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149 results on '"Sleiman, Patrick M."'

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1. European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation

6. Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness

8. Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups

9. Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

13. ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

15. Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

17. The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

18. Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

19. Trans‐ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study.

20. Phenome-wide association studies across large population cohorts support drug target validation

22. Strong synaptic transmission impact by copy number variations in schizophrenia

23. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

24. Trans‐ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study.

26. Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.

28. COVID-19 in pediatrics: Genetic susceptibility.

29. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

30. Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration

31. Common genetic variants on 5p14.1 associate with autism spectrum disorders

32. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

34. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.

35. Saudi Arabian CML patient with a novel four‐way translocation at t(9;22;5;2)(q34;q11.2;p13;q44).

39. Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB gene.

40. The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinsonʼs disease

41. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

42. HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions.

43. DeepCNV: a deep learning approach for authenticating copy number variations.

44. Association of novel rare coding variants with juvenile idiopathic arthritis.

46. Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma.

47. Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios.

48. Drug‐resistant epilepsy classified by a phenotyping algorithm associates with NTRK2.

49. A common LRRK2 mutation in idiopathic Parkinson's disease

50. Common variants at 5q33.1 predispose to migraine in African-American children.

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