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Charles Shaw-Smith

Showing results (31-40 of 47) with videos related to

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Nature Genetics|August 15, 2006
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disabilityCharles Shaw-Smith, Alan M Pittman, Lionel Willatt, et al.
Nature Genetics|November 12, 2013
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesisMichael N Weedon, Ines Cebola, Ann-Marie Patch, et al.
Genes & Development|June 4, 2008
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5Dorota Szumska, Guido Pieles, Rachid Essalmani, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
American Journal of Human Genetics|January 2, 2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisLucie Gueneau, Richard J Fish, Hanan E Shamseldin, et al.
American Journal of Human Genetics|June 9, 2009
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsPaweł Stankiewicz, Partha Sen, Samarth S Bhatt, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignJussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSusan Walker, David J Bunyan, Huw B Thomas, et al.
Kidney International|August 5, 2020
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypesMartina Živná, Kendrah Kidd, Mohamad Zaidan, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Nature Genetics|August 15, 2006
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disabilityCharles Shaw-Smith, Alan M Pittman, Lionel Willatt, et al.
Nature Genetics|November 12, 2013
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesisMichael N Weedon, Ines Cebola, Ann-Marie Patch, et al.
Genes & Development|June 4, 2008
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5Dorota Szumska, Guido Pieles, Rachid Essalmani, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
American Journal of Human Genetics|January 2, 2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisLucie Gueneau, Richard J Fish, Hanan E Shamseldin, et al.
American Journal of Human Genetics|June 9, 2009
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsPaweł Stankiewicz, Partha Sen, Samarth S Bhatt, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignJussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSusan Walker, David J Bunyan, Huw B Thomas, et al.
Kidney International|August 5, 2020
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypesMartina Živná, Kendrah Kidd, Mohamad Zaidan, et al.
Pageof 5