223 results on '"Karaca, Ender"'
Search Results
2. The impact of the Turkish population variome on the genomic architecture of rare disease traits
3. DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism
4. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
5. Laboratory considerations for pharmacogenomic testing
6. Contributors
7. The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits
8. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
9. Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration
10. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
11. DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism
12. Genetic architecture of laterality defects revealed by whole exome sequencing
13. P691: Elevating pharmacogenomics: A tailored in-house solution for empowering accurate clinical decision support
14. Comprehensive genomic analysis of patients with disorders of cerebral cortical development
15. Association between Human Leukocyte Antigen E (HLA-E) Polymorphism, HLA-E Mismatch and Clinical Outcomes in Hematopoietic Cell Transplant for Acute Myeloid Leukemia and Myelodysplastic Syndrome
16. Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)
17. Human Leukocyte Antigen F (HLA-F) Mismatch Is Associated with Improved Relapse-Free Survival and Overall Survival in Matched Unrelated Donor (MUD) Transplant for Acute Myeloid Leukemia and Myelodysplastic Syndrome
18. P440: DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest an association with congenital anomalies and dysmorphism
19. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
20. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
21. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
22. Centers for Mendelian Genomics: A decade of facilitating gene discovery
23. eP347: Rare variants and complex genomic structure of CYP2D6 necessitate careful assessment and interpretation of haplotype and copy number data
24. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
25. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
26. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome
27. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI
28. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis
29. Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism
30. MP76-06 WHOLE-EXOME SEQUENCING IDENTIFIES NOVEL HOMOZYGOUS MUTATION IN NPAS2 IN FAMILY WITH NONOBSTRUCTIVE AZOOSPERMIA
31. Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome
32. MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients
33. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome
34. De novo mutation in ancestral generations evolves haplotypes contributing to disease
35. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity
36. 421 - Association between Human Leukocyte Antigen E (HLA-E) Polymorphism, HLA-E Mismatch and Clinical Outcomes in Hematopoietic Cell Transplant for Acute Myeloid Leukemia and Myelodysplastic Syndrome
37. 125 - Human Leukocyte Antigen F (HLA-F) Mismatch Is Associated with Improved Relapse-Free Survival and Overall Survival in Matched Unrelated Donor (MUD) Transplant for Acute Myeloid Leukemia and Myelodysplastic Syndrome
38. BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy
39. Functional modeling of NMIHBA-causingPRUNE1variants reveals a requirement for its exopolyphosphatase activity
40. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
41. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders
42. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
43. The Genomics Of Arthrogryposis, A Complex Trait: Candidate Genes And Further Evidence For Oligogenic Inheritance
44. Referee report. For: Case Report: a novel chromosomal insertion, 46, XY, inv ins(18;2)(q11.2;q13q22), in a patient with infertility and mild intellectual disability [version 1; peer review: 2 approved]
45. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
46. Erratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
47. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
48. Paralog Studies Augment Gene Discovery: DDX and DHX Genes
49. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
50. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
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