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VaRank: a simple and powerful tool for ranking genetic variants
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort
Differentiating Alstrom from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype
Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability
Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice
A Novel Mutation Involving the Initiation Codon of FGF3 in a Family Described with Complete Inner Ear Agenesis, Microtia and Major Microdontia (LAMM Syndrome)
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations
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
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.

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