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David R FitzPatrick

Showing results (21-30 of 144) with videos related to

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Elife|June 26, 2014
Diagnostically relevant facial gestalt information from ordinary photosQuentin Ferry, Julia Steinberg, Caleb Webber, et al.
Human Molecular Genetics|December 10, 2002
Transcriptome analysis of human autosomal trisomyDavid R FitzPatrick, Jacqueline Ramsay, Niolette I McGill, et al.
HGG Advances|December 23, 2022
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disordersStuart Aitken, Helen V Firth, Caroline F Wright, et al.
Nature Immunology|November 5, 2003
Active recruitment of DNA methyltransferases regulates interleukin 4 in thymocytes and T cellsKaren W Makar, Mercedes Pérez-Melgosa, Maria Shnyreva, et al.
European Journal of Medical Genetics|June 28, 2015
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutationDenise Horn, Trine Prescott, Gunnar Houge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
Evaluating variants classified as pathogenic in ClinVar in the DDD StudyCaroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, et al.
Clinical Dysmorphology|September 22, 2011
An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBLJennie E Murray, Muhammed Walayat, Peter Gillett, et al.
Pediatrics|April 4, 2018
NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central ApneaJamie Campbell, David R FitzPatrick, Tara Azam, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 12, 2004
Evolutionarily conserved sequence elements that positively regulate IFN-gamma expression in T cellsMaria Shnyreva, William M Weaver, Mathieu Blanchette, et al.
Plos One|September 3, 2010
Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocationsLouise Harewood, Monica Liu, Jean Keeling, et al.
Pageof 15

Showing results (21-30 of 144) with videos related to

Sort By:
Pageof 15
Elife|June 26, 2014
Diagnostically relevant facial gestalt information from ordinary photosQuentin Ferry, Julia Steinberg, Caleb Webber, et al.
Human Molecular Genetics|December 10, 2002
Transcriptome analysis of human autosomal trisomyDavid R FitzPatrick, Jacqueline Ramsay, Niolette I McGill, et al.
HGG Advances|December 23, 2022
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disordersStuart Aitken, Helen V Firth, Caroline F Wright, et al.
Nature Immunology|November 5, 2003
Active recruitment of DNA methyltransferases regulates interleukin 4 in thymocytes and T cellsKaren W Makar, Mercedes Pérez-Melgosa, Maria Shnyreva, et al.
European Journal of Medical Genetics|June 28, 2015
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutationDenise Horn, Trine Prescott, Gunnar Houge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
Evaluating variants classified as pathogenic in ClinVar in the DDD StudyCaroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, et al.
Clinical Dysmorphology|September 22, 2011
An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBLJennie E Murray, Muhammed Walayat, Peter Gillett, et al.
Pediatrics|April 4, 2018
NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central ApneaJamie Campbell, David R FitzPatrick, Tara Azam, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 12, 2004
Evolutionarily conserved sequence elements that positively regulate IFN-gamma expression in T cellsMaria Shnyreva, William M Weaver, Mathieu Blanchette, et al.
Plos One|September 3, 2010
Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocationsLouise Harewood, Monica Liu, Jean Keeling, et al.
Pageof 15