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European Journal of Human Genetics : EJHG
|
May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
Jianling Ji, Hane Lee, Bob Argiropoulos, et al.
American Journal of Human Genetics
|
December 20, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
Geroscience
|
September 20, 2025
Extension of lifespan by epicatechin, halofuginone and mitoglitazone in male but not female genetically heterogeneous mice
Randy Strong, James F Nelson, Molly A Bogue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 15, 2019
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Hane Lee, Alden Y Huang, Lee-Kai Wang, et al.
Plos Medicine
|
December 21, 2006
Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain
Jeffrey C Lee, Igor Vivanco, Rameen Beroukhim, et al.
Science (New York, N.Y.)
|
March 29, 2008
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
Tom Walsh, Jon M McClellan, Shane E McCarthy, et al.
Biorxiv : the Preprint Server for Biology
|
February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Science (New York, N.Y.)
|
April 24, 2004
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
Joanna C Jen, Wai-Man Chan, Thomas M Bosley, et al.
Neurology. Genetics
|
August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Orphanet Journal of Rare Diseases
|
March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Ulrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
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of 84
Search research articles
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Showing results (801-810 of 835) with videos related to
Sort By:
Page
of 84
European Journal of Human Genetics : EJHG
|
May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
Jianling Ji, Hane Lee, Bob Argiropoulos, et al.
American Journal of Human Genetics
|
December 20, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
Geroscience
|
September 20, 2025
Extension of lifespan by epicatechin, halofuginone and mitoglitazone in male but not female genetically heterogeneous mice
Randy Strong, James F Nelson, Molly A Bogue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 15, 2019
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Hane Lee, Alden Y Huang, Lee-Kai Wang, et al.
Plos Medicine
|
December 21, 2006
Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain
Jeffrey C Lee, Igor Vivanco, Rameen Beroukhim, et al.
Science (New York, N.Y.)
|
March 29, 2008
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
Tom Walsh, Jon M McClellan, Shane E McCarthy, et al.
Biorxiv : the Preprint Server for Biology
|
February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Science (New York, N.Y.)
|
April 24, 2004
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
Joanna C Jen, Wai-Man Chan, Thomas M Bosley, et al.
Neurology. Genetics
|
August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Orphanet Journal of Rare Diseases
|
March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Ulrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
Page
of 84