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1. The impact of the Turkish population variome on the genomic architecture of rare disease traits

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

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

4. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

5. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

6. Centers for Mendelian Genomics: A decade of facilitating gene discovery

7. Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms

8. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

9. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

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

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

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

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

14. Exome variant discrepancies due to reference-genome differences

15. Back Cover, Volume 43, Issue 7

16. Two novel bi‐allelic <scp> KDELR2 </scp> missense variants cause osteogenesis imperfecta with neurodevelopmental features

17. A novel homozygous <scp> SLC13A5 </scp> whole‐gene deletion generated by <scp> Alu/Alu </scp> ‐mediated rearrangement in an Iraqi family with epileptic encephalopathy

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

19. Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

20. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

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

22. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome

23. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome

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

25. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

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

27. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

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

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

30. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

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

32. Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

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

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

35. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

36. Principles for the regulation of multiple developmental pathways by a versatile transcriptional factor, BLIMP1

37. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

38. Transient ischemic attack-like episodes without stroke-like lesions in MELAS

39. [An 8-year-old boy with anti-NMDA receptor encephalitis, successfully treated with cyclophosphamide]

41. Acute hemicerebellitis in a pediatric patient: a case report of a serial MR spectroscopy study

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