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Emma L Wakeling

Showing results (21-30 of 33) with videos related to

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European Journal of Human Genetics : EJHG|January 28, 2010
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted lociClaire Louise Susan Turner, Deborah M Mackay, Jonathan L A Callaway, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.
Journal of Medical Genetics|March 26, 2018
Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringMatthias Begemann, Faisal I Rezwan, Jasmin Beygo, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
Nature Reviews. Endocrinology|September 3, 2016
Diagnosis and management of Silver-Russell syndrome: first international consensus statementEmma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, et al.
Nature Genetics|June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseGillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
Nature Genetics|September 25, 2012
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureGillian I Rice, Paul R Kasher, Gabriella M A Forte, et al.
Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.
Nature Genetics|February 1, 2017
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsEmma M Jenkinson, Mathieu P Rodero, Paul R Kasher, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
European Journal of Human Genetics : EJHG|January 28, 2010
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted lociClaire Louise Susan Turner, Deborah M Mackay, Jonathan L A Callaway, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.
Journal of Medical Genetics|March 26, 2018
Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringMatthias Begemann, Faisal I Rezwan, Jasmin Beygo, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
Nature Reviews. Endocrinology|September 3, 2016
Diagnosis and management of Silver-Russell syndrome: first international consensus statementEmma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, et al.
Nature Genetics|June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseGillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
Nature Genetics|September 25, 2012
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureGillian I Rice, Paul R Kasher, Gabriella M A Forte, et al.
Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.
Nature Genetics|February 1, 2017
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsEmma M Jenkinson, Mathieu P Rodero, Paul R Kasher, et al.
Pageof 4