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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Counseling and HNF4A[original query]
Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.
Annals of human genetics 2014 Sep 78 (5): 311-9.
Jahnavi Suresh, Poovazhagi Varadarajan, Kanthimathi Sekar, Balamurugan Kandasamy, Bodhini Dhanasekaran, Yadav Jaivinder, Jain Vandana, Khadgawat Rajesh, Sikdar Mahuya, Bhavatharini Ayurchelvan, Das Ashok Kumar, Kaur Tanvir, Mohan Viswanathan, Radha Venkates
Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.
Molecular genetics & genomic medicine 2015 Nov 3 (6): 526-36.
Fan Zi-Chuan, Ni Jin-Wen, Yang Lin, Hu Li-Yuan, Ma Si-Min, Mei Mei, Sun Bi-Jun, Wang Hui-Jun, Zhou Wen-H
Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy.
Pediatric diabetes 2019 10 21 (1): 28-39.
Tatsi Elizabeth B, Kanaka-Gantenbein Christina, Scorilas Andreas, Chrousos George P, Sertedaki Amal
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
American journal of human genetics 2022 10 109 (11): 2018-2028.
Mirshahi Uyenlinh L, Colclough Kevin, Wright Caroline F, Wood Andrew R, Beaumont Robin N, Tyrrell Jessica, Laver Thomas W, Stahl Richard, Golden Alicia, Goehringer Jessica M, , Frayling Timothy F, Hattersley Andrew T, Carey David J, Weedon Michael N, Patel Kashyap
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