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The Journal of Clinical Endocrinology and Metabolism
|
March 1, 2007
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings
Emma L Edghill, Anna L Gloyn, Anne Goriely, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 28, 2011
The heterogeneity of focal forms of congenital hyperinsulinism
Dunia Ismail, Ritika R Kapoor, Virpi V Smith, et al.
Molecular Genetics & Genomic Medicine
|
April 3, 2021
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)
Sumaya Islam, Mehmet Tekman, Sarah E Flanagan, et al.
European Journal of Endocrinology
|
September 10, 2014
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations
Ved Bhushan Arya, Maria Guemes, Azizun Nessa, et al.
Diabetes Care
|
May 14, 2009
Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect
Janani Kumaraguru, Sarah E Flanagan, Siri Atma W Greeley, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 27, 2014
Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia
Prabhakaran Kalaivanan, Ved Bhushan Arya, Pratik Shah, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
July 25, 2015
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
Evgenia Globa, Nataliya Zelinska, Deborah J G Mackay, et al.
Diabetologia
|
August 31, 2023
Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing
Alice E Hughes, Jayne A L Houghton, Benjamin Bunce, et al.
Clinical Genetics
|
July 20, 2022
A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly
Elisa De Franco, Matthew N Wakeling, Russel D Frew, et al.
Endocrine Connections
|
August 11, 2022
Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1
Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, et al.
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of 22
Search research articles
Search
Showing results (81-90 of 213) with videos related to
Sort By:
Page
of 22
The Journal of Clinical Endocrinology and Metabolism
|
March 1, 2007
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings
Emma L Edghill, Anna L Gloyn, Anne Goriely, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 28, 2011
The heterogeneity of focal forms of congenital hyperinsulinism
Dunia Ismail, Ritika R Kapoor, Virpi V Smith, et al.
Molecular Genetics & Genomic Medicine
|
April 3, 2021
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)
Sumaya Islam, Mehmet Tekman, Sarah E Flanagan, et al.
European Journal of Endocrinology
|
September 10, 2014
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations
Ved Bhushan Arya, Maria Guemes, Azizun Nessa, et al.
Diabetes Care
|
May 14, 2009
Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect
Janani Kumaraguru, Sarah E Flanagan, Siri Atma W Greeley, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 27, 2014
Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia
Prabhakaran Kalaivanan, Ved Bhushan Arya, Pratik Shah, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
July 25, 2015
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
Evgenia Globa, Nataliya Zelinska, Deborah J G Mackay, et al.
Diabetologia
|
August 31, 2023
Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing
Alice E Hughes, Jayne A L Houghton, Benjamin Bunce, et al.
Clinical Genetics
|
July 20, 2022
A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly
Elisa De Franco, Matthew N Wakeling, Russel D Frew, et al.
Endocrine Connections
|
August 11, 2022
Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1
Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, et al.
Page
of 22