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1.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Am J Hum Genet
; 108(2): 337-345, 2021 02 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33434492
2.
Putative regulators for the continuum of erythroid differentiation revealed by single-cell transcriptome of human BM and UCB cells.
Proc Natl Acad Sci U S A
; 117(23): 12868-12876, 2020 06 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32457162
3.
Polyethylene glycol recombinant human growth hormone in Chinese prepubertal slow-growing short children: doses reported in a multicenter real-world study.
BMC Endocr Disord
; 22(1): 201, 2022 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35945517
4.
Construction of a new complete growth reference for urban Chinese children.
BMC Public Health
; 22(1): 2345, 2022 12 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36517789
5.
[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
6.
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
J Med Genet
; 56(10): 685-692, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31186340
7.
Final adult height of children with idiopathic short stature: a multicenter study on GH therapy alone started during peri-puberty.
BMC Pediatr
; 20(1): 138, 2020 03 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-32222149
8.
High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor.
J Paediatr Child Health
; 56(10): 1590-1596, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32767607
9.
LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.
Hum Mutat
; 40(12): 2221-2229, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31286593
10.
Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.
Am J Med Genet C Semin Med Genet
; 181(2): 218-225, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30893510
11.
U-shaped relationship between birth weight and childhood blood pressure in China.
BMC Pediatr
; 19(1): 264, 2019 07 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-31362719
12.
Further defining the critical genes for the 4q21 microdeletion disorder.
Am J Med Genet A
; 173(1): 120-125, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27604828
13.
[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
14.
[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
15.
[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
16.
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
17.
Hb H Hydrops Fetalis Syndrome Caused by Association of the - -(SEA) Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese Family.
Hemoglobin
; 39(3): 216-9, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25897478
18.
First Detection of a Splice Acceptor Site ß-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese Patient.
Hemoglobin
; 39(4): 290-1, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26182339
19.
[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
20.
[Analysis of chromosomal abnormalities and a report of eight new karyotypes among children in genetic counseling].
Zhongguo Dang Dai Er Ke Za Zhi
; 16(7): 725-8, 2014 Jul.
Artículo
en Zh
| MEDLINE | ID: mdl-25008881