147 results on '"Rots, Dmitrijs"'
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2. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
3. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
4. National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia
5. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
6. Exploring disease-specific metabolite signatures in hereditary angioedema patients
7. Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
8. Ehmt2 Loss-of-function Alterations Cause a Kleefstra-like Syndrome
9. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
10. EHMT2 LOSS-OF-FUNCTION ALTERATIONS CAUSE A KLEEFSTRA-LIKE SYNDROME
11. Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview
12. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
13. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
14. P637: A newly derived DNA methylation signature for Koolen de Vries syndrome addresses the diagnostic challenges of the 17q21.31 locus
15. Association of in-vitro fertilization twin pregnancy with maternal and perinatal complications
16. Epidemiology and Clinical Course of Chronic Autoimmune Neuropathies During the SARS-CoV-2 Pandemic in Latvia
17. Plasma neurofilament light chain level is not a biomarker of Charcot–Marie–Tooth disease progression: Results of 3‐year follow‐up study
18. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
19. Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene
20. Clinical and genetic characterization of Netherton syndrome due toSPINK5founder variant in Latvian population
21. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1variants and comparison to fibroblast cells
22. Prevalence of polyneuropathies among systemic sclerosis patients and impact on health-related quality of life
23. Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk Factors
24. The most common European HINT1 neuropathy variant phenotype and its case studies
25. Long-Term Immunological Memory of SARS-CoV-2 Is Present in Patients with Primary Antibody Deficiencies for up to a Year after Vaccination
26. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
27. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
28. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
29. Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome
30. National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia
31. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
32. Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.
33. DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data
34. Kohlschütter–Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants
35. A Higher Polygenic Risk Score Is Associated with a Higher Recurrence Rate of Atrial Fibrillation in Direct Current Cardioversion-Treated Patients
36. A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
37. DeNovoCNN: A deep learning approach to de novo variant calling in next generation sequencing data
38. Clinical Phenotyping and Biomarkers in Kennedy Disease
39. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
40. Kohlschütter–Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.
41. Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy
42. Plasma neurofilament light chain as a potential biomarker in Charcot‐Marie‐Tooth disease
43. Association of in-vitro fertilization twin pregnancy with maternal and perinatal complications
44. Association of ARID5B Genetic Variants with Risk of Childhood B Cell Precursor Acute Lymphoblastic Leukaemia in Latvia
45. Genetic landscape of preterm birth due to cervical insufficiency: Comprehensive gene analysis and patient next-generation sequencing data interpretation
46. UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays
47. PREVALENCE OF OBSCN TRUNCATING VARIANTS IN LONE ATRIAL FIBRILLATION
48. Association Between 4q25 Variants, Risk of Atrial Fibrillation and Echocardiographic Parameters
49. The association of gene (CGG)n variation with idiopathic female infertility.
50. The association of FMR1 gene (CGG)n variation with idiopathic female infertility
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