The genetics of hereditary angioedema: a hypothesis

Renpenning syndrome maps to Xp11.

American journal of human genetics·1998

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.

Journal of medical genetics·1993

Leigh's disease with clinical manifestations of Cornelia de Lange syndrome.

Pediatric neurosurgery·1991

Amyotrophic lateral sclerosis in a patient with fragile X syndrome.

Neurology·1990

Autosomal recessive juvenile cataract in Hutterites.

Ophthalmic paediatrics and genetics·1987

Muscular dystrophy in Saskatchewan Hutterites.

American journal of medical genetics·1985

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Clinical genetics·2026

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Clinical genetics·2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Neurology. Genetics·2026

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Cureus·2026

Genetic profile of motor neuron disease in a multiregional Brazilian cohort: an 18-year real-world experience in 1,911 patients.

Frontiers in neurology·2026

Distinct neurogenic progenitor cell populations balance cell type production in the embryonic mouse retina.

bioRxiv : the preprint server for biology·2026

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay.

medRxiv : the preprint server for health sciences·2026

Germline NF2 variant position constrains somatic second hits and determines clinical severity in Neurofibromatosis Type 2-related schwannomatosis.

medRxiv : the preprint server for health sciences·2026

Related Experiment Videos

The genetics of hereditary angioedema: a hypothesis

Related Concept Videos

Renpenning syndrome maps to Xp11.

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.

Leigh's disease with clinical manifestations of Cornelia de Lange syndrome.

Amyotrophic lateral sclerosis in a patient with fragile X syndrome.

Autosomal recessive juvenile cataract in Hutterites.

Muscular dystrophy in Saskatchewan Hutterites.

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Genetic profile of motor neuron disease in a multiregional Brazilian cohort: an 18-year real-world experience in 1,911 patients.

Distinct neurogenic progenitor cell populations balance cell type production in the embryonic mouse retina.

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay.

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The genetics of hereditary angioedema: a hypothesis

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