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Publications by Georgina Cope

A New Kindred With Pseudohypoaldosteronism Type II and a Novel Mutation (564D>H) in the Acidic Motif of the WNK4 Gene

Internal Medicine

English

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A Novel Dominant Mutation in the SOX10 Gene in a Chinese Family With Waardenburg Syndrome Type�II

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

Pseudohypoaldosteronism Type II

Internal Medicine

English

A Case of Pseudohypoaldosteronism Type II With Recurrent Urolithiasis, and Hypercalciuria.

Nihon Shoni Jinzobyo Gakkai Zasshi

English

A Novel Germline Inactivating Mutation in the CASR Gene in an Italian Kindred Affected by Familial Hypocalciuric Hypercalcemia

European Journal of Endocrinology

English

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Molecular Biology

English

A Case of Autosomal Dominant Osteopetrosis Type II With a CLCN7 Gene Mutation

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Clinical Characterization of a Kindred With a Novel 12-Octapeptide Repeat Insertion in the Prion Protein Gene

Archives of Neurology

English

A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1

Annals of Pediatric Endocrinology and Metabolism

English

Detection of a Novel Mutation in the CACNA1A Gene

Twin Research and Human Genetics

English