Pre-symptomatic detection and genetic counselling in myotonic dystrophy

Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.

Clinical genetics·2017

Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease.

Journal of genetic counseling·2015

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).

Muscle & nerve. Supplement·2013

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.

Muscle & nerve. Supplement·2013

A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

Journal of neurology, neurosurgery, and psychiatry·2006

Population based study of late onset cerebellar ataxia in south east Wales.

Journal of neurology, neurosurgery, and psychiatry·2004

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical genetics·2026

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

Clinical genetics·2026

The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

Clinical genetics·2026

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

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Scientific reports·2026

Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Journal of genetics and genomics = Yi chuan xue bao·2026

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Clinica chimica acta; international journal of clinical chemistry·2026

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

Brain & development·2026

High-Resolution Physical Mapping and Chromosomal Transmission in Sugarcane Progeny.

The Journal of heredity·2026

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Related Experiment Videos

Pre-symptomatic detection and genetic counselling in myotonic dystrophy

Related Concept Videos

Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.

Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease.

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.

A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

Population based study of late onset cerebellar ataxia in south east Wales.

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

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.

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

High-Resolution Physical Mapping and Chromosomal Transmission in Sugarcane Progeny.

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Related Experiment Videos

Pre-symptomatic detection and genetic counselling in myotonic dystrophy

Related Concept Videos

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