Associated Papers
Fetal renal cystic disease and post-natal follow up-a single center experience.
Botero-Calderon L et al.
Frontiers in Pediatrics, 2023
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3A
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
Scheidecker S et al.
American Journal of Ophthalmology, 2015
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].
Dollfus H et al.
Medecine Sciences : M/s, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Stoetzel C et al.
Nature Genetics, 2006
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