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Charles Shaw

Showing results (41-50 of 62) with videos related to

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BMC Research Notes|October 11, 2011
Strengthening organizational performance through accreditation research-a framework for twelve interrelated studies: the ACCREDIT project study protocolJeffrey Braithwaite, Johanna Westbrook, Brian Johnston, et al.
HGG Advances|February 4, 2021
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndromeEmma Wakeling, Meriel McEntagart, Michael Bruccoleri, et al.
American Journal of Human Genetics|May 27, 2005
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt, James Cox, John Barber, et al.
Diabetes|April 4, 2014
GATA4 mutations are a cause of neonatal and childhood-onset diabetesCharles Shaw-Smith, Elisa De Franco, Hana Lango Allen, et al.
Journal of Medical Genetics|February 1, 2011
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaSerena Nik-Zainal, Reiner Strick, Mekayla Storer, et al.
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.
Pageof 7

Showing results (41-50 of 62) with videos related to

Sort By:
Pageof 7
BMC Research Notes|October 11, 2011
Strengthening organizational performance through accreditation research-a framework for twelve interrelated studies: the ACCREDIT project study protocolJeffrey Braithwaite, Johanna Westbrook, Brian Johnston, et al.
HGG Advances|February 4, 2021
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndromeEmma Wakeling, Meriel McEntagart, Michael Bruccoleri, et al.
American Journal of Human Genetics|May 27, 2005
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt, James Cox, John Barber, et al.
Diabetes|April 4, 2014
GATA4 mutations are a cause of neonatal and childhood-onset diabetesCharles Shaw-Smith, Elisa De Franco, Hana Lango Allen, et al.
Journal of Medical Genetics|February 1, 2011
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaSerena Nik-Zainal, Reiner Strick, Mekayla Storer, et al.
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.
Pageof 7