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TCTN3 mutations cause Mohr-Majewski syndromeSHOX mutations in dyschondrosteosis (Leri-Weill syndrome)Glutamine synthetase is essential for proliferation of fetal skin fibroblastsLarge-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.Mutations in the pre-replication complex cause Meier-Gorlin syndromeClinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyA C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome familyMutations in the pericentrin (PCNT) gene cause primordial dwarfismCerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletionA founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of IndiaAssociation of TALS developmental disorder with defect in minor splicing component U4atac snRNAThe 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.[Carbohydrate-deficient glycoprotein syndrome and progression in electrophysiological results].Inborn error of amino acid synthesis: human glutamine synthetase deficiency.[Cortical malformations and epilepsy: Role of MR imaging]Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsSplenogonadal fusion limb defect syndrome: report of five new cases and review.Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.Exclusion of RAI2 as the causative gene for Nance-Horan syndrome.Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.Trisomy 7p: report of 2 patients and literature review.Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.Fetal fibrochondrogenesis at 26 weeks' gestation.Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.Barth syndrome in a female patient.Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation conditionA gene for hereditary multiple exostoses maps to chromosome 19p.Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).Further delineation of the KAT6B molecular and phenotypic spectrumMutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experienceGenomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly
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description
Frans arts
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hulumtuese
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médecin et généticienne française
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researcher
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ricercatrice
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հետազոտող
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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prefLabel
Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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Annick Toutain
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P214
P269
P106
P108
P1412
P21
P214
P269
P27
P31
P496
0000-0002-5999-5300
P735
P7859
viaf-207065531