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H Ledbetter

Showing results (231-240 of 388) with videos related to

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American Journal of Human Genetics|December 1, 1991
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4M R Altherr, U Bengtsson, F F Elder, et al.
JAMA Pediatrics|March 6, 2023
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysisPedro J Gonzalez-Mantilla, Yirui Hu, Scott M Myers, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 19, 2025
X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of heightAlexander S F Berry, Brenda M Finucane, Scott M Myers, et al.
Human Molecular Genetics|February 1, 1994
Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoireN Ben-Arie, D Lancet, C Taylor, et al.
Genes, Chromosomes & Cancer|July 1, 1990
Cloning and characterization of the t(15;17) translocation breakpoint region in acute promyelocytic leukemiaR S Lemons, D Eilender, R A Waldmann, et al.
Clinical Genetics|August 1, 1992
X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible maleJ C Mulley, A M Turner, A K Gedeon, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 1, 1989
Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sourcesD L Nelson, S A Ledbetter, L Corbo, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 12, 2021
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research projectMelissa A Kelly, Joseph B Leader, Karen E Wain, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, et al.
Journal of Craniofacial Genetics and Developmental Biology|April 1, 1996
Unilateral cleft lip in a boy with Angelman syndromeO Rösby, P Strömme, M Sandsmark, et al.
Pageof 39

Showing results (231-240 of 388) with videos related to

Sort By:
Pageof 39
American Journal of Human Genetics|December 1, 1991
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4M R Altherr, U Bengtsson, F F Elder, et al.
JAMA Pediatrics|March 6, 2023
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysisPedro J Gonzalez-Mantilla, Yirui Hu, Scott M Myers, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 19, 2025
X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of heightAlexander S F Berry, Brenda M Finucane, Scott M Myers, et al.
Human Molecular Genetics|February 1, 1994
Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoireN Ben-Arie, D Lancet, C Taylor, et al.
Genes, Chromosomes & Cancer|July 1, 1990
Cloning and characterization of the t(15;17) translocation breakpoint region in acute promyelocytic leukemiaR S Lemons, D Eilender, R A Waldmann, et al.
Clinical Genetics|August 1, 1992
X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible maleJ C Mulley, A M Turner, A K Gedeon, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 1, 1989
Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sourcesD L Nelson, S A Ledbetter, L Corbo, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 12, 2021
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research projectMelissa A Kelly, Joseph B Leader, Karen E Wain, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, et al.
Journal of Craniofacial Genetics and Developmental Biology|April 1, 1996
Unilateral cleft lip in a boy with Angelman syndromeO Rösby, P Strömme, M Sandsmark, et al.
Pageof 39