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

2. Duplication of 10q24 locus: broadening the clinical and radiological spectrum

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

4. A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

5. A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

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

7. Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

8. Null Mutations Causing Depletion of the Type 1 Ryanodine Receptor (RYR1) Are Commonly Associated With Recessive Structural Congenital Myopathies With Cores

9. Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

11. Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

12. Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation

13. Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome

16. Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

17. Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.

18. LAZ3Rearrangements in Non-Hodgkin’s Lymphoma: Correlation With Histology, Immunophenotype, Karyotype, and Clinical Outcome in 217 Patients

20. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

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