Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Hyperinsulinism and HADH[original query] |
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Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. European journal of endocrinology / European Federation of Endocrine Societies 2013 Jan . Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. The Journal of clinical endocrinology and metabolism 2012 Dec . Snider KE, Becker S, Boyajian L, Shyng SL, Macmullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A |
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. American journal of human genetics 2013 Jan 92 (1): 131-6. Flanagan Sarah E, Xie Weijia, Caswell Richard, Damhuis Annet, Vianey-Saban Christine, Akcay Teoman, Darendeliler Feyza, Bas Firdevs, Guven Ayla, Siklar Zeynep, Ocal Gonul, Berberoglu Merih, Murphy Nuala, O'Sullivan Maureen, Green Andrew, Clayton Peter E, Banerjee Indraneel, Clayton Peter T, Hussain Khalid, Weedon Michael N, Ellard Si |
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism. The Journal of clinical endocrinology and metabolism 2015 Oct jc20152763. Rozenkova Klara, Malikova Jana, Nessa Azizun, Dusatkova Lenka, Bjørkhaug Lise, Obermannova Barbora, Dusatkova Petra, Kytnarova Jitka, Aukrust Ingvild, Najmi Laeya, Rypackova Blanka, Sumnik Zdenek, Lebl Jan, Njølstad Pål R, Hussain Khalid, Pruhova Stepan |
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 |
Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism. Journal of clinical research in pediatric endocrinology 2015 Dec . Güven Ayla, Cebeci Ay?e Nurcan, Ellard Sian, Flanagan Sarah |
Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism. Case reports in endocrinology 2021 5 2021 8826174. Hashemian Somayyeh, Esfehani Reza Jafarzadeh, Karimdadi Siroos, Ghaemi Nosrat, Eshraghi Peyman, Gonabadi Najmeh Malekzadeh, Sahebkar Amirhossein, Vakili Rahim, Abbaszadegan Mohammad Re |
Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism. Journal of clinical research in pediatric endocrinology 2021 12 14 (1): 87-95. Razzaghy-Azar Maryam, Saeedi Saeedeh, Dayani Sepideh Borhan, Enayati Samaneh, Abbasi Farzaneh, Hashemian Somayyeh, Eshraghi Peyman, Karimdadi Siroos, Tajdini Parisa, Vakili Rahim, Amoli Mahsa M., Yaghootkar Hani |
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- Page last updated:Apr 22, 2024
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