271 results on '"Yigit, Gökhan"'
Search Results
2. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
3. The Influence of L1 on the Acquisition of L2 Collocations: Turkish ELT Students
4. Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
5. The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
6. Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
7. A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease
8. Familial cleft tongue caused by a unique translation initiation codon variant in TP63
9. Biallelic variants in YRDC cause a developmental disorder with progeroid features
10. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
11. The challenges of research data management in cardiovascular science:a DGK and DZHK position paper—executive summary
12. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
13. Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
14. Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings
15. Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
16. Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
17. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
18. The challenges of research data management in cardiovascular science: a DGK and DZHK position paper—executive summary
19. Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity
20. Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy
21. HACE1 deficiency leads to structural and functional neurodevelopmental defects
22. Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
23. Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain
24. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
25. Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum
26. Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita
27. Molekulare Grundlagen der autosomal-rezessiven primären Mikrozephalie
28. WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly
29. Smith–Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism
30. Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome
31. Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures
32. Polyhydramnios, Transient Antenatal Bartterʼs Syndrome, and MAGED2 Mutations
33. A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation
34. Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer
35. Phenotypic distinctions of BLM- and RMI1-associated Bloom syndrome
36. Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
37. A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-disease
38. Genomic basis of syndromic short stature in an Algerian patient cohort
39. TRAIP regulates DNA double-strand break-induced ATM activation
40. Familial cleft tongue caused by a unique translation initiation codon variant in TP63
41. Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures
42. MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease
43. RNF43pathogenic Germline variant in a family with colorectal cancer
44. Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy
45. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
46. Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability
47. A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I
48. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
49. Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
50. Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
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