Results 131 to 140 of about 6,576 (240)

The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism [PDF]

open access: bronze, 2006
Irina Giurgea   +12 more
openalex   +1 more source

Congenital Hyperinsulinism–Associated ABCC8 Mutations That Cause Defective Trafficking of ATP-Sensitive K+ Channels [PDF]

open access: bronze, 2007
Fei-Fei Yan   +5 more
openalex   +1 more source

Destabilization of ATP-sensitive Potassium Channel Activity by Novel KCNJ11 Mutations Identified in Congenital Hyperinsulinism [PDF]

open access: hybrid, 2008
Yu-Wen Lin   +7 more
openalex   +1 more source

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant [PDF]

open access: bronze, 2008
Ulrike Hennewig   +8 more
openalex   +1 more source

1100 Presentation, Clinical and Genetic Outcomes in a Series of Infants with Congenital Hyperinsulinism [PDF]

open access: bronze, 2010
Áine Carroll   +6 more
openalex   +1 more source

A Japanese Case of Congenital Hyperinsulinism with Hyperammonemia Due to a Mutation in Glutamate Dehydrogenase (GLUD1) Gene.

open access: bronze, 2001
Kazuki Yasuda   +6 more
openalex   +2 more sources

The Heterogeneity of Focal Forms of Congenital Hyperinsulinism [PDF]

open access: bronze, 2011
Dunia Ismail   +8 more
openalex   +1 more source

Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers [PDF]

open access: yes, 2015
Alena Welters   +6 more
core   +1 more source

Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes:HNF1AandHNF4A [PDF]

open access: bronze, 2012
Diana E. Stanescu   +4 more
openalex   +1 more source

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