Novel mutation in two brothers with Hermansky Pudlak syndrome type 3

Albinism Associated with Hemorrhagic Diathesis and Unusual Pigmented Reticular Cells in the Bone Marrow: Report of Two Cases with Histochemical Studies

F Heřmanský, Pavel Pudlák · Blood · 1959 · 546 citations · Full text

A Mutation in the Thyroid Hormone Receptor Alpha Gene

New England Journal of Medicine · 2011 · 366 citations · Full text

Developmental Biology, Genetics, Thyroid Disease +10

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Eloísa S. Moreira, Tim Wiltshire, Georgine Faulkner et al. · Nature Genetics · 2000 · 333 citations

Skeletal Muscle, Genetic Disorder, Genetics +3

Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

W. A. Gahl, Mark Brantly, Muriel I. Kaiser‐Kupfer et al. · New England Journal of Medicine · 1998 · 305 citations · Full text

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

Takeharu Hayashi, Takuro Arimura, Manatsu Itoh-Satoh et al. · Journal of the American College of Cardiology · 2004 · 300 citations

Cardiomyopathy, Genetics, Tcap Gene Mutations +4