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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
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-
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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
RFX7 is required for the formation of cilia in the neural tube - ScienceDirect
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RFX7 is required for the formation of cilia in the neural tube - ScienceDirect
Bardet-Biedl Syndrome and Brain Abnormalities
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome - ScienceDirect
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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
Combined T- and B-Cell Immunodeficiencies | SpringerLink
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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
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
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
Prenatal diagnosis of Bardet Biedl Syndrome: A case report - ScienceDirect
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