540 results on '"Nishimura, Gen"'
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2. Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients
3. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
4. Nosology of genetic skeletal disorders: 2023 revision.
5. Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
6. Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype(s)
7. ACAN biallelic variants in a girl with severe idiopathic short stature
8. Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
9. Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
10. Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.
11. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
12. Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II
13. Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities
14. The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins
15. Unique skeletal manifestations in patients with Primrose syndrome
16. Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation
17. Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome
18. Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling
19. Defining the clinical phenotype of Saul–Wilson syndrome
20. Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
21. A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate
22. De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation
23. Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
24. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination
25. A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease
26. Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
27. Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica
28. Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
29. Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism
30. Normal early development in siblings with novel compound heterozygous variants in ASPM
31. Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.
32. Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification
33. Dysosteosclerosis is also caused by TNFRSF11A mutation
34. Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis
35. Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis
36. A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay
37. Nosology of genetic skeletal disorders: 2023 revision
38. Identification of a novel LFNGvariant in a Chinese fetus with spondylocostal dysostosis and a systematic review
39. A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
40. New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report
41. A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay
42. Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
43. A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
44. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
45. Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
46. Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia
47. Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2
48. Molecular Basis for Hypochondroplasia in Japan
49. Identification of Disease Gene for Camurati-Engelmann Disease, Type II
50. Clinical and radiological findings in Pallister–Killian syndrome
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