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Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations
A Novel Mutation Involving the Initiation Codon of FGF3 in a Family Described with Complete Inner Ear Agenesis, Microtia and Major Microdontia (LAMM Syndrome)
MSX2 Gene Duplication in a Patient with Eye Development Defects.
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly
Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations
Épidémiologie des fentes labio-palatines : expérience du Registre de malformations congénitales d’Alsace entre 1995 et 2006 [Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]
Homozygous truncating variants in TBC1D23 cause pontocerebellar hypoplasia and alter cortical development
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

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