Detalles de la búsqueda
1.
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Brain
; 146(8): 3347-3363, 2023 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36869767
2.
Phenotypic Spectrum of Trisomy 18 Mosaicism: a New Patient and Literature Review.
Clin Lab
; 69(3)2023 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36912299
3.
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
Hum Mutat
; 43(5): 568-581, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35143101
4.
[Comparison of performance of two prenatal diagnostic techniques for the detection of chromosomal mosaicisms in amniocytes].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(8): 842-847, 2022 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35929933
5.
Characteristics of amino acid metabolism in preterm infants in Guangxi, China. / 广西å°åºæ©äº§å¿æ°¨åºé ¸ä»£è°¢ç¹ç¹ç 究.
Zhongguo Dang Dai Er Ke Za Zhi
; 24(2): 162-168, 2022 Feb 15.
Artículo
en Inglés, Zh
| MEDLINE | ID: mdl-35209981
6.
CNV profiles of Chinese pediatric patients with developmental disorders.
Genet Med
; 23(4): 669-678, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33402738
7.
[Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(11): 1051-1054, 2021 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34729741
8.
[Analysis of genetic variants in four children with congenital hyperinsulinemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(7): 635-638, 2021 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34247366
9.
Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
BMC Med Genet
; 21(1): 72, 2020 04 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32252659
10.
Pretreatment with Ochrobactrum immobilizes chromium and copper during sludge pyrolysis.
Ecotoxicol Environ Saf
; 199: 110755, 2020 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-32446099
11.
[Application of SNP-array technology in the genetic analysis of pediatric patients with growth retardation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(3): 321-326, 2017 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28604947
12.
[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(2): 135-9, 2016 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-27060300
13.
[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(5): 657-61, 2016 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-27577216
14.
EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.
BMC Med Genet
; 16: 23, 2015 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-25928000
15.
[Prevalence of hypertension and relationship between hypertension and obesity in children and adolescents in Nanning of Guangxi Province].
Zhongguo Dang Dai Er Ke Za Zhi
; 16(10): 1040-4, 2014 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-25344188
16.
A novel variant in NSUN2 causes intellectual disability in a Chinese family.
BMC Med Genomics
; 17(1): 95, 2024 Apr 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-38643142
17.
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.
Heliyon
; 10(1): e23257, 2024 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38163131
18.
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.
BMC Med Genomics
; 17(1): 44, 2024 Jan 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-38297306
19.
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.
Mol Genet Genomic Med
; 12(2): e2408, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38404251
20.
Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2.
Front Neurol
; 15: 1340458, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38356881