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Your search keyword '"Laboratoire de Génétique Moléculaire et d'Histocompatibilité [Brest]"' showing total 13 results

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13 results on '"Laboratoire de Génétique Moléculaire et d'Histocompatibilité [Brest]"'

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1. Transformation d’un mélanocytome méningé en mélanome : étude clinique, histopathologique et cytogénétique

2. Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

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3. CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

4. HLA-DRB3/4/5 mismatches are associated with increased risk of acute GVHD in 10/10 matched unrelated donor hematopoietic cell transplantation

5. Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study

6. Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene

7. Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening

8. A misleading false-negative result of Pneumocystis real-time PCR assay due to a rare punctual mutation: A French multicenter study

9. Revisiting the molecular epidemiology of factor XI deficiency: Nine new mutations and an original large 4qTer deletion in western Brittany (France)

10. Is there any impact of HLA-DPB1 disparity in 10/10 HLA-matched unrelated hematopoietic SCT? Results of a French multicentric retrospective study

11. Pneumocystis jirovecii in the air surrounding patients with Pneumocystis pulmonary colonization

12. A small de novo 16q24.1 duplication in a woman with severe clinical features

13. A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young French Patients