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Showing results (31-40 of 103) with videos related to

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The Journal of Clinical Investigation|April 1, 2022
Lessons learned: next-generation sequencing applied to undiagnosed genetic diseasesBryce A Schuler, Erica T Nelson, Mary Koziura, et al.
Clinical Genetics|January 26, 2010
Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertensionR Hamid, L K Hedges, E Austin, et al.
European Journal of Endocrinology|December 24, 1997
Allelic variations in the human growth hormone-1 gene promoter of growth hormone-deficient patients and normal controlsJ K Wagner, A Eblé, J D Cogan, et al.
Human Molecular Genetics|June 1, 1997
A novel mechanism of aberrant pre-mRNA splicing in humansJ D Cogan, M A Prince, S Lekhakula, et al.
Science (New York, N.Y.)|September 10, 2016
Deterministic generation of a cluster state of entangled photonsI Schwartz, D Cogan, E R Schmidgall, et al.
American Journal of Human Genetics|September 16, 2021
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases NetworkSouhrid Mukherjee, Joy D Cogan, John H Newman, et al.
Human Mutation|February 12, 2009
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 alleleRizwan Hamid, Joy D Cogan, Lora K Hedges, et al.
American Journal of Respiratory and Critical Care Medicine|October 19, 2017
Genome-Wide Association Study of 58 Individuals with Fibrosing Mediastinitis Reveals Possible Underlying Genetic SusceptibilityBradley W Richmond, Yan Guo, Chang Yu, et al.
Orphanet Journal of Rare Diseases|November 15, 2024
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseasesYutaka Furuta, Rory J Tinker, Rizwan Hamid, et al.
American Journal of Respiratory and Critical Care Medicine|October 13, 2007
Proteomics of transformed lymphocytes from a family with familial pulmonary arterial hypertensionBarbara O Meyrick, David B Friedman, D Dean Billheimer, et al.
Pageof 11

Showing results (31-40 of 103) with videos related to

Sort By:
Pageof 11
The Journal of Clinical Investigation|April 1, 2022
Lessons learned: next-generation sequencing applied to undiagnosed genetic diseasesBryce A Schuler, Erica T Nelson, Mary Koziura, et al.
Clinical Genetics|January 26, 2010
Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertensionR Hamid, L K Hedges, E Austin, et al.
European Journal of Endocrinology|December 24, 1997
Allelic variations in the human growth hormone-1 gene promoter of growth hormone-deficient patients and normal controlsJ K Wagner, A Eblé, J D Cogan, et al.
Human Molecular Genetics|June 1, 1997
A novel mechanism of aberrant pre-mRNA splicing in humansJ D Cogan, M A Prince, S Lekhakula, et al.
Science (New York, N.Y.)|September 10, 2016
Deterministic generation of a cluster state of entangled photonsI Schwartz, D Cogan, E R Schmidgall, et al.
American Journal of Human Genetics|September 16, 2021
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases NetworkSouhrid Mukherjee, Joy D Cogan, John H Newman, et al.
Human Mutation|February 12, 2009
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 alleleRizwan Hamid, Joy D Cogan, Lora K Hedges, et al.
American Journal of Respiratory and Critical Care Medicine|October 19, 2017
Genome-Wide Association Study of 58 Individuals with Fibrosing Mediastinitis Reveals Possible Underlying Genetic SusceptibilityBradley W Richmond, Yan Guo, Chang Yu, et al.
Orphanet Journal of Rare Diseases|November 15, 2024
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseasesYutaka Furuta, Rory J Tinker, Rizwan Hamid, et al.
American Journal of Respiratory and Critical Care Medicine|October 13, 2007
Proteomics of transformed lymphocytes from a family with familial pulmonary arterial hypertensionBarbara O Meyrick, David B Friedman, D Dean Billheimer, et al.
Pageof 11