Detalhe da pesquisa
1.
A novel homozygous mutation in ACTL7A leads to male infertility.
Mol Genet Genomics
; 298(2): 353-360, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36574082
2.
Actl7a deficiency in mice leads to male infertility and fertilization failure.
Biochem Biophys Res Commun
; 623: 154-161, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35921706
3.
Two novel STAT1 mutations cause Mendelian susceptibility to mycobacterial disease.
Biochem Biophys Res Commun
; 591: 124-129, 2022 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815077
4.
A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly.
Am J Med Genet A
; 188(1): 31-36, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34467619
5.
A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation.
J Assist Reprod Genet
; 38(1): 251-259, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33140178
6.
Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain.
Hum Genet
; 139(4): 545-555, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32020363
7.
Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.
J Assist Reprod Genet
; 37(4): 841-847, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32048119
8.
Novel compound heterozygous mutations in WEE2 causes female infertility and fertilization failure.
J Assist Reprod Genet
; 36(9): 1957-1962, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31428887
9.
Loss of function variant in CIP2A associated with female infertility with early embryonic arrest and fragmentation.
Biochim Biophys Acta Mol Basis Dis
; 1870(6): 167228, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734318
10.
Novel Compound Heterozygous Mutation in FSIP2 Causes Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) and Male Infertility.
Reprod Sci
; 29(9): 2697-2702, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35672654
11.
Novel Heterozygous Mutations in ZP2 Cause Abnormal Zona Pellucida and Female Infertility.
Reprod Sci
; 29(10): 3047-3054, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35595959
12.
TUBB8 Mutations Cause Female Infertility with Large Polar Body Oocyte and Fertilization Failure.
Reprod Sci
; 28(10): 2942-2950, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34160777
13.
Tsga10 is essential for arrangement of mitochondrial sheath and male fertility in mice.
Andrology
; 9(1): 368-375, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32790169
14.
Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease.
PLoS One
; 14(4): e0215648, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30998751
15.
A novel MIP mutation in a Chinese family with congenital cataract.
Ophthalmic Genet
; 39(4): 473-476, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29947569
16.
The Calculations and Simulation Testing on the Elastic Modulus of Wheat.
Interdiscip Sci
; 7(2): 200-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26255061