Discover open access scientific publications

Search, annotate, share and cite publications

Publications by H Gee

Mutations of IFT81, Encoding an IFT-B Core Protein, as a Rare Cause of a Ciliopathy

English

Related publications

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

American Journal of Human Genetics

English

Confirmation of EP300 Gene Mutations as a Rare Cause of Rubinstein–Taybi Syndrome

European Journal of Human Genetics

English

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

American Journal of Human Genetics

English

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

American Journal of Human Genetics

English

A Rare Cause of an Adrenal Incidentaloma

Forensic Medicine

English

Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

American Journal of Human Genetics

English

Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

American Journal of Human Genetics

English

Case Report: Case Report: Pulmonary Hemorrhage as a Rare Cause of Lung Ultrasound a/B-Profile

Molecular Biology

English

Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations

American Journal of Human Genetics

English