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H Ledbetter

Showing results (291-300 of 388) with videos related to

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Molecular Psychiatry|October 10, 2012
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohortsD Moreno-De-Luca, S J Sanders, A J Willsey, et al.
Prenatal Diagnosis|May 1, 1992
First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative studyR J Desnick, J L Schuette, M S Golbus, 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.
American Journal of Human Genetics|July 1, 1997
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndromeR Carrozzo, E Rossi, S L Christian, et al.
Journal of Medical Genetics|December 1, 1996
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosisT Kubota, S Aradhya, M Macha, et al.
The EMBO Journal|May 15, 1997
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressorG Meroni, A Reymond, M Alcalay, et al.
American Journal of Medical Genetics|November 1, 1988
Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysisA O Martin, H Northrup, D H Ledbetter, 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.
Journal of Medical Genetics|October 4, 2002
"Molecular rulers" for calibrating phenotypic effects of telomere imbalanceC L Martin, D J Waggoner, A Wong, et al.
Pageof 39

Showing results (291-300 of 388) with videos related to

Sort By:
Pageof 39
Molecular Psychiatry|October 10, 2012
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohortsD Moreno-De-Luca, S J Sanders, A J Willsey, et al.
Prenatal Diagnosis|May 1, 1992
First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative studyR J Desnick, J L Schuette, M S Golbus, 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.
American Journal of Human Genetics|July 1, 1997
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndromeR Carrozzo, E Rossi, S L Christian, et al.
Journal of Medical Genetics|December 1, 1996
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosisT Kubota, S Aradhya, M Macha, et al.
The EMBO Journal|May 15, 1997
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressorG Meroni, A Reymond, M Alcalay, et al.
American Journal of Medical Genetics|November 1, 1988
Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysisA O Martin, H Northrup, D H Ledbetter, 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.
Journal of Medical Genetics|October 4, 2002
"Molecular rulers" for calibrating phenotypic effects of telomere imbalanceC L Martin, D J Waggoner, A Wong, et al.
Pageof 39