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1. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

2. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

3. Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32.

4. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.

5. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.

6. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

7. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.

8. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.

9. Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.

10. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

11. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.

12. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.

13. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

14. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.

15. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

16. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.

17. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.

18. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.

20. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

21. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.

22. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.

23. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

24. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.

25. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

26. Risk of sudden cardiac death in EXOSC5-related disease.

27. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.

28. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.

29. Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.

30. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.

31. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

32. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

33. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

34. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

35. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

36. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.

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