327 results on '"Laissue, Paul"'
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2. ¿Cuál es el costo evolutivo de sobrevivir una pandemia?/What is the evolutionary cost of surviving a pandemic?
3. Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencing
4. Molecular Mechanisms of Trophoblast Dysfunction Mediated by Imbalance between STOX1 Isoforms
5. DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation
6. Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches
7. Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis
8. The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing
9. ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure
10. Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
11. Exploring the Molecular Aetiology of Preeclampsia by Massive Parallel Sequencing of DNA
12. The forkhead-box family of transcription factors: key molecular players in colorectal cancer pathogenesis
13. The multisystemic functions of FOXD1 in development and disease
14. FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia
15. Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population
16. Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease
17. BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure
18. BMP15 Mutations Associated With Primary Ovarian Insufficiency Reduce Expression, Activity, or Synergy With GDF9
19. Abstract P3-07-05: Genetic profile of germline mutations in unselected women with breast cancer in a Colombian population
20. A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics
21. Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies
22. Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder
23. A Pharmacogenetic Study of CYP2C19 in Acute Coronary Syndrome Patients of Colombian Origin Reveals New Polymorphisms Potentially Related to Clopidogrel Therapy
24. Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype
25. Interspecific resources: a major tool for quantitative trait locus cloning and speciation research
26. Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype
27. A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions
28. A pharmacogenomic dissection of a Rosuvastatin-induced rhabdomyolysis case evokes the polygenic nature of adverse drug reactions
29. Centimorgan-range one-step mapping of fertility traits using interspecific recombinant congenic mice
30. Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease
31. CITED2 mutations potentially cause idiopathic premature ovarian failure
32. Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
33. A De Novo 14q12q13.3 Interstitial Deletion in a Patient Affected by a Severe Neurodevelopmental Disorder of Unknown Origin
34. Protocol of Whole-exome sequencing in patients affected by Stevens-Johnson syndrome and toxic epidermal necrolysis. v1
35. Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy
36. BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency
37. BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?
38. Interspecific resources: a major tool for quantitative trait locus cloning and speciation research
39. A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure
40. Differential Functional Effects of Novel Mutations of the Transcription Factor FOXL2 in BPES Patients
41. Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism
42. Additional file 1: of FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia
43. The forkhead-box family of transcription factors: Key molecular players in colorectal cancer pathogenesis 06 Biological Sciences 0604 Genetics 11 Medical and Health Sciences 1112 Oncology and Carcinogenesis 06 Biological Sciences 0601 Biochemistry and Cell Biology
44. Additional file 2: of FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia
45. Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure
46. Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita
47. Aproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia
48. Undertreatment Strongly Decreases Prognosis of Breast Cancer in Elderly Women
49. Las moléculas dan pistas a investigadores del Rosario para combatir enfermedades
50. First identification of bone morphogenic protein receptor variants as a cause of primary ovarian insufficiency
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