349 results on '"Kaya, Namik"'
Search Results
2. Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population
3. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
4. The phenotypic spectrum of PTCD3 deficiency.
5. The phenotypic spectrum of PTCD3 deficiency
6. Influence of b2 adrenergic receptor polymorphism (rs1042713 and rs1042714) on anthropometric, hormonal and lipid profiles in polycystic ovarian syndrome
7. Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy
8. Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
9. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
10. Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
11. Expression, Physiological Action, and Coexpression Patterns of Neuropeptide Y in Rat Taste-Bud Cells
12. Polymorphic variations in VDR gene in Saudi women with and without polycystic ovary syndrome (PCOS) and significant influence of seven polymorphic sites on anthropometric and hormonal parameters
13. Novel UBE3Bmutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population
14. Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)
15. A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature
16. Hereditary Disorders and Human Mutations of Iron-Sulfur Assembly Genes
17. First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
18. Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature
19. A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome
20. Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome
21. Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1
22. Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and Pathways
23. A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families
24. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
25. Molecular and clinical spectra of FBXL4 deficiency
26. Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome
27. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
28. Genetic Causes, Clinical Manifestations and Diagnosis of Central Nervous System Malformations with Emphasis on Corpus Callosum
29. Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
30. A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts
31. Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies
32. Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
33. Identification of Gene Signature as Diagnostic and Prognostic Blood Biomarker for Early Hepatocellular Carcinoma Using Integrated Cross-Species Transcriptomic and Network Analyses
34. Genetics of ataxia telangiectasia in a highly consanguineous population
35. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
36. Clinical and biochemical features associated with BCS1L mutation
37. Induction of cell proliferation in old rat liver can reset certain gene expression levels characteristic of old liver to those associated with young liver
38. Gene expression profiling of granulosa cells from PCOS patients following varying doses of human chorionic gonadotropin
39. Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
40. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
41. Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
42. ICF Syndrome in Saudi Arabia: Immunological, Cytogenetic and Molecular Analysis
43. Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia
44. METTL23, a transcriptional partner of GABPA, is essential for human cognition
45. Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly
46. SLC25A42 ‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion
47. Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype
48. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
49. Breast stromal fibroblasts from histologically normal surgical margins are pro-carcinogenic
50. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.