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JOURNAL OF PEDIATRICS, ISSN 0022-3476, 01/2019, Volume 204, pp. 31 - 37
Objectives To characterize the diversity and prevalence of thoraco-abdominal abnormalities in Bardet-Biedl syndrome (BBS), a model ciliopathy for understanding... 
PRIMARY CILIARY DYSKINESIA | BBS1 | RETARDATION | ANOMALIES | MOTILE | LATERALITY DEFECTS | DISEASE | PEDIATRICS | DYSFUNCTION | INVERSUS | TRIALLELIC INHERITANCE
Journal Article
CELL, ISSN 0092-8674, 05/2004, Volume 117, Issue 4, pp. 541 - 552
Cilia and flagella are microtubule-based structures nucleated by modified centrioles termed basal bodies. These biochemically complex organelles have more than... 
CAENORHABDITIS-ELEGANS | CHLAMYDOMONAS-REINHARDTII | POLYCYSTIC KIDNEY-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | HUMAN OBESITY SYNDROME | BARDET-BIEDL-SYNDROME | C-ELEGANS | CELL-CYCLE PROGRESSION | SENSORY CILIA | INTRAFLAGELLAR TRANSPORT | TRIALLELIC INHERITANCE | CELL BIOLOGY
Journal Article
ITALIAN JOURNAL OF PEDIATRICS, ISSN 1720-8424, 06/2019, Volume 45, Issue 1, pp. 72 - 8
BackgroundBardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is... 
CONTRIBUTOR | triallelic inheritance | ALLELES | VARIANTS | GENETICS | PHENOTYPE | PEDIATRICS | Bardet-Biedl syndrome | NGS | IDENTIFICATION | PROTEINS | Genetic diagnosis | Proteins | Genotype & phenotype | Phenotypes | Genes | Heredity | Mutation | Patients | Polygenic inheritance | Hypogonadism | Deoxyribonucleic acid--DNA | Genotypes | Hereditary diseases | Genetic diagnosis; triallelic inheritance
Journal Article
Cell, ISSN 0092-8674, 2011, Volume 147, Issue 1, pp. 70 - 79
Journal Article
Journal Article
Nature, ISSN 0028-0836, 10/2003, Volume 425, Issue 6958, pp. 628 - 633
Journal Article
Genome Medicine, ISSN 1756-994X, 07/2012, Volume 4, Issue 7, p. 58
The pace of exome and genome sequencing is accelerating, with the identification of many new disease-causing mutations in research settings, and it is likely... 
LOSS-OF-FUNCTION | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | CANCER SUSCEPTIBILITY | WIDE ASSOCIATION | SOMATIC MOSAICISM | DETECTABLE CLONAL MOSAICISM | NON-SYNONYMOUS VARIANTS | TRIALLELIC INHERITANCE | MITOTIC RECOMBINATION | FUNCTIONAL GENOMICS
Journal Article