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1.
[Genetic analysis of a child with Complex cortical dysplasia with other brain malformations type 6 due to a p.M73V variant of TUBB gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1541-1545, 2023 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37994139
2.
Low Expression of LEFTY1 in Placental Villi Is Associated with Early Unexplained Miscarriage.
J Reprod Med
; 62(5-6): 305-10, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-30027725
3.
[Phenotypic and genetic analysis of a child featuring multiple malformations due to copy number variation on chromosome 5].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 31(1): 56-9, 2014 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-24510564
4.
Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.
Mol Genet Genomic Med
; 12(1): e2326, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38014478
5.
Correlation of TGF-ß signaling pathway gene polymorphisms with unexplained recurrent spontaneous abortion.
Medicine (Baltimore)
; 102(43): e35697, 2023 Oct 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-37904417
6.
Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report.
Front Genet
; 14: 1037345, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37501721
7.
A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.
Mutat Res
; 662(1-2): 22-7, 2009 Mar 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-19103209
8.
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
Clin Chim Acta
; 398(1-2): 148-51, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18755172
9.
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.
Genet Test
; 12(4): 533-6, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19072565
10.
[Direct multiplex-PCR from whole blood for rapid detection of Y chromosome microdeletions].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 25(4): 406-9, 2008 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-18683137
11.
[A girl with partial monosomy 18q21: cytogenetic and molecular genetics studies].
Yi Chuan
; 30(8): 991-5, 2008 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-18779147
12.
[AZF microdeletions are not related with recurrent spontaneous abortion].
Zhonghua Nan Ke Xue
; 14(12): 1099-102, 2008 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-19157230
13.
[Evaluation of CD4+ CD25+ regulatory T cells in the peripheral blood of recurrent spontaneous abortion patients].
Zhonghua Nan Ke Xue
; 14(12): 1106-8, 2008 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-19157232
14.
[Observation of spermatogenic cells for infertile patients with Y-chromosomal microdeletion].
Zhonghua Nan Ke Xue
; 14(11): 998-1002, 2008 Nov.
Artículo
en Zh
| MEDLINE | ID: mdl-19102500
15.
[Prenatal diagnosis of two pregnancies with risk of chromosomal disorders].
Zhonghua Nan Ke Xue
; 13(7): 624-7, 2007 Jul.
Artículo
en Zh
| MEDLINE | ID: mdl-17725307
16.
[Clinical, molecular and cytogenetic studies on 4 patients with 46, XX (SRY positive) male syndrome].
Zhonghua Nan Ke Xue
; 13(12): 1094-7, 2007 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-18284058
17.
A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21-12p12.2 by oligonucleotide array CGH.
Am J Med Genet A
; 149A(10): 2321-3, 2009 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-19764034
18.
Second pregnancy of trisomy 21 in a mother with mosaicism.
Chin Med J (Engl)
; 120(14): 1295-6, 2007 Jul 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-17697591
19.
A case of agonadism associated with y-chromosome rearrangement: cytogenetic and molecular studies.
J Androl
; 30(6): 650-4, 2009.
Artículo
en Inglés
| MEDLINE | ID: mdl-19617372
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