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Brain : a Journal of Neurology
|
June 30, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion
Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
September 17, 2023
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease
Omer Shlomovitz, Danit Atias-Varon, Dina Yagel, et al.
American Journal of Medical Genetics. Part A
|
May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
Caroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Brain : a Journal of Neurology
|
July 24, 2019
Cohesin complex-associated holoprosencephaly
Paul Kruszka, Seth I Berger, Valentina Casa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Nature Communications
|
June 9, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Katie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
American Journal of Human Genetics
|
March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
American Journal of Human Genetics
|
January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
Karim Karimi, Yael Lichtenstein, Jack Reilly, et al.
American Journal of Human Genetics
|
July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
Maria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
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Search research articles
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Showing results (41-50 of 59) with videos related to
Sort By:
Page
of 6
Brain : a Journal of Neurology
|
June 30, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion
Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
September 17, 2023
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease
Omer Shlomovitz, Danit Atias-Varon, Dina Yagel, et al.
American Journal of Medical Genetics. Part A
|
May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
Caroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Brain : a Journal of Neurology
|
July 24, 2019
Cohesin complex-associated holoprosencephaly
Paul Kruszka, Seth I Berger, Valentina Casa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Nature Communications
|
June 9, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Katie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
American Journal of Human Genetics
|
March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
American Journal of Human Genetics
|
January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
Karim Karimi, Yael Lichtenstein, Jack Reilly, et al.
American Journal of Human Genetics
|
July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
Maria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
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of 6