261 results on '"Badens C"'
Search Results
2. Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)
3. Le séquençage d’ADN à haut débit en pratique clinique
4. Severe neonatal seizures: From molecular diagnosis to precision therapy?
5. Molecular Screening of 'MECP2' Gene in a Cohort of Lebanese Patients Suspected with Rett Syndrome: Report on a Mild Case with a Novel Indel Mutation
6. New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration
7. In utero seizures revealing dentato‐olivary dysplasia caused by SCN2A mutation
8. Dépistage néonatal de la drépanocytose au CHU de Nice : bilan des 8 dernières années
9. P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL
10. Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome
11. Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review
12. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment
13. Analytical evaluation of the Capillarys 2 Flex piercing for routine haemoglobinopathies diagnosis
14. Population drépanocytaire adulte suivie dans un centre de référence de la drépanocytose adulte français : étude transversale descriptive (2017–2018)
15. The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA
16. Three Mexican Families with β thalassemia intermedia with different molecular basis
17. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome
18. Iron overload in thalassaemias and genetic haemochromatosis
19. Newborn screening for sickle cell disease in Europe
20. PRO58 CLINICAL AND ECONOMIC BURDEN OF TRANSFUSION-DEPENDENT BETA-THALASSEMIA IN FRANCE: A RETROSPECTIVE ANALYSIS OF THE FRENCH NATIONAL HEALTH DATA SYSTEM (SNDS)
21. PF788 DATA FROM THE FRENCH REGISTRY FOR BETA-THALASSEMIA PATIENTS
22. Le syndrome NISCH, une cause rare de cholestase néonatale : à propos d’un cas
23. Primary red cell hydration disorders: Pathogenesis and diagnosis
24. Outcome of a school screening programme for carriers of haemoglobin disease. (Short Report)
25. A novel mechanism for thalassaemia intermedia
26. Étude de suivi en conditions réelles de traitement des patients pris en charge par déférasirox
27. Information des parents de nouveau-nés AS à la suite du dépistage néonatal de la drépanocytose : expériences lyonnaise et marseillaise (2001–2010)
28. A genetic score for the prediction of beta-thalassemia severity
29. Nouvelle mutation non sens ( p.E250X) du gène de la tyrosinase chez un homme atteint d’albinisme de type 1A
30. Mutations of codon 2085 in the helicase domain ofATRXare recurrent and cause ATRX syndrome
31. Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome
32. Les diarrhées syndromatiques (syndrome tricho-hépato-entérique) sont causées par des anomalies du complexe SKI, un complexe multiprotéique assurant la dégradation des ARN aberrants
33. HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype
34. OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment
35. Analytical evaluation of the Capillarys 2 Flex piercing for routine haemoglobinopathies diagnosis
36. Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation
37. Variants in genetic modifiers of -thalassemia can help to predict the major or intermedia type of the disease
38. Neonatal screening for sickle cell disease in France: evaluation of the selective process
39. Complications and treatment of patients with -thalassemia in France: results of the National Registry
40. B013 Genetic polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the desir prospective study
41. First case of -thalassemia in association with a S allele: a pitfall in the neonatal screening for sickle cell disease
42. Syndrome ATR-X : une nouvelle mutation du gène XNP/ATRX à proximité du domaine hélicase
43. Characterization of a New Polymorphism, IVS-I-108 (T→C), and a New β-Thalassemia Mutation, -27 (A→T), Discovered in the Course of a Prenatal Diagnosis
44. Hb Toulon [α77(EF6)Pro→His]: a New Variant Due to a Mutation in the α2 Gene Found During Measurement of Glycated Hemoglobin
45. Compound heterozygosity Hb S/Hb Hope (β136Gly→Asp): a pitfall in the newborn screening for sickle cell disease
46. A Novel Polymorphism 3′ to the β-Globin Gene
47. Une anomalie génétique de l'hémoglobine méconnue: la thalassémie alpha
48. A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.
49. Hb Bruxelles, deletion of Phebeta42, shows a low oxygen affinity and low cooperativity of ligand binding.
50. P.I.3 Recent advances in defective prelamin A associated syndromes
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