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1.
Characterization of a wheat stable QTL for spike length and its genetic effects on yield-related traits.
BMC Plant Biol;
24(1): 292, 2024 Apr 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38632554
2.
Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities.
Prenat Diagn;
42(1): 136-140, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34816459
3.
[Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
38(7): 674-677, 2021 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34247376
4.
Development of a community-based hearing loss prevention and control service model in Guangdong, China.
BMC Public Health;
19(1): 1601, 2019 Nov 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-31783833
5.
Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness - a case report for dual diagnosis.
BMC Pediatr;
19(1): 364, 2019 10 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-31638924
6.
[Gene diagnosis for a child with tuberous sclerosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
31(6): 770-3, 2014 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-25449086
7.
The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.
BMC Med Genet;
14: 57, 2013 May 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-23718755
8.
Rare inborn errors associated with chronic hepatitis B virus infection.
Hepatology;
56(5): 1661-70, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22610944
9.
Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios.
Ann Med;
55(1): 2215539, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37243546
10.
When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes.
Front Genet;
14: 1227724, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37600658
11.
A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree.
BMC Med Genomics;
16(1): 114, 2023 05 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37221554
12.
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Front Genet;
14: 1032346, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36923788
13.
A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.
J Med Genet;
48(5): 312-6, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21357617
14.
Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.
Front Genet;
13: 821587, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35360849
15.
A Retrospective Cohort Analysis of the Genetic Assay Results of Foetuses with Isolated and Nonisolated Umbilical Cord Cyst.
Int J Gen Med;
15: 5775-5784, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35770052
16.
Paternal De Novo Variant of TAOK1 in a Fetus With Structural Brain Abnormalities.
Front Genet;
13: 836853, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35928450
17.
A spectrum of clinical severity of recessive titinopathies in prenatal.
Front Genet;
13: 1064474, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36761691
18.
A novel non-sense variant in the OFD1 gene caused Joubert syndrome.
Front Genet;
13: 1064762, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36704348
19.
Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.
Int J Pediatr Otorhinolaryngol;
161: 111258, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-35939872
20.
Phelan-McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses.
Front Pediatr;
10: 888001, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36081626