scholarly journals HNF1A Gene Mutation

2020 ◽  
Author(s):  
Keyword(s):  
Gene Mutation ◽  
Hnf1a Gene

scholarly journals P287 Transient neonatal hyperinsulinaemic hypoglycaemia secondary to a hnf1a gene mutation

2019 ◽  
Author(s):  
Sabrina Sheridan ◽  
Laura McCarron ◽  
Gillian O’Donnell ◽  
Eirin Carolan ◽  
Nuala P Murphy
Keyword(s):  
Gene Mutation ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Hnf1a Gene

A novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) gene mutation, presenting with neonatal cholestasis

2015 ◽  
Vol 63 (5) ◽  
pp. 1295-1297 ◽  
Author(s):  
Aleida G.M. de Vries ◽  
Willie M. Bakker-van Waarde ◽  
Anne C.M. Dassel ◽  
Monique Losekoot ◽  
Evelien W. Duiker ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Nuclear Factor ◽  
Neonatal Cholestasis ◽  
Hepatocyte Nuclear Factor ◽  
Hnf1a Gene

scholarly journals A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations

2017 ◽  
Vol 9 (1) ◽  
pp. 413-420 ◽  
Author(s):  
A. K. Ovsyannikova ◽  
O. D. Rymar ◽  
D. E. Ivanoshchuk ◽  
Svetlana V. Mikhailova ◽  
E. V. Shakhtshneider ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Hnf1a Gene

Abstract #703: An Adult Patient with Severe Hypocalciuric Hypercalcemia with Negative Casr Gene Mutation

2015 ◽  
Vol 21 ◽  
pp. 124-125
Author(s):  
Grace Kim ◽  
Michael Marchese ◽  
Hassan Shawa ◽  
Matthew Leinung ◽  
Sara Clark
Keyword(s):  
Adult Patient ◽  
Gene Mutation ◽  
Casr Gene

SCREENING OF FSH RECEPTOR GENE MUTATION (C566T) IN AZOOSPERMIC MEN IN JAPAN

2006 ◽  
Vol 52 (1) ◽  
pp. 15-19 ◽  
Author(s):  
T. Ishikawa ◽  
M. Fujisawa ◽  
J. Tapanainen
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Fsh Receptor ◽  
Fsh Receptor Gene

A frequent gene mutation associated with autosomal dominant Parkinson's disease

The Lancet ◽  
2005 ◽  
Vol 365 (9457) ◽  
pp. 412-415 ◽  
Author(s):  
A DIFONZO ◽  
C ROHE ◽  
J FERREIRA ◽  
H CHIEN ◽  
L VACCA ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Autosomal Dominant
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