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Carlo Marcelis

Showing results (31-40 of 55) with videos related to

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Human Mutation|June 22, 2022
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlationsGeeske M van Woerden, Richelle Senden, Charlotte de Konink, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|January 21, 2018
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with CancerIllja J Diets, Esmé Waanders, Marjolijn J Ligtenberg, et al.
Human Mutation|March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethalityDorothea Bornholdt, Frank Oeffner, Arne König, et al.
Human Molecular Genetics|May 24, 2014
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladderHeiko Reutter, Markus Draaken, Tracie Pennimpede, et al.
Human Mutation|March 1, 2020
A mutation update for the FLNC gene in myopathies and cardiomyopathiesJob A J Verdonschot, Els K Vanhoutte, Godelieve R F Claes, et al.
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
Scientific Reports|February 9, 2017
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract developmentRong Zhang, Michael Knapp, Kentaro Suzuki, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Pageof 6

Showing results (31-40 of 55) with videos related to

Sort By:
Pageof 6
Human Mutation|June 22, 2022
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlationsGeeske M van Woerden, Richelle Senden, Charlotte de Konink, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|January 21, 2018
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with CancerIllja J Diets, Esmé Waanders, Marjolijn J Ligtenberg, et al.
Human Mutation|March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethalityDorothea Bornholdt, Frank Oeffner, Arne König, et al.
Human Molecular Genetics|May 24, 2014
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladderHeiko Reutter, Markus Draaken, Tracie Pennimpede, et al.
Human Mutation|March 1, 2020
A mutation update for the FLNC gene in myopathies and cardiomyopathiesJob A J Verdonschot, Els K Vanhoutte, Godelieve R F Claes, et al.
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
Scientific Reports|February 9, 2017
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract developmentRong Zhang, Michael Knapp, Kentaro Suzuki, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Pageof 6