102 results on '"Schaeffer, Alejandro A."'
Search Results
2. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
3. Clinically oriented prediction of patient response to targeted and immunotherapies from the tumor transcriptome
4. Elapsed time since BNT162b2 vaccine and risk of SARS-CoV-2 infection : test negative design study
5. High Levels of Chromosomal Copy Number Alterations and TP53 Mutations Correlate with Poor Outcome in Younger Breast Cancer Patients
6. Tumor Copy Number Deconvolution Integrating Bulk and Single-Cell Sequencing Data
7. Beyond Synthetic Lethality: Charting the Landscape of Pairwise Gene Expression States Associated with Survival in Cancer
8. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
9. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
10. Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)
11. Chromosomal Alterations and Gene Expression Changes Associated with the Progression of Leukoplakia to Advanced Gingivobuccal Cancer
12. P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
13. Mapping Genes in Isolated Populations: Lessons from the Old Order Amish
14. Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency
15. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
16. A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase
17. Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both
18. Single-Cell Genetic Analysis Reveals Insights into Clonal Development of Prostate Cancers and Indicates Loss of PTEN as a Marker of Poor Prognosis
19. Inherited biallelic CSF3Rmutations in severe congenital neutropenia
20. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels
21. Animal Models of Human Granulocyte Diseases
22. Single-Cell Genetic Analysis of Ductal Carcinoma in Situ and Invasive Breast Cancer Reveals Enormous Tumor Heterogeneity yet Conserved Genomic Imbalances and Gain of MYC during Progression
23. Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity
24. The phenotype of human STK4 deficiency
25. Coordinated Conditional Simulation with SLINK and SUP of Many Markers Linked or Associated to a Trait in Large Pedigrees
26. PSEUDOMARKER : A Powerful Program for Joint Linkage and/or Linkage Disequilibrium Analysis on Mixtures of Singletons and Related Individuals
27. Approximation algorithms for a genetic diagnostics problem
28. Investigations of the Y Chromosome, Male Founder Structure and YSTR Mutation Rates in the Old Order Amish
29. The Chromatin-binding Protein HMGN1 Regulates the Expression of Methyl CpG-binding Protein 2 (MECP2) and Affects the Behavior of Mice
30. Making the shortest-paths approach to sum-of-pairs multiple sequence alignment more space efficient in practice : Extended abstract
31. Multiple matching of parameterized patterns
32. Dynamic dictionary matching with failure functions : Extended abstract
33. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
34. Towards a Complete North American Anabaptist Genealogy II: Analysis of Inbreeding
35. Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
36. An autosomal genetic linkage map of the domestic cat, Felis silvestris catus
37. A high-resolution cat radiation hybrid and integrated FISH mapping resource for phylogenomic studies across Felidae
38. Fluorescence in Situ Hybridization Markers for Prediction of Cervical Lymph Node Metastases
39. Automatic Selection of Loop Breakers for Genetic Linkage Analysis
40. Linkage Analyses in Type I Diabetes mellitus Using CASPAR, a Software and Statistical Program for Conditional Analysis of Polygenic Diseases
41. Automated Selection of Short Tandem Repeat Polymorphism Markers for Whole Genome Screening for Segmental Aneusomy
42. Faster Linkage Analysis Computations for Pedigrees with Loops or Unused Alleles
43. Deconstructing common variable immunodeficiency by genetic analysis
44. A 1.5-Mb-resolution radiation hybrid map of the cat genome and comparative analysis with the canine and human genomes
45. High-resolution gene maps of horse chromosomes 14 and 21: Additional insights into evolution and rearrangements of HSA5 homologs in mammals
46. A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat
47. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2
48. HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia)
49. Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo
50. A rhesus macaque radiation hybrid map and comparative analysis with the human genome
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