Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome - ScienceDirect
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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-
Nima Rezaei Asghar Aghamohammadi Luigi D. Notarangelo Editors Definition, Diagnosis, and Management Second Edition
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Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures - ScienceDirect
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
Prenatal diagnosis of Bardet Biedl Syndrome: A case report - ScienceDirect
Bardet-Biedl Syndrome and Brain Abnormalities
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en cliquant ici! - Cavadeos
Combined T- and B-Cell Immunodeficiencies | SpringerLink
Prenatal diagnosis of Bardet Biedl Syndrome: A case report - ScienceDirect
Prenatal Diagnosis of Bardet-Biedl Syndrome: A Case Study and Review of Literature | SpringerLink
REPORT Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle
Prenatal Diagnosis of Bardet-Biedl Syndrome: A Case Study and Review of Literature | SpringerLink
Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice - ScienceDirect
RFX7 is required for the formation of cilia in the neural tube - ScienceDirect
RFX7 is required for the formation of cilia in the neural tube - ScienceDirect
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome - ScienceDirect
Frontiers | Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
