Hypoplastic left heart syndrome: an autosomal recessive disorder

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

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

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

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

Proteome-wide QTL mapping enables gene-protein-phenotype metabolic network construction in a genetically diverse MASLD mouse model.

bioRxiv : the preprint server for biology·2026

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a.

bioRxiv : the preprint server for biology·2026

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

Genomics, proteomics & bioinformatics·2026

Genome-wide linkage and association mapping identified a novel candidate gene, TaGLK-A1, underlying fructan content in wheat grain.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026

Related Experiment Videos

Hypoplastic left heart syndrome: an autosomal recessive disorder

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.

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.

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.

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

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

Proteome-wide QTL mapping enables gene-protein-phenotype metabolic network construction in a genetically diverse MASLD mouse model.

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a.

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

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Hypoplastic left heart syndrome: an autosomal recessive disorder

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