首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
chondrodysplasia punctata相关文献:
Brachytelephalangic chondrodysplasia punctata.
Bieganski T, Kozlowski K.
Australas Radiol. 1998 Aug;42(3):244-5. doi: 10.1111/j.1440-1673.1998.tb00506.x.
PMID:9727255
Chondrodysplasia punctata (Conradi disease).
O'Brien TJ.
Int J Dermatol. 1990 Sep;29(7):472-6. doi: 10.1111/j.1365-4362.1990.tb04835.x.
PMID:2228371
Chondrodysplasia punctata: a clinical diagnostic and radiological review.
Irving MD, Chitty LS, Mansour S, Hall CM.
Clin Dysmorphol. 2008 Oct;17(4):229-41. doi: 10.1097/MCD.0b013e3282fdcc70.
PMID:18978650
[Chondrodysplasia punctata].
Hikino S.
Ryoikibetsu Shokogun Shirizu. 2001;(33):370-1.
PMID:11462480
Chondrodysplasia punctata.
Swoboda W.
J Pediatr. 1977 Nov;91(5):852. doi: 10.1016/s0022-3476(77)81068-8.
PMID:909034
Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R.
Spine (Phila Pa 1976). 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007.
PMID:12634559
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
İli EG, Gezdirici A, Di Pietro E, Yergeau C, Braverman N.
Am J Med Genet A. 2022 Nov;188(11):3229-3235. doi: 10.1002/ajmg.a.62959. Epub 2022 Aug 20.
PMID:35986576
Chondrodysplasia punctata: case report and review of audiological and ENT features.
Murdin L, Sirimanna T, Hartley BE, Holder SE.
J Laryngol Otol. 2006 Mar;120(3):233-6. doi: 10.1017/S002221510500472X. Epub 2005 Nov 25.
PMID:16359148
A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
Zhou L, Peng Y, Chen J, Xi H, Wang S, Kang G, Tang W, Xie W.
BMC Med Genomics. 2024 Oct 18;17(1):253. doi: 10.1186/s12920-024-02029-9.
PMID:39425194
Chondrodysplasia punctata: case report and literature review of patients with heart lesions.
Fourie DT.
Pediatr Cardiol. 1995 Sep-Oct;16(5):247-50. doi: 10.1007/BF00795717.
PMID:8524712
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3