219 results on '"Seixas, Susana"'
Search Results
2. The Peopling of Sao Tome (Gulf of Guinea): Origins of Slave Settlers and Admixture with the Portuguese
3. Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility
4. Alpha-1 antitrypsin deficiency in Madeira Island: The first null variant and the contribution of deficient genotypes
5. Changes in environmental exposures over decades may influence the genetic architecture of severe spermatogenic failure
6. Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
7. Comparative analysis of the bronchoalveolar microbiome in Portuguese patients with different chronic lung disorders
8. Common coding variant in SERPINA1 increases the risk for large artery stroke
9. GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution
10. The Human SERPIN Repertoire and the Evolution of 14q32.1 and 18q21.3 Gene Clusters
11. Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal
12. Profiling of lung microbiota discloses differences in adenocarcinoma and squamous cell carcinoma
13. The Mutational Spectrum of WT1 in Male Infertility
14. Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia
15. Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility
16. E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancer
17. Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management
18. A de novo paradigm for male infertility
19. The CDH1 c.1901C>
20. Genetic Variation in a Compound Short Tandem Repeat/Alu Haplotype System at the SB19.3 Locus: Properties and Interpretation
21. Influence of Apolipoprotein E Polymorphism on Cardiovascular Risk Factors in Obese Children
22. External quality assessment (EQA) for laboratory diagnosis of alpha1-antitrypsin deficiency (AATD) – Program driven by the European Alpha-1-Research Collaboration (EARCO) network
23. The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing
24. Haplotype Analysis of the Apolipoprotein E and Apolipoprotein C1 Loci in Portugal and São Tomé e Príncipe (Gulf of Guinea): Linkage Disequilibrium Evidence That APOE*4 Is the Ancestral APOE Allele
25. Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum
26. Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure
27. Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies
28. Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review
29. A model to infer the pathogenic significance of CDH1 germline missense variants
30. O processador de texto Word como ferramenta de ensino para alunos com dislexia
31. Comportamento adaptativo: Impacto de um programa dirigido a alunos do 3º Ciclo com perturbações do desenvolvimento
32. Microsatellite variation and evolution of human lactase persistence
33. Is the Proteome of Bronchoalveolar Lavage Extracellular Vesicles a Marker of Advanced Lung Cancer?
34. Reproduction and Immunity-Driven Natural Selection in the Human WFDC Locus
35. Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the α1-antitrypsin polymorphism
36. Differing Evolutionary Histories of WFDC8 (Short-Term Balancing) in Europeans and SPINT4 (Incomplete Selective Sweep) in Africans
37. Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
38. Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
39. Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer
40. Evaluation of the potential association of SOHLH2 polymorphisms with non-obstructive azoospermia susceptibility in a large European population
41. Sequence Diversity at the Proximal 14q32.1 SERPIN Subcluster: Evidence for Natural Selection Favoring the Pseudogenization of SERPINA2
42. Lobar Brain Hemorrhages and White Matter Changes: Clinical, Radiological and Laboratorial Profiles
43. Association between the defective Pro369Ser mutation and in vivo intrahepatic α1-antitrypsin accumulation
44. Additional file 1: of E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancer
45. Referee report. For: FUT2 secretor genotype and susceptibility to infections and chronic conditions in the ALSPAC cohort [version 1; referees: 2 approved with reservations]
46. Pulmonary Emphysema in a Child With Alpha-1 Antitrypsin Deficiency: Evaluation of 2 Years of Intravenous Augmentation Therapy
47. Microbiota profile of Non-small Cell Lung Cancer (NSCLC): the study of a large cohort
48. Genes from the TAS1R and TAS2R Families of Taste Receptors: Looking for Signatures of Their Adaptive Role in Human Evolution
49. Characterization of microbiota in male infertility cases uncovers differences in seminal hyperviscosity and oligoasthenoteratozoospermia possibly correlated with increased prevalence of infectious bacteria
50. Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population
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