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1. Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

3. Effects of eight neuropsychiatric copy number variants on human brain structure

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

6. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

7. Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

8. Delineation of 15q13.3 microdeletions

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

10. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

11. Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

15. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

16. Pilot study of submucosal radiofrequency for epistaxis in hereditary hemorrhagic telangiectasia

17. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

18. Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

19. Caractérisation clinique et génétique d’une nouvelle dysplasie ectodermique en mosaïque

21. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

22. Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gne syndrome

23. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

27. Search forReCQL4mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

29. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

30. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

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

32. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

33. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

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

35. G.P.2.05 Two new foetal cases of syndrome of Walker–Warburg related to LARGE gene

36. Agénésie familiale isolée du corps calleux

38. Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia

42. Orofacial clefting: Update on the role of genetics

43. Quantifying the effects of 16p11.2 copy number variants on brain structure: A multisite genetic-first study

44. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

45. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

46. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

47. Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

48. Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

49. Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

50. PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.

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