Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Irfan Lalani

Mutation in the Novel Nuclear-Encoded Mitochondrial Protein CHCHD10 in a Family With Autosomal Dominant Mitochondrial Myopathy

Molecular Neuroscience

English

Related publications

A Novel De Novo Dominant Mutation inISCUassociated With Mitochondrial Myopathy

Journal of Medical Genetics

English

a Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

G3: Genes, Genomes, Genetics

Molecular Biology

English

A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

American Journal of Human Genetics

English

Two Novel Mutations in the SLC25A4 Gene in a Patient With Mitochondrial Myopathy

Internal Medicine

Molecular Biology

English

Obesity Associated With a Novel Mitochondrial tRNACys 5802A>G Mutation in a Chinese Family

Bioscience Reports

Molecular Biology

English

Loss-Of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes

Internal Medicine

English

A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

Death-Associated Protein 3 Regulates Mitochondrial-Encoded Protein Synthesis and Mitochondrial Dynamics

Journal of Biological Chemistry

Molecular Biology

English

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Spanish Family With a Ser252Phe Mutation in the CHRNA4 Gene

Archives of Neurology

English