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congenital single limb deficiency相关文献:
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K.
Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056.
PMID:38456468
Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).
Evans JA, Vitez M, Czeizel A.
Am J Med Genet. 1994 Jan 1;49(1):52-66. doi: 10.1002/ajmg.1320490111.
PMID:8172251
Case report: Single-session double-Ilizarov lengthening technique in the treatment of a child with congenital fibular deficiency.
Shu W, Yue C, Zhong H, Tang X.
Front Pediatr. 2022 Jul 29;10:952591. doi: 10.3389/fped.2022.952591. eCollection 2022.
PMID:35967573
Outcome After Pollicization for Congenital Thumb Deficiency: A Cohort Study of Cases in a Single Unit, 1987 to 2016.
Sletten IN, Røkkum M, Winge MI.
J Hand Surg Am. 2022 May;47(5):479.e1-479.e9. doi: 10.1016/j.jhsa.2021.05.023. Epub 2021 Jul 15.
PMID:34274210
NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.
Mark PR.
Am J Med Genet A. 2022 Sep;188(9):2834-2849. doi: 10.1002/ajmg.a.62764. Epub 2022 Apr 29.
PMID:35484986
Advancing pediatric cycling: A 3D-printed adaptive device for congenital upper limb deficiency-case report.
Thomas A, Bulluck J, Diaz P, Hernandez S, Hencely A, Monnier C, Monzon A, Santovenia N, Shood A, Muñecas T, Butler L.
J Hand Ther. 2026 Jan 6:S0894-1130(25)00185-1. doi: 10.1016/j.jht.2025.10.001. Online ahead of print.
PMID:41500920
"Idiopathic" scoliosis associated with congenital upper-limb deficiency.
Lester DK, Painter GL, Berman AT, Skinner SR.
Clin Orthop Relat Res. 1986 Jan;(202):205-10.
PMID:3955950
Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia.
Ordal L, Keunen J, Martin N, Shehata N, Borschel GH, Clarke HM, Toi A, Shuman C, Chitayat D.
Am J Med Genet A. 2016 Dec;170(12):3083-3089. doi: 10.1002/ajmg.a.37890. Epub 2016 Aug 17.
PMID:27530094
Congenital tibial deficiency: a 37-year experience at 1 institution.
Clinton R, Birch JG.
J Pediatr Orthop. 2015 Jun;35(4):385-90. doi: 10.1097/BPO.0000000000000280.
PMID:25122078
Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption.
Strasser AS, Gonzalez-Reiche AS, Zhou X, Valdebenito-Maturana B, Ye X, Zhang B, Wu M, van Bakel H, Jabs EW.
Nat Commun. 2024 Aug 21;15(1):7154. doi: 10.1038/s41467-024-51328-3.
PMID:39168984
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