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American Journal of Human Genetics
|
December 27, 2016
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Frederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, et al.
Biorxiv : the Preprint Server for Biology
|
June 25, 2020
Relationship between Anti-Spike Protein Antibody Titers and SARS-CoV-2 <i>In Vitro</i> Virus Neutralization in Convalescent Plasma
Eric Salazar, Suresh V Kuchipudi, Paul A Christensen, et al.
American Journal of Human Genetics
|
April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
Sanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
Brain : a Journal of Neurology
|
July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
Marcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 12, 2023
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial
Elizabeth Roof, Cheri L Deal, Shawn E McCandless, et al.
American Journal of Human Genetics
|
July 8, 2017
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Cara M Skraban, Constance F Wells, Preetha Markose, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation
|
January 10, 2013
Salvage second hematopoietic cell transplantation in myeloma
Laura C Michaelis, Ayman Saad, Xiaobo Zhong, et al.
Epilepsia
|
January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutations
Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
European Journal of Human Genetics : EJHG
|
August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
David A Koolen, Rolph Pfundt, Katrin Linda, et al.
American Journal of Human Genetics
|
January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
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of 82
Search research articles
Search
Showing results (791-800 of 813) with videos related to
Sort By:
Page
of 82
American Journal of Human Genetics
|
December 27, 2016
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Frederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, et al.
Biorxiv : the Preprint Server for Biology
|
June 25, 2020
Relationship between Anti-Spike Protein Antibody Titers and SARS-CoV-2 <i>In Vitro</i> Virus Neutralization in Convalescent Plasma
Eric Salazar, Suresh V Kuchipudi, Paul A Christensen, et al.
American Journal of Human Genetics
|
April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
Sanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
Brain : a Journal of Neurology
|
July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
Marcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 12, 2023
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial
Elizabeth Roof, Cheri L Deal, Shawn E McCandless, et al.
American Journal of Human Genetics
|
July 8, 2017
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Cara M Skraban, Constance F Wells, Preetha Markose, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation
|
January 10, 2013
Salvage second hematopoietic cell transplantation in myeloma
Laura C Michaelis, Ayman Saad, Xiaobo Zhong, et al.
Epilepsia
|
January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutations
Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
European Journal of Human Genetics : EJHG
|
August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
David A Koolen, Rolph Pfundt, Katrin Linda, et al.
American Journal of Human Genetics
|
January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Page
of 82