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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Association of Vitamin D Deficiency and Treatment with COVID-19 Incidence.
High survival and organ function rates after primary chemoradiotherapy for intermediate-stage squamous cell carcinoma of the head and neck treated in a multicenter phase II trial.
Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.
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Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.
Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetologia. 2006 May; 49(5):1106-8.
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PubMed
subject areas
Amino Acid Substitution
Apolipoproteins
Body Mass Index
Diabetes Mellitus, Type 2
Female
Glucose Tolerance Test
Hepatocyte Nuclear Factor 4
Humans
Male
Mutation
Pedigree
Phenotype
authors with profiles
Graeme Bell