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510 results on '"Odent S"'

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2. ARID1B-related disorder in 87 adults: Natural history and self-sustainability

6. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

7. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

10. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

11. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

12. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

13. Fetal phenotypes in otopalatodigital spectrum disorders

14. Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome

15. Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

17. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

19. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

20. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

24. Delineation of 15q13.3 microdeletions

26. Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome

35. Architecture génétique de l’insuffisance ovarienne primitive à partir d’une large cohorte de 375 patientes : nouveaux gènes et voies moléculaires identifiés, implication pour une médecine personnalisée

36. Spectrum of NSD1 mutations in Sotos and Weaver syndromes

47. Phenotypical variability in loci of holoprosencephaly

49. Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

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