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Your search keyword '"Clauin S"' showing total 23 results

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2. Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies

3. Recurrent reciprocal genomic Rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

4. Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1? (TCF1) promoter region in MODY patients

5. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

6. 35th Annual Meeting of the European Association for the Study of Diabetes

7. 35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

8. Maturity Onset Diabetes of the Young 5.

9. Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia.

10. Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.

11. Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience.

12. Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia.

13. Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

14. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.

15. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

16. Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5.

17. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.

18. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.

19. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.

20. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

21. Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families.

22. Novel mutations in CYP21 detected in individuals with hyperandrogenism.

23. Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.

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