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  • 1-10 ل  177 نتائج ل ""MESH: Genetic Association Studies""

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Academic Journal

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A , Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability

Subjects: MESH: Humans; MESH: Mutation; Missense

  • Source: ISSN: 1059-7794.

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Academic Journal

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations

Subjects: Genetics research; Development; MESH: Humans

  • Source: ISSN: 1018-4813.

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Academic Journal

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis

Subjects: medical; genetics; genetic testing

  • Source: ISSN: 1351-5101.

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Academic Journal

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Subjects: Thousand and one kinase family; TAOK2; TAOK1

  • Source: ISSN: 1098-3600.

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Academic Journal

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form associated genes provides new insights for molecular diagnosis and clinical management.

Subjects: Arrhythmogenic cardiomyopathy; Burden tests; Molecular diagnosis

  • Source: ISSN: 1059-7794.

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Academic Journal

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Subjects: MESH: Adolescent; MESH: Adult; MESH: Obesity

  • Source: ISSN: 0340-6717.

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Academic Journal

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

Subjects: Autism; Intellectual disability; Neurodevelopment

  • Source: ISSN: 0887-8994 ; Pediatric Neurology ; https://hal.sorbonne-universite.fr/hal-04534072 ; Pediatric Neurology, 2022, 126, pp.65-73. ⟨10.1016/j.pediatrneurol.2021.10.008⟩.

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Academic Journal

Novel genes and insights in complete asthma remission: A genome‐wide association study on clinical and complete asthma remission: A genome-wide association study on clinical and complete asthma remission

Subjects: Male; 0301 basic medicine; MESH: Asthma

  • Source: Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.-2018

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Dissertation/ Thesis

HCN4 Genetic Architecture and Genotype-Phenotype Correlation in a Large French Cohort ; Le gène HCN4 : architecture moléculaire et corrélation génotype-phénotype dans une large cohorte française

Subjects: Molecular genetic; Sinus bradycardia; Atrial fibrillation

  • Source: https://dumas.ccsd.cnrs.fr/dumas-05441255 ; Médecine humaine et pathologie. 2025.

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Academic Journal

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

Subjects: tuberculosis; mycobacteria; haploinsufficiency

  • Source: ISSN: 0271-9142.

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  • 1-10 ل  177 نتائج ل ""MESH: Genetic Association Studies""