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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 - 7 (of 7 Records)

Query Trace: Counseling and ABCC8[original query]
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
Human mutation 2006 1 27 (2): 214.
Fernández-Marmiesse Ana, Salas Antonio, Vega Ana, Fernández-Lorenzo José Ramón, Barreiro Jesús, Carracedo Ang
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.
Genetics in medicine : official journal of the American College of Medical Genetics 2011 Oct 13 (10): 891-4.
Glaser Benjamin, Blech Ilana, Krakinovsky Yocheved, Ekstein Josef, Gillis David, Mazor-Aronovitch Kineret, Landau Heddy, Abeliovich Dvor
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
[Analysis of genetic variants in four children with congenital hyperinsulinemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 7 38 (7): 635-638.
Lin Li, Shen Fei, Yang Qi, Yi Shang, Qin Zailong, Zhang Qiang, Luo Jingsi, Gao Xiaoyan, He She
Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt.
Annals of pediatric endocrinology & metabolism 2022 2 27 (3): 214-222.
Abdelmeguid Yasmine, Mowafy Ehsan Wafa, Marzouk Iman, Franco Elisa De, ElSayed Shaym
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