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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
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS

Postnatal age-differential ASD-like transcriptomic, synaptic, and  behavioral deficits in Myt1l-mutant mice - ScienceDirect
Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice - ScienceDirect

Prenatal diagnosis of Bardet Biedl Syndrome: A case report - ScienceDirect
Prenatal diagnosis of Bardet Biedl Syndrome: A case report - ScienceDirect

Jazz-Rhone-Alpes.com n° 554 du lundi 22 juin 2015
Jazz-Rhone-Alpes.com n° 554 du lundi 22 juin 2015

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the  selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
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
Combined T- and B-Cell Immunodeficiencies | SpringerLink

Nima Rezaei Asghar Aghamohammadi Luigi D. Notarangelo Editors Definition,  Diagnosis, and Management Second Edition
Nima Rezaei Asghar Aghamohammadi Luigi D. Notarangelo Editors Definition, Diagnosis, and Management Second Edition

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
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
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
Prenatal diagnosis of Bardet Biedl Syndrome: A case report - ScienceDirect

Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic  Hirschsprung Disease with Involvement of Midline Structures - ScienceDirect
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
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
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
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
Liste des candidats dans les communes de plus de 1 000 habitants

Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic  Hirschsprung Disease with Involvement of Midline Structures - ScienceDirect
Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures - ScienceDirect

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome -  ScienceDirect
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome - 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

REPORT Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important  Piece to the Ciliopathy Puzzle
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
Prenatal Diagnosis of Bardet-Biedl Syndrome: A Case Study and Review of Literature | SpringerLink

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
Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice - ScienceDirect

Bardet-Biedl Syndrome and Brain Abnormalities
Bardet-Biedl Syndrome and Brain Abnormalities