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American Journal of Medical Genetics. Part A
|
December 10, 2022
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, et al.
American Journal of Medical Genetics. Part A
|
January 18, 2019
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum
Ebba Alkhunaizi, Shirley Shuster, Patrick Shannon, et al.
American Journal of Medical Genetics. Part A
|
February 24, 2023
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy
Sarah C Harris, Karen Chong, David Chitayat, et al.
American Journal of Human Genetics
|
July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies
Gabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.
The Journal of Experimental Medicine
|
December 7, 2005
Tyrosine phosphatase MEG2 modulates murine development and platelet and lymphocyte activation through secretory vesicle function
Yingchun Wang, Eric Vachon, Jinyi Zhang, et al.
Developmental Biology
|
September 24, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models
Andrés Hernández-García, Bum Jun Kim, David Chitayat, et al.
Cancer Research
|
August 4, 2006
High-grade glioma formation results from postnatal pten loss or mutant epidermal growth factor receptor expression in a transgenic mouse glioma model
Qingxia Wei, Laura Clarke, Danielle K Scheidenhelm, et al.
Cell Reports
|
May 25, 2022
Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment
Sofia Melliou, Kevin T Sangster, Jennifer Kao, et al.
Clinical Genetics
|
September 5, 2020
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency
Maian Roifman, Kirsten M Niles, Lauren MacNeil, et al.
American Journal of Human Genetics
|
March 5, 2017
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
Lise Barbé, Stella Lanni, Arturo López-Castel, et al.
Page
of 10
Search research articles
Search
Showing results (81-90 of 100) with videos related to
Sort By:
Page
of 10
American Journal of Medical Genetics. Part A
|
December 10, 2022
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, et al.
American Journal of Medical Genetics. Part A
|
January 18, 2019
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum
Ebba Alkhunaizi, Shirley Shuster, Patrick Shannon, et al.
American Journal of Medical Genetics. Part A
|
February 24, 2023
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy
Sarah C Harris, Karen Chong, David Chitayat, et al.
American Journal of Human Genetics
|
July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies
Gabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.
The Journal of Experimental Medicine
|
December 7, 2005
Tyrosine phosphatase MEG2 modulates murine development and platelet and lymphocyte activation through secretory vesicle function
Yingchun Wang, Eric Vachon, Jinyi Zhang, et al.
Developmental Biology
|
September 24, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models
Andrés Hernández-García, Bum Jun Kim, David Chitayat, et al.
Cancer Research
|
August 4, 2006
High-grade glioma formation results from postnatal pten loss or mutant epidermal growth factor receptor expression in a transgenic mouse glioma model
Qingxia Wei, Laura Clarke, Danielle K Scheidenhelm, et al.
Cell Reports
|
May 25, 2022
Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment
Sofia Melliou, Kevin T Sangster, Jennifer Kao, et al.
Clinical Genetics
|
September 5, 2020
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency
Maian Roifman, Kirsten M Niles, Lauren MacNeil, et al.
American Journal of Human Genetics
|
March 5, 2017
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
Lise Barbé, Stella Lanni, Arturo López-Castel, et al.
Page
of 10