NADH dehydrogenase in cystic fibrosis

Issues in implementing prenatal screening for cystic fibrosis: results of a working conference.

Genetics in medicine : official journal of the American College of Medical Genetics·2001

Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis.

Neurology·1999

Attitudes of general practitioners to screening for cystic fibrosis.

Journal of medical screening·1998

The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies.

Clinical genetics·1998

P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.

Journal of medical genetics·1998

Marfan Database (third edition): new mutations and new routines for the software.

Nucleic acids research·1998

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

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical genetics·2026

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

European journal of human genetics : EJHG·2026

Genetic Etiology and Neurodevelopmental Outcomes in Children With Craniosynostosis: A 15-Year Single-Center Retrospective Study.

The Journal of craniofacial surgery·2026

Population-Level Nucleotide Diversity and Genetic Differentiation at SOD1 Across Global Human Populations.

Annals of human genetics·2026

Gerstmann-Straussler-Scheinker Disease With F198S Mutation Diagnosis on Repeat Genetic Testing: A Case Report.

Cureus·2026

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.

Frontiers in neurology·2026

Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing.

HLA·2026

Related Experiment Videos

NADH dehydrogenase in cystic fibrosis

Related Concept Videos

Issues in implementing prenatal screening for cystic fibrosis: results of a working conference.

Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis.

Attitudes of general practitioners to screening for cystic fibrosis.

The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies.

P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.

Marfan Database (third edition): new mutations and new routines for the software.

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.

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

Genetic Etiology and Neurodevelopmental Outcomes in Children With Craniosynostosis: A 15-Year Single-Center Retrospective Study.

Population-Level Nucleotide Diversity and Genetic Differentiation at SOD1 Across Global Human Populations.

Gerstmann-Straussler-Scheinker Disease With F198S Mutation Diagnosis on Repeat Genetic Testing: A Case Report.

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.

Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing.

Related Experiment Videos

NADH dehydrogenase in cystic fibrosis

Related Concept Videos

Related Articles