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spondylometaphyseal dysplasia相关文献:
Spondylometaphyseal Dysplasia, Corner Fracture Type.
England J, McFarquhar A, Campeau PM.
2020 Mar 19. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:32200603
Sedaghatian spondylometaphyseal dysplasia in two siblings.
Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder AD, Cobben J, Kariholu U, Leitch HG.
Eur J Med Genet. 2022 Aug;65(8):104541. doi: 10.1016/j.ejmg.2022.104541. Epub 2022 Jun 16.
PMID:35718083
Spondylometaphyseal dysplasia-Sedaghatian type.
Elçioglu N, Hall CM.
Am J Med Genet. 1998 Apr 13;76(5):410-4.
PMID:9556300
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
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.
Faye E, Modaff P, Pauli R, Legare J.
Mol Syndromol. 2019 May;10(3):154-160. doi: 10.1159/000495778. Epub 2018 Dec 21.
PMID:31191204
Spondylometaphyseal dysplasia.
Le Quesne GW, Kozlowski K.
Br J Radiol. 1973 Sep;46(549):685-91. doi: 10.1259/0007-1285-46-549-685.
PMID:4199241
Spondylometaphyseal dysplasia.
Thomas PS, Nevin NC.
AJR Am J Roentgenol. 1977 Jan;128(1):89-93. doi: 10.2214/ajr.128.1.89.
PMID:401596
A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.
Cammarata-Scalisi F, Matysiak U, Willoughby CE, Ruzaike G, Cárdenas Tadich A, Araya Castillo M, Zara-Chirinos C, Bracho A, Avendaño A, Jilani H, Callea M.
J Pediatr Genet. 2021 Jul 26;12(4):339-341. doi: 10.1055/s-0041-1732474. eCollection 2023 Dec.
PMID:38162154
Axial spondylometaphyseal dysplasia.
Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G.
Eur J Pediatr. 1997 Aug;156(8):627-30. doi: 10.1007/s004310050679.
PMID:9266195
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley K, Barnicoat A, Offiah AC, Calder AD, Mankad K, Thomas NS, Bunyan DJ, Williams M, Buxton C, Majumdar A, Vijayakumar K, Hilliard T, Turner J, Burren CP, Monsell F, Smithson SF.
Am J Med Genet A. 2021 Apr;185(4):1228-1235. doi: 10.1002/ajmg.a.62072. Epub 2021 Jan 13.
PMID:33439541
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