649 results on '"Pals, G."'
Search Results
2. Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
3. Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation*
4. The intricate mechanism of PLS3 in bone homeostasis and disease
5. Invasive Breast Cancer: Overexpression of HER-2 Determined by Immunohistochemistry and Multiplex Ligation-Dependent Probe Amplification
6. The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutations
7. Primary ciliary dyskinesia in Volendam: diagnostic and phenotypic features in patients with a CCDC114 mutation
8. Exhaled molecular profiles in the assessment of cystic fibrosis and primary ciliary dyskinesia
9. The revised role of TGF-β in aortic aneurysms in Marfan syndrome
10. Transcription Regulation of Human and Porcine Pepsinogen A
11. Growth of the aortic root in children and young adults with Marfan syndrome
12. Classification of Osteogenesis Imperfecta revisited
13. Analysis of the Promoter of a Human Pepsinogen a Gene
14. Preconceptional Screening of Couples for Carriers of Cystic Fibrosis : A Prospective Evaluation of Effects, Costs and Savings for Different Mutation Detection Methods1
15. Compound-heterozygous Marfan syndrome
16. Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation*
17. Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation
18. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome
19. A novel BRCA2 mutation in a Indonesian family found with a new, rPurnomosari, Dapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing
20. An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection
21. Ehlers–Danlos arthrochalasia type (VIIA–B) – expanding the phenotype: from prenatal life through adulthood
22. Enhanced assessment of allogeneic bone marrow transplant engraftment using automated fluorescent-based typing
23. Genome-wide Linkage in Three Dutch Families Maps a Locus for Abdominal Aortic Aneurysms to Chromosome 19q13.3
24. A novel rapid and sensitive BRCA1/2 mutation detection method based on pooled DGGE and targeted sequencing
25. BRCA1 and BRCA2 germline mutation analysis in the Indonesian population
26. High throughput analysis of gene amplification of 27 genes in invasive breast cancer by MLPA
27. High throughput analysis of promoter hypermethylation status of 22 tumour suppressor genes in invasive breast cancer
28. Apparent absence of BRCA2 protein in a proportion of acute myeloid leukemia cell lines
29. Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfan’s syndrome
30. A novel BRCA2 mutation in an Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing
31. Immunology
32. Genome-Wide Linkage in a Large Dutch Consanguineous Family Maps a Locus for Intracranial Aneurysms to Chromosome 2p13
33. Long-term sequelae of Helicobacter pylori gastritis
34. Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition
35. Ehlers–Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile
36. Seroconversion for Helicobacter pylori
37. Genetic linkage of candidate genes in families with abdominal aortic aneurysms?
38. Transcription Regulation of Human and Porcine Pepsinogen A
39. Type III Collagen Deficiency in Saccular Intracranial Aneurysms: Defect in Gene Regulation?
40. Flare-up after maxillofacial surgery in a patient with fibrodysplasia ossificans progressiva: An [18F]-NaF PET/CT study and a systematic review
41. Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum
42. Familial Abdominal Aortic Aneurysm: a Systematic Review of a Genetic Background
43. COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture
44. Absence of pepsinogen A3 gene expression in the gastric mucosa of patients with gastric cancer
45. Transdifferentiation of Human Dermal Fibroblasts into Smooth Muscle Like Cells: a Novel Method to Study the Effect of Pathogenic Variants in Aortic Aneurysms
46. The Role of Type III Collagen in Family Members of Patients with Abdominal Aortic Aneurysms
47. Mutation in the CCDC114 gene causes Primary Ciliary Dyskinesia with normal fertility in the isolated Volendam population
48. The Role of Type III Collagen in the Development of Familial Abdominal Aortic Aneurysms
49. Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
50. Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data
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