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David R Fitzpatrick

Showing results (101-110 of 153) with videos related to

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Plos Genetics|March 12, 2019
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathyMark T Handley, Kaalak Reddy, Jimi Wills, et al.
Human Molecular Genetics|June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHJoe Rainger, Hemant Bengani, Leigh Campbell, et al.
Nature Communications|April 25, 2015
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosomeMagali Naville, Minaka Ishibashi, Marco Ferg, et al.
Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.
American Journal of Human Genetics|May 14, 2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesLaura Southgate, Rajiv D Machado, Katie M Snape, et al.
Journal of Medical Genetics|March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
Plos One|August 13, 2021
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disabilityHemant Bengani, Detelina Grozeva, Lambert Moyon, et al.
Lancet (London, England)|April 2, 2018
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control studyRoope Männikkö, Leonie Wong, David J Tester, et al.
Nature Genetics|October 7, 2008
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lipFedik Rahimov, Mary L Marazita, Axel Visel, et al.
Pageof 16

Showing results (101-110 of 153) with videos related to

Sort By:
Pageof 16
Plos Genetics|March 12, 2019
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathyMark T Handley, Kaalak Reddy, Jimi Wills, et al.
Human Molecular Genetics|June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHJoe Rainger, Hemant Bengani, Leigh Campbell, et al.
Nature Communications|April 25, 2015
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosomeMagali Naville, Minaka Ishibashi, Marco Ferg, et al.
Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.
American Journal of Human Genetics|May 14, 2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesLaura Southgate, Rajiv D Machado, Katie M Snape, et al.
Journal of Medical Genetics|March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
Plos One|August 13, 2021
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disabilityHemant Bengani, Detelina Grozeva, Lambert Moyon, et al.
Lancet (London, England)|April 2, 2018
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control studyRoope Männikkö, Leonie Wong, David J Tester, et al.
Nature Genetics|October 7, 2008
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lipFedik Rahimov, Mary L Marazita, Axel Visel, et al.
Pageof 16