78 results on '"A, Nivelon"'
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2. Assessment of the operation safety margin of the HL-LHC superconducting recombination Dipole D2 in case of helium filling failure
3. Les tests et empreintes génétiques : enjeux de société
4. Superfluid Helium cooling and compact Heat Exchanger for HL-LHC D2 Recombination Dipoles
5. Second test campaign of a pilot scale latent heat thermal energy storage – Durability and operational strategies
6. Evaluation of the Predictive Value of Neurological Clinical Symptoms Amongst Low-Birth-Weight Infants from 3 to 18 Months Old
7. Use of Register of Low-Birth-Weight Infants for the Evaluation of Adiposity Indices
8. Evaluation des Processus de Soins aux «Petits Poids de Naissance» Presentation du Systeme
9. Psychomotric Development of Low-Birth-Weight Infants - Methods and Preliminary Results
10. Gestion de l'eau pour la fabrication des papiers et cartons
11. Coupling a Chemical Reaction Engine with a Mass Flow Balance Process Simulation for Scaling Management in Papermaking Process Waters
12. Scaling risk assessment in a closed circuit recycled board mill by speciation methods
13. Speciation and supersaturation model in papermaking streams
14. Lipodystrophie de berardinelli diagnostic précoce chez un enfant portugais de parents consanguins
15. La culture médicale et l'intervention précoce
16. Diagnostic prénatal et trisomie 21 regard sur une évolution législative
17. New autosomal recessive chondrodysplasia???pseudohermaphrodism syndrome
18. Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot–Marie–Tooth presentation
19. Unique survival in chrondrodysplasia-hermaphrodism syndrome
20. Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations
21. Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity
22. TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment
23. Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis
24. Familial aortic dissection/aneurysm associated with patent ductus arteriosus: a new entity?
25. Exposure to hydroxyurea during pregnancy: a case series
26. Infantile systemic hyalinosis: a case with atypical prolonged survival
27. A major locus for several phenotypes of myoclonus–dystonia on chromosome 7q
28. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
29. Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome
30. Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly
31. Association of Marfan's Syndrome and Turner's Syndrome
32. Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain
33. Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly
34. Can Hutchinson-Gilford progeria syndrome be a neonatal condition?
35. Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
36. Long-term results of GH therapy in GH-deficient children treated before 1 year of age
37. Vitamin K deficiency embryopathy
38. Rattrapage statural des enfants ayant un déficit en hormone de croissance traités dès la première année de vie
39. Vitamin A deficiency and nocturnal vision in teenagers with cystic fibrosis
40. Le syndrome de smith lemli opitz Trois cas féminins de diagnostic néonatal. Difficultés de distinction entre les deux types
41. Increased paternal age in CHARGE association
42. Percentage of free serum prostate-specific antigen: A new tool in the early diagnosis of prostatic cancer
43. LETTER TO THE EDITOR.DE NOVO INTERSTITIAL PROXIMAL DELETION OF 14q AND PRENATAL DIAGNOSIS OF HOLOPROSENCEPHALY
44. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes
45. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes
46. Survey of LGMD2A mutations
47. Aérosolthérapie et mucoviscidose: Enquête nationale
48. Cerebrovascular disease in children under 16 years of age in the city of Dijon, France: A study of incidence and clinical features from 1985 to 1993
49. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
50. Dépistage de l'hyperplasie congénitale des surrénales par déficit en 21 hydroxylase (HSC)
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