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metaphyseal dysplasia 相关文献:
GPX4 in cell death, autophagy, and disease.
Xie Y, Kang R, Klionsky DJ, Tang D.
Autophagy. 2023 Oct;19(10):2621-2638. doi: 10.1080/15548627.2023.2218764. Epub 2023 Jun 4.
PMID:37272058
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.
Hordyjewska-Kowalczyk E, Wuyts W, Boeckx N, Verdonck A, Hendrickx G, Mortier G.
Clin Genet. 2024 Apr;105(4):434-439. doi: 10.1111/cge.14474. Epub 2023 Dec 18.
PMID:38108099
Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V.
Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009.
PMID:18328979
Cranio-metaphyseal dysplasia.
Gupta D, Sharma OP, Chaudhary AK, Gupta SK.
Australas Radiol. 1993 Feb;37(1):122-5. doi: 10.1111/j.1440-1673.1993.tb00032.x.
PMID:8323501
Familial metaphyseal dysplasia?
Spranger J.
Lancet. 1970 Aug 29;2(7670):475. doi: 10.1016/s0140-6736(70)90102-9.
PMID:4195162
Schmid Metaphyseal Chondrodysplasia.
Richmond CM, Savarirayan R.
2019 Oct 21 [updated 2024 May 9]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:31633898
Pyle metaphyseal dysplasia.
Gupta N, Kabra M, Das CJ, Gupta AK.
Indian Pediatr. 2008 Apr;45(4):323-5.
PMID:18451455
Osteosclerotic metaphyseal dysplasia.
Nishimura G, Kozlowski K.
Pediatr Radiol. 1993;23(6):450-2. doi: 10.1007/BF02012448.
PMID:8255649
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM.
Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8.
PMID:36150098
Spondylo-metaphyseal dysplasia.
Galatius-Jensen F, Kozlowski K.
Aust Paediatr J. 1972 Dec;8(6):334-7. doi: 10.1111/j.1440-1754.1972.tb01848.x.
PMID:4197472
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