553 results on '"Gambin, Tomasz"'
Search Results
2. SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia
3. The impact of the Turkish population variome on the genomic architecture of rare disease traits
4. Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant
5. Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis
6. Postzygotic mutations and where to find them – Recent advances and future implications in the field of non-neoplastic somatic mosaicism
7. Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?
8. Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene
9. Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients
10. playOmics: A multi-omics pipeline for interpretable predictions and biomarker discovery
11. Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy
12. Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe
13. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
14. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
15. The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits
16. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
17. Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset
18. Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq
19. Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency
20. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
21. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
22. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
23. Diminished TMEM 100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report.
24. Genetyka medyczna i molekularna
25. Scalable Framework for the Analysis of Population Structure Using the Next Generation Sequencing Data
26. A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report
27. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
28. Comprehensive genomic analysis of patients with disorders of cerebral cortical development
29. Biallelic variants in KIF14 cause intellectual disability with microcephaly
30. Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome
31. SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia
32. Two male sibs with severe micrognathia and a missense variant in MED12
33. Rule-Based Algorithm Transforming OWL Ontology Into Relational Database
34. Social cognition, psychopathological symptoms, and family functioning in a sample of inpatient adolescents using variable-centered and person-centered approaches
35. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
36. Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance
37. Cloud-native distributed genomic pileup operations
38. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
39. Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development
40. High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV
41. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
42. Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
43. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
44. Transcriptome and Immunohistochemical Analyses in TBX4- and FGF10-Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development
45. Functional performance of aCGH design for clinical cytogenetics
46. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
47. Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation
48. The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies
49. Centers for Mendelian Genomics: A decade of facilitating gene discovery
50. Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung‐specific enhancer in trans to the frameshifting TBX4 variant
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