam Mohassel, et al.
Human Molecular Genetics
|
July 29, 2016
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
Wenjuan Zhang, S Paige Taylor, Lisette Nevarez, et al.
Asian Journal of Andrology
|
May 15, 2012
A pilot study of the association between genetic polymorphisms involved in estrogen signaling and infant male genital phenotypes
Sheela Sathyanarayana, Shanna H Swan, Federico M Farin, et al.
Plos One
|
July 18, 2013
Fine-scale patterns of population stratification confound rare variant association tests
Timothy D O'Connor, Adam Kiezun, Michael Bamshad, et al.
Current Biology : CB
|
April 23, 2002
Gene flow from the Indian subcontinent to Australia: evidence from the Y chromosome
Alan J Redd, June Roberts-Thomson, Tatiana Karafet, et al.
Sleep
|
June 4, 2015
Mitochondrial DNA Copy Number in Sleep Duration Discordant Monozygotic Twins
Joanna E Wrede, Jonas Mengel-From, Dedra Buchwald, et al.
Bioinformatics (Oxford, England)
|
February 1, 2011
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders
Christian Rödelsperger, Peter Krawitz, Sebastian Bauer, et al.
Human Mutation
|
August 8, 2019
Dominant-negative SOX9 mutations in campomelic dysplasia
Fabiana Csukasi, Ivan Duran, Wenjuan Zhang, et al.
Clinical Genetics
|
June 10, 2024
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis
Burcin Morali, Valancy Miranda, John Raelson, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 53) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
August 18, 2016
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia
Michael M Weinstein, Taekyu Kang, Ralph S Lachman, et al.
Disease Models & Mechanisms
|
August 5, 2016
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3
Mary P Colasanto, Shai Eyal, Payam Mohassel, et al.
Human Molecular Genetics
|
July 29, 2016
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
Wenjuan Zhang, S Paige Taylor, Lisette Nevarez, et al.
Asian Journal of Andrology
|
May 15, 2012
A pilot study of the association between genetic polymorphisms involved in estrogen signaling and infant male genital phenotypes
Sheela Sathyanarayana, Shanna H Swan, Federico M Farin, et al.
Plos One
|
July 18, 2013
Fine-scale patterns of population stratification confound rare variant association tests
Timothy D O'Connor, Adam Kiezun, Michael Bamshad, et al.
Current Biology : CB
|
April 23, 2002
Gene flow from the Indian subcontinent to Australia: evidence from the Y chromosome
Alan J Redd, June Roberts-Thomson, Tatiana Karafet, et al.
Sleep
|
June 4, 2015
Mitochondrial DNA Copy Number in Sleep Duration Discordant Monozygotic Twins
Joanna E Wrede, Jonas Mengel-From, Dedra Buchwald, et al.
Bioinformatics (Oxford, England)
|
February 1, 2011
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders
Christian Rödelsperger, Peter Krawitz, Sebastian Bauer, et al.
Human Mutation
|
August 8, 2019
Dominant-negative SOX9 mutations in campomelic dysplasia
Fabiana Csukasi, Ivan Duran, Wenjuan Zhang, et al.
Clinical Genetics
|
June 10, 2024
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis
Burcin Morali, Valancy Miranda, John Raelson, et al.
Page
of 6