Detalhe da pesquisa
1.
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2.
Implication of non-coding PAX6 mutations in aniridia.
Hum Genet
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3.
FOXE3 mutations: genotype-phenotype correlations.
Clin Genet
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Artigo
em Inglês
| MEDLINE | ID: mdl-29136273
4.
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study.
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Artigo
em Inglês
| MEDLINE | ID: mdl-28105635
5.
Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.
Clin Genet
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em Inglês
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6.
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
Clin Genet
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Artigo
em Inglês
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7.
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.
Clin Genet
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em Inglês
| MEDLINE | ID: mdl-24890733
8.
[Leucoderma in children: Review of the literature]. / Leucodermies chez l'enfant : revue de la littérature.
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9.
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
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Artigo
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10.
Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome.
Clin Genet
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Artigo
em Inglês
| MEDLINE | ID: mdl-24684473
11.
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.
Clin Genet
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Artigo
em Inglês
| MEDLINE | ID: mdl-23692385
12.
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Clin Genet
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em Inglês
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13.
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.
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Artigo
em Inglês
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14.
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.
Nat Genet
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15.
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
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16.
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
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17.
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.
Clin Genet
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Artigo
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18.
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.
Clin Genet
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em Inglês
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19.
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
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Artigo
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20.
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Hum Mutat
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