Found: 11
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Copy number variation of functional RBMY1 is associated with sperm motility: an azoospermia factor-linked candidate for asthenozoospermia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Combined analysis of genome-wide-linked susceptibility loci to Kawasaki disease in Han Chinese.
- Published in:
- Human Genetics, 2013, v. 132, n. 6, p. 669, doi. 10.1007/s00439-013-1279-2
- By:
- Publication type:
- Article
Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01358-x
- By:
- Publication type:
- Article
Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of MKS1.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.843931
- By:
- Publication type:
- Article
Prenatal Diagnosis and Genetic Analysis of 21q21.1–q21.2 Aberrations in Seven Chinese Pedigrees.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.731815
- By:
- Publication type:
- Article
X Chromosome Inactivation Pattern and Pregnancy Outcome of Female Carriers of Pathogenic Heterozygous X-Linked Deletions.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.782629
- By:
- Publication type:
- Article
CEP128 is involved in spermatogenesis in humans and mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29109-7
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- Publication type:
- Article
Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1347
- By:
- Publication type:
- Article
Primary azoospermia factor C duplication associated with spermatogenic impariment: a case–control study based on Y‐chromosome haplogrouping in a Han Chinese population.
- Published in:
- Andrology, 2024, v. 12, n. 3, p. 561, doi. 10.1111/andr.13510
- By:
- Publication type:
- Article
Effects of ultrasonic pretreatment on the flotation behavior of galena with and without the presence of pyrite.
- Published in:
- Physicochemical Problems of Mineral Processing, 2020, v. 56, n. 4, p. 611, doi. 10.37190/ppmp/123406
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- Publication type:
- Article
An assessment of the analytical performance of non‐invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies: 34,717‐patient sample in a single prenatal diagnosis Centre in China.
- Published in:
- Journal of Gene Medicine, 2021, v. 23, n. 9, p. 1, doi. 10.1002/jgm.3362
- By:
- Publication type:
- Article