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1. Quality of life in men with Klinefelter syndrome: a multicentre study

2. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

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

4. The impact of Klinefelter syndrome on socioeconomic status: a multicenter study

5. DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review

9. À l’écoute des adolescentes atteintes de dysménorrhées sévères : DEMETER, une étude qualitative innovante pour mieux les accompagner

12. Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis

13. How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients

14. Quality of life in men with Klinefelter syndrome: a multicentre study

18. Liste des collaborateurs

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

21. Gonadal function in Noonan syndrome

23. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

24. The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing

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

26. Quality of life in men with Klinefelter syndrome: a multicentre study

27. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

28. The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing

32. Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults

33. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

34. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

35. Obesity, overweight and pituitary stalk interruption syndrome in children and young adults

36. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

37. Coordination of Complex Systems Based on Multi-agent Planning: Application to the Aircraft Simulation Domain

39. The impact of Klinefelter syndrome on socioeconomic status: a multicenter study

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