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1.
[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 234-238, 2024 Feb 10.
Article
in Zh
| MEDLINE | ID: mdl-38311566
2.
Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy.
J Clin Lab Anal
; 34(2): e23046, 2020 Feb.
Article
in English
| MEDLINE | ID: mdl-31556165
3.
[Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(4): 540-543, 2018 Aug 10.
Article
in Zh
| MEDLINE | ID: mdl-30098252
4.
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.
J Hum Genet
; 62(4): 513-516, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28077840
5.
Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.
J Genet Couns
; 26(1): 72-78, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27422779
6.
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.
BMC Med Genet
; 17(1): 77, 2016 Nov 08.
Article
in English
| MEDLINE | ID: mdl-27821076
7.
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
Am J Med Genet A
; 170(6): 1613-21, 2016 06.
Article
in English
| MEDLINE | ID: mdl-27028180
8.
Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).
Clin Chem
; 61(1): 172-81, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25376582
9.
Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
BMC Med Genomics
; 17(1): 135, 2024 May 21.
Article
in English
| MEDLINE | ID: mdl-38773466
10.
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.
Front Genet
; 14: 1246712, 2023.
Article
in English
| MEDLINE | ID: mdl-38174045
11.
Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.
Mol Genet Genomic Med
; 10(4): e1901, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35235708
12.
Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome.
Front Genet
; 13: 1056127, 2022.
Article
in English
| MEDLINE | ID: mdl-36506332
13.
Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature.
Front Cell Dev Biol
; 9: 661747, 2021.
Article
in English
| MEDLINE | ID: mdl-33937263
14.
Molecular investigation in Chinese patients with primary carnitine deficiency.
Mol Genet Genomic Med
; 7(9): e901, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31364285
15.
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.
Fam Cancer
; 16(3): 417-422, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28185117
16.
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
Clin Chim Acta
; 464: 24-29, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27983999
17.
A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.
Sci Rep
; 7: 44446, 2017 03 21.
Article
in English
| MEDLINE | ID: mdl-28322228
18.
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
Clin Chim Acta
; 453: 75-9, 2016 Jan 30.
Article
in English
| MEDLINE | ID: mdl-26656312
19.
Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.
Gene
; 569(2): 313-7, 2015 Sep 15.
Article
in English
| MEDLINE | ID: mdl-25936346
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