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Showing results (801-810 of 826) with videos related to

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European Journal of Human Genetics : EJHG|January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotypeMeena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.
Child Development|February 13, 2023
Language and reading impairments are associated with increased prevalence of non-right-handednessFilippo Abbondanza, Philip S Dale, Carol A Wang, et al.
JACC. Basic to Translational Science|January 16, 2026
Activating PRKG1 Variant Enhances Smooth Muscle Cell Deformability To Cause AortopathyMarie E Jost, Moyra Schweizer, Philipp Henning, et al.
American Journal of Human Genetics|March 26, 2019
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental DisorderEduardo Calpena, Alexia Hervieu, Teresa Kaserer, et al.
American Journal of Human Genetics|June 9, 2009
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsPaweł Stankiewicz, Partha Sen, Samarth S Bhatt, et al.
The American Journal of Tropical Medicine and Hygiene|July 31, 2025
Using Model-Based Geostatistics to Refine Population-Based Estimates of Trachoma Prevalence: Update from a Technical ConsultationAnna Harte, Misaki Sasanami, Clara R Burgert-Brucker, et al.
Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
Lancet (London, England)|February 5, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyJenny Lord, Dominic J McMullan, Ruth Y Eberhardt, et al.
American Journal of Human Genetics|January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.
Pageof 83

Showing results (801-810 of 826) with videos related to

Sort By:
Pageof 83
European Journal of Human Genetics : EJHG|January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotypeMeena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.
Child Development|February 13, 2023
Language and reading impairments are associated with increased prevalence of non-right-handednessFilippo Abbondanza, Philip S Dale, Carol A Wang, et al.
JACC. Basic to Translational Science|January 16, 2026
Activating PRKG1 Variant Enhances Smooth Muscle Cell Deformability To Cause AortopathyMarie E Jost, Moyra Schweizer, Philipp Henning, et al.
American Journal of Human Genetics|March 26, 2019
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental DisorderEduardo Calpena, Alexia Hervieu, Teresa Kaserer, et al.
American Journal of Human Genetics|June 9, 2009
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsPaweł Stankiewicz, Partha Sen, Samarth S Bhatt, et al.
The American Journal of Tropical Medicine and Hygiene|July 31, 2025
Using Model-Based Geostatistics to Refine Population-Based Estimates of Trachoma Prevalence: Update from a Technical ConsultationAnna Harte, Misaki Sasanami, Clara R Burgert-Brucker, et al.
Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
Lancet (London, England)|February 5, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyJenny Lord, Dominic J McMullan, Ruth Y Eberhardt, et al.
American Journal of Human Genetics|January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.
Pageof 83