355 results on '"Jhangiani, Shalini N"'
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2. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
3. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
4. The impact of the Turkish population variome on the genomic architecture of rare disease traits
5. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
6. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
7. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
8. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
9. IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease
10. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
11. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
12. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
13. PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
14. Human NK cell deficiency as a result of biallelic mutations in MCM10
15. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
16. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
17. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
18. Insights into genetics, human biology and disease gleaned from family based genomic studies
19. Genetic architecture of laterality defects revealed by whole exome sequencing
20. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
21. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
22. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
23. A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy
24. Comprehensive genomic analysis of patients with disorders of cerebral cortical development
25. Biallelic variants in KIF14 cause intellectual disability with microcephaly
26. Two male sibs with severe micrognathia and a missense variant in MED12
27. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
28. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
29. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits.
30. Biallelic mutations in IRF8 impair human NK cell maturation and function
31. The sheep genome illuminates biology of the rumen and lipid metabolism
32. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
33. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
34. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
35. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
36. Epistasis dominates the genetic architecture of Drosophila quantitative traits
37. Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma
38. 2C DNA CONTENT VALUES IN AMARANTHUS (AMARANTHACEAE)
39. Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy
40. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses
41. Hemichordate genomes and deuterostome origins
42. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome
43. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI
44. Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism
45. FBN1 contributing to familial congenital diaphragmatic hernia
46. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform
47. Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome
48. The Drosophila melanogaster Genetic Reference Panel
49. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome
50. Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation
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