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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 15, 2024. (Total: 231458Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Congenital Hyperinsulinism and SLC16A1[original query]
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
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
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.
The Journal of clinical endocrinology and metabolism 2020 3 105 (4): .
Männistö Jonna M E, Maria Maleeha, Raivo Joose, Kuulasmaa Teemu, Otonkoski Timo, Huopio Hanna, Laakso Mark
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