1,705 results on '"Nishimura, Gen"'
Search Results
2. Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review
3. Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients
4. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
5. Dyssegmental Dysplasia, HSPG2-Related
6. Catel-Manzke Syndrome, TGDS-Related
7. Apert Syndrome, FGFR2-Related
8. Otospondylomegaepiphyseal Dysplasia, Recessive and Dominant Types, COL11A2-Related
9. Melnick-Needles Syndrome (Osteodysplasty), FLNA-Related
10. Chondrodysplasia Punctata Tibia-Metacarpal Type
11. Stüve-Wiedemann Dysplasia, LFR-Related
12. Short Rib-Polydactyly Syndrome Type 2 (Majewski), NEK1-, DYNC2H1-, IFT81- and IFT154-Related
13. Thoracolaryngopelvic Dysplasia (Barnes)
14. Menkes Disease, ATP7A-Related
15. Meckel Syndrome, TMRM67-, CEP290-, RPGRIP1L-, CC2D2A MKS1-, TMEM216-, NPHP3-, TCTN2-, B9D1-, B9D2-, TMEM231-, KIF14-, TMEM107- and TXNDC15-Related
16. DK Phocomelia
17. Kniest Dysplasia, COL2A1-Related
18. Achondrogenesis Type 2/Hypochondrogenesis, COL2A1-Related
19. Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
20. Dysplastic Cortical Hyperostosis, Al-Gazali Type, ADAMTSL2-Related
21. Brachydactyly Type C, GDF5-Related
22. Fibrochondrogenesis, COL11A1- and COL11A2-Related
23. Achondrogenesis (Type 1B), SLC26A2-Related
24. Schneckenbecken Dysplasia, SLC35D1-Related
25. Cousin Syndrome, TBX15-Related
26. Bruck Syndrome, FKBP10- and PLOD2-Related
27. Kaufman-McKusick Syndrome, MKKS-Related
28. Astley-Kendall Dysplasia
29. Uniparental Disomy, Paternal, for Chromosome 14 (UPD14; Kagami-Ogata Syndrome)
30. Diaphanospondylodysostosis, BMPER-Related
31. Rubinstein-Taybi Syndrome, CREBBP- and EP300-Related
32. Limb Reduction Syndrome (Al-Awadi Raas-Rothschild Limb-Pelvis Hypoplasia-Aplasia), WNT7A-Related
33. Blomstrand Dysplasia, PTHR1-Related
34. 3M Syndrome, CUL7-, OBSL1- and CCDC9-Related
35. Atelosteogenesis Type 3, FLNB-Related
36. Warfarin Embryopathy
37. OEIS Complex
38. Caffey Disease (Including Infantile and Attenuated Forms), COL1A1-Related
39. Dysosteosclerosis, SLC29A3-, TNFRSF11A- and CSF1R-Related
40. Yunis-Varon Dysplasia, FIG4- and VAC14-Related
41. Mesomelic Dysplasia, Kozlowski-Reardon Type
42. Saul-Wilson Syndrome, COG4-Related
43. Femoral Facial Syndrome
44. Stickler Syndrome, COL2A1-Related
45. Achondroplasia, FGFR3-Related
46. Cranioectodermal Dysplasia (Levin-Sensenbrenner), IFTI22-, WDR35-, WDR19-, IFT40- and IFT43-Related
47. Short Rib-Polydactyly Syndrome Type 1 and 3, IFT80-, DYNC2H1-, WDR34-, WDR60- and DYNC2L11-Related
48. Metaphyseal Dysplasia, Jansen Type, PTHR1-Related
49. Short Rib-Polydactyly Syndrome Type 4 (Beemer), IFT80-Related
50. Mirror-Image Polydactyly of Hands and Feet (Laurin-Sandrow), SHH-Related
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