Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.
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Wolfram syndrome: new mutations, different phenotypeCongenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?Central nervous system manifestations of mitochondrial disorders.The diagnosis of children with central diabetes insipidus.Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Selective cognitive and psychiatric manifestations in Wolfram Syndrome.Balance impairment in individuals with Wolfram syndromeGlycemic variability in patients with Wolfram syndrome is lower than in type 1 diabetes.Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.Atypical presentations of Wolframs syndromePhenotypic characteristics of early Wolfram syndromeWolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic studyDiabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndromeMale mice with deleted Wolframin (Wfs1) gene have reduced fertility.Current developments in Wolfram syndrome.Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)Endocrine and metabolic aspects of the Wolfram syndrome.The eye as a window to rare endocrine disorders.Syndromes of hearing loss associated with visual loss.Diabetes insipidus in children.Clinical utility gene card for: Wolfram syndrome.A young diabetic with suicidal risk: Rare disease with a rarer presentation.Wolfram syndrome: a clinicopathologic correlation.A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1.A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis.Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies.Longitudinal hearing loss in Wolfram syndrome.
P2860
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P2860
Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh
2004年學術文章
@zh-hant
name
Diabetes mellitus and optic at ...... me in the Lebanese population.
@en
Diabetes mellitus and optic at ...... me in the Lebanese population.
@nl
type
label
Diabetes mellitus and optic at ...... me in the Lebanese population.
@en
Diabetes mellitus and optic at ...... me in the Lebanese population.
@nl
prefLabel
Diabetes mellitus and optic at ...... me in the Lebanese population.
@en
Diabetes mellitus and optic at ...... me in the Lebanese population.
@nl
P2093
P356
P1476
Diabetes mellitus and optic at ...... me in the Lebanese population.
@en
P2093
Loiselet J
P304
P356
10.1210/JC.2002-030015
P407
P577
2004-04-01T00:00:00Z