Search

Your search keyword '"Manouvrier S"' showing total 175 results

Search Constraints

Start Over You searched for: Author "Manouvrier S" Remove constraint Author: "Manouvrier S"
175 results on '"Manouvrier S"'

Search Results

3. Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

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

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

7. DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies

10. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

11. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

12. Identification of symbol digit modality test score extremes in Huntington's disease

14. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

21. Suicidal ideation in a European Huntington's disease population

22. SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1‐mutated patient's management

23. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

25. Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management

27. IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign.

28. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

30. IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

31. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

32. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia (OSMED) is associated with loss-of-function mutations in the COL11A2 gene.

35. Forme respiratoire néonatale létale de la maladie de Niemann-Pick C2 et diagnostic anténatal par l'étude des mutations du gène HE1/NPC2

37. Cystic Fibrosis and Congenital Absence of the Vas Deferens

46. Prenatal diagnosis of PIBIDS

47. Aneurysm syndromes caused by mutations in the TGF-ß receptor.

48. RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

49. A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.

50. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

Catalog

Books, media, physical & digital resources