42 results on '"A. Hadchouel"'
Search Results
2. Factors Associated with Asthma Severity in Children: Data from the French COBRAPed Cohort
3. Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients
4. A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis
5. Successful lung transplantation in genetic methionyl-tRNA synthetase–related alveolar proteinosis/lung fibrosis without recurrence under methionine supplementation: Medium-term outcome in 4 cases
6. 56 - Regulation of Alveolarization
7. Parents' views on artificial intelligence for the daily management of childhood asthma: a survey
8. Alagille Syndrome in Adult Patients: It Is Never Too Late
9. (1212) Successful Lung Transplantation for Genetic Pulmonary Alveolar Proteinosis Caused by Methionyl-TRNA Synthetase (MARS) Mutation: 2 Cases
10. Life and death of the distal nephron: WNK4 and NCC as major players
11. Inherited Sodium Avid States
12. Cardiovascular Expression of the Mouse WNK1 Gene during Development and Adulthood Revealed by a BAC Reporter Assay
13. An enhancer directs differential expression of the linked Mrf4 and Myf5 myogenic regulatory genes in the mouse
14. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
15. Contributors
16. Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28
17. Toward virtual simulation for parents of children with asthma
18. 62 - Regulation of Alveolarization
19. The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood
20. JAGGED1 Gene Expression During Human Embryogenesis Elucidates the Wide Phenotypic Spectrum of Alagille Syndrome
21. Risk of gastrointestinal bleeding during adolescence and early adulthood in children with portal vein obstruction
22. Degradation by Cullin 3 and effect on WNK kinases suggest a role of KLHL2 in the pathogenesis of Familial Hyperkalemic Hypertension
23. Cholesterol efflux from Fu5AH cells to the serum of patients with Alagille syndrome: importance of the HDL-phospholipids/free cholesterol ratio and of the HDL size distribution
24. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis
25. Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome
26. Biallelic mutations of the methionyl-tRNA synthetase (MARS) cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island
27. Contributors
28. An enhancer directs differential expression of the linked Mrf4 and Myf5 myogenic regulatory genes in the mouse
29. 669 Surgical intervention outcomes in FIC1 (ATP8B1) and BSEP (ABCB11) disease
30. Construction of a 3.7-Mb Physical Map within Human Chromosome 20p12 Ordering 18 Markers in the Alagille Syndrome Locus
31. Construction of an Integrated Physical and Gene Map of Human Chromosome 20p12 Providing Candidate Genes for Alagille Syndrome
32. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis
33. Hepatocyte Nuclear Factor 1 Inactivation Results in Hepatic Dysfunction, Phenylketonuria, and Renal Fanconi Syndrome
34. Action des extraits de Carica papaya sur un ictère expérimental cree chez le rat par des saponosides provenant du Brenania brieyi
35. Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation
36. Abnormal lipoprotein pattern in patients with Alagille syndrome depends on Icterus severity
37. Long-term outcome after surgery for biliary atresia: Study of 40 patients surviving for more than 10 years
38. Obstructive jaundice in children with histiocytosis X
39. Developmental and Tissue-Specific Regulation of the Murine Cardiac Actin Genein VivoDepends on Distinct Skeletal and Cardiac Muscle-Specific Enhancer Elements in Addition to the Proximal Promoter
40. Correction of Fumarylacetoacetate Hydrolase Deficiency (Type I Tyrosinemia) in Cultured Human Fibroblasts by Retroviral-Mediated Gene Transfer
41. 7 - Sex-Dependent de Novo Methylation of the Transgene and Its Insertional Locus on Mouse Chromosome 13
42. Ontogenic expression of the Na +-independent organic anion transporter (oatp) in rat liver and kidney
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