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Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-
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
Vesque et al 17 dec
Bardet-Biedl Syndrome and Brain Abnormalities
Archives généalogiques en ligne
Prenatal Diagnosis of Bardet-Biedl Syndrome: A Case Study and Review of Literature | SpringerLink
Prenatal Diagnosis of Bardet-Biedl Syndrome: A Case Study and Review of Literature | SpringerLink
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
Frontiers | Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances
Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice - ScienceDirect
Jazz-Rhone-Alpes.com n° 554 du lundi 22 juin 2015
Jazz-Rhone-Alpes.com n° 554 du lundi 22 juin 2015
Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice - ScienceDirect
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
Combined T- and B-Cell Immunodeficiencies | SpringerLink
REPORT Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle
RFX7 is required for the formation of cilia in the neural tube - ScienceDirect
Liste des candidats dans les communes de plus de 1 000 habitants
RFX7 is required for the formation of cilia in the neural tube - ScienceDirect
Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice - ScienceDirect
