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American Journal of Human Genetics
|
February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
Jessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.
Blood Advances
|
April 9, 2025
Critical Bleeding in Adults and Children with Immune Thrombocytopenia: A Multicenter Cohort Study
Emily Sirotich, Saifur R Chowdhury, Dimpy Modi, et al.
Journal of Medicinal Chemistry
|
April 30, 2026
Optimization and Characterization of SHIP1 Ligands for Cellular Target Engagement and Activity in Alzheimer's Disease Models
Cynthia D Jesudason, Claudia Rangel-Barajas, Colin J Beach, et al.
European Journal of Haematology
|
November 18, 2024
Treatment of Critical Bleeds in Patients With Immune Thrombocytopenia: A Systematic Review
Saifur R Chowdhury, Emily Sirotich, Gordon Guyatt, et al.
American Journal of Human Genetics
|
April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
Genome Medicine
|
September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variants
Tomasz Gambin, Bo Yuan, Weimin Bi, 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.
American Journal of Medical Genetics. Part A
|
February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome
Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.
Science Translational Medicine
|
May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Frédéric Ebstein, Sébastien Küry, Victoria Most, et al.
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of 75
Search research articles
Search
Showing results (741-750 of 749) with videos related to
Sort By:
Page
of 75
You have reached the last page of results.
This site can display upto 749 results.
American Journal of Human Genetics
|
February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
Jessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.
Blood Advances
|
April 9, 2025
Critical Bleeding in Adults and Children with Immune Thrombocytopenia: A Multicenter Cohort Study
Emily Sirotich, Saifur R Chowdhury, Dimpy Modi, et al.
Journal of Medicinal Chemistry
|
April 30, 2026
Optimization and Characterization of SHIP1 Ligands for Cellular Target Engagement and Activity in Alzheimer's Disease Models
Cynthia D Jesudason, Claudia Rangel-Barajas, Colin J Beach, et al.
European Journal of Haematology
|
November 18, 2024
Treatment of Critical Bleeds in Patients With Immune Thrombocytopenia: A Systematic Review
Saifur R Chowdhury, Emily Sirotich, Gordon Guyatt, et al.
American Journal of Human Genetics
|
April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
Genome Medicine
|
September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variants
Tomasz Gambin, Bo Yuan, Weimin Bi, 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.
American Journal of Medical Genetics. Part A
|
February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome
Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.
Science Translational Medicine
|
May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Frédéric Ebstein, Sébastien Küry, Victoria Most, et al.
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of 75