Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures - ScienceDirect
Prenatal diagnosis of Bardet Biedl Syndrome: A case report - ScienceDirect
Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice - ScienceDirect
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Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures - ScienceDirect
Prenatal Diagnosis of Bardet-Biedl Syndrome: A Case Study and Review of Literature | SpringerLink
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome - ScienceDirect
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
Vesque et al 17 dec
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
RFX7 is required for the formation of cilia in the neural tube - ScienceDirect
L'épaisseur du temps
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
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
Bardet-Biedl Syndrome and Brain Abnormalities
Archives généalogiques en ligne
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome - ScienceDirect
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
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
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
Jazz-Rhone-Alpes.com n° 554 du lundi 22 juin 2015
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-
REPORT Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle
