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David H Ledbetter

Showing results (51-60 of 125) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2022
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system populationJuliann M Savatt, Hermela Shimelis, Andres Moreno-De-Luca, et al.
Journal of Medical Genetics|October 26, 2010
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilityAndres Moreno-De-Luca, Sandra L Helmers, Hui Mao, et al.
Human Mutation|April 18, 2012
The introduction of arrays in prenatal diagnosis: a special challengeAnnalisa Vetro, Katelijne Bouman, Ros Hastings, et al.
Human Mutation|March 7, 2013
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium MeetingErin Rooney Riggs, Karen E Wain, Darlene Riethmaier, et al.
European Journal of Human Genetics : EJHG|June 26, 2003
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32Melissa B Ramocki, James Dowling, Inessa Grinberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2016
The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine researchDavid J Carey, Samantha N Fetterolf, F Daniel Davis, et al.
Biological Psychiatry|October 18, 2024
Advancing Mental Health Research Through Strategic Integration of Transdiagnostic Dimensions and GenomicsAlysa E Doyle, Carrie E Bearden, Raquel E Gur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variantsBrenda Finucane, Matthew T Oetjens, Alicia Johns, et al.
Medrxiv : the Preprint Server for Health Sciences|February 27, 2026
Shared and distinct phenotypic profiles among neurodevelopmental disorder genesHermela Shimelis, Matthew T Oetjens, Bobbi McGivern, et al.
JAMA Psychiatry|July 23, 2020
Identification of Neuropsychiatric Copy Number Variants in a Health Care System PopulationChrista Lese Martin, Karen E Wain, Matthew T Oetjens, et al.
Pageof 13

Showing results (51-60 of 125) with videos related to

Sort By:
Pageof 13
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2022
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system populationJuliann M Savatt, Hermela Shimelis, Andres Moreno-De-Luca, et al.
Journal of Medical Genetics|October 26, 2010
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilityAndres Moreno-De-Luca, Sandra L Helmers, Hui Mao, et al.
Human Mutation|April 18, 2012
The introduction of arrays in prenatal diagnosis: a special challengeAnnalisa Vetro, Katelijne Bouman, Ros Hastings, et al.
Human Mutation|March 7, 2013
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium MeetingErin Rooney Riggs, Karen E Wain, Darlene Riethmaier, et al.
European Journal of Human Genetics : EJHG|June 26, 2003
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32Melissa B Ramocki, James Dowling, Inessa Grinberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2016
The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine researchDavid J Carey, Samantha N Fetterolf, F Daniel Davis, et al.
Biological Psychiatry|October 18, 2024
Advancing Mental Health Research Through Strategic Integration of Transdiagnostic Dimensions and GenomicsAlysa E Doyle, Carrie E Bearden, Raquel E Gur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variantsBrenda Finucane, Matthew T Oetjens, Alicia Johns, et al.
Medrxiv : the Preprint Server for Health Sciences|February 27, 2026
Shared and distinct phenotypic profiles among neurodevelopmental disorder genesHermela Shimelis, Matthew T Oetjens, Bobbi McGivern, et al.
JAMA Psychiatry|July 23, 2020
Identification of Neuropsychiatric Copy Number Variants in a Health Care System PopulationChrista Lese Martin, Karen E Wain, Matthew T Oetjens, et al.
Pageof 13