Detalles de la búsqueda
1.
De novo variants in KCNJ3 are associated with early-onset epilepsy.
J Med Genet
; 61(4): 319-324, 2024 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37963718
2.
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.
J Hum Genet
; 69(5): 197-203, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38374166
3.
[Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 209-214, 2024 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-38311561
4.
[Clinical characteristics of children on prolonged mechanical ventilation due to different primary diseases]. / ä¸åååç 导è´é¿ææºæ¢°éæ°æ£å¿ç临åºç¹å¾åæ.
Zhongguo Dang Dai Er Ke Za Zhi
; 26(5): 481-485, 2024 May 15.
Artículo
en Zh
| MEDLINE | ID: mdl-38802908
5.
Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.
BMC Pediatr
; 23(1): 616, 2023 12 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38053031
6.
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(9): 1086-1092, 2023 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37643953
7.
[Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1521-1525, 2023 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37994135
8.
[Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(10): 1280-1283, 2023 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37730231
9.
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.
Neurol Sci
; 43(7): 4439-4451, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-35217970
10.
[Clinical characteristics and genetic analysis of a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to compound heterozygous variants of RRM2B gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(1): 26-30, 2022 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34964961
11.
[Clinical and genetic analysis of two rare male patients with Rett syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(5): 488-493, 2022 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35598263
12.
[Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(3): 219-223, 2021 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33751528
13.
[Phenotypic and genetic analysis of a boy with a 10p15.3 deletion and partial trisomy 18p syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 785-788, 2020 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32619265
14.
[Genetic screening and prenatal diagnosis in 18 high-risk families with 21-hydroxylase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(2): 103-107, 2019 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30703223
15.
[Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(8): 789-793, 2019 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31400129
16.
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.
BMC Med Genet
; 19(1): 154, 2018 08 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-30157807
17.
Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation.
Gynecol Endocrinol
; 34(10): 900-904, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-29671363
18.
[Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(4): 471-474, 2018 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30098236
19.
[Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(1): 78-80, 2018 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29419866
20.
[Genetic and prenatal diagnosis of a retinitis pigmentosa pedigree].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(2): 184-187, 2018 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29652988