23 results on '"Legendre, Marie"'
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2. Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49
3. Motile cilia and airway disease
4. NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations
5. Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria
6. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella
7. COPA Syndrome as a Cause of Lupus Nephritis
8. Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
9. A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation)
10. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance
11. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
12. Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes
13. Screening a Large Pediatric Cohort with GH Deficiency for Mutations in Genes Regulating Pituitary Development and GH Secretion: Frequencies, Phenotypes and Growth Outcomes
14. Association d’une maladie de Verneuil à une fièvre méditerranéenne familiale : 6 cas
15. Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients
16. Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
17. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
18. Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
19. Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia
20. Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia
21. Y-chromosome AZFc structural architecture and relationship to male fertility
22. Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco
23. Spinal or systemic analgesia after extensive spinal surgery: Comparison between intrathecal morphine and intravenous fentanyl plus clonidine
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