Found: 31
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Genetic etiology of agenesis of the corpus callosum: a retrospective single-center cohort analysis of 114 fetuses.
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- Archives of Gynecology & Obstetrics, 2024, v. 310, n. 1, p. 181, doi. 10.1007/s00404-024-07544-9
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Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63491
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- Article
Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age.
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- Orphanet Journal of Rare Diseases, 2024, p. 1, doi. 10.1186/s13023-024-03066-4
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- Article
Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans.
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- BMC Pregnancy & Childbirth, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12884-023-05921-x
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- Article
A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1155639
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- Article
Identification of POLR3B biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings.
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- Clinical Genetics, 2023, v. 103, n. 5, p. 596, doi. 10.1111/cge.14300
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- Article
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2078
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- Article
Long‐read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2011
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- Article
Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient.
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- Genetics Research, 2022, p. 1, doi. 10.1155/2022/5611697
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- Article
CEP128 is involved in spermatogenesis in humans and mice.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29109-7
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Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.792183
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Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2021.811414
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- Article
Noninvasive Prenatal Screening Based on Second-Trimester Ultrasonographic Soft Markers in Low-Risk Pregnant Women.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.793894
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- Article
A rare complex rearrangement in the β‐globin gene cluster causing a novel homozygous <sup>G</sup>γ(<sup>A</sup>γδβ)<sup>0</sup>‐thalassemia.
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- American Journal of Hematology, 2021, v. 96, n. 6, p. E189, doi. 10.1002/ajh.26148
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- Article
Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis.
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- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.666648
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REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1488
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- Article
Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.
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- Clinical Genetics, 2020, v. 98, n. 4, p. 396, doi. 10.1111/cge.13815
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- Article
A 17q24.3 duplication identified in a large Chinese family with brachydactyly‐anonychia.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1392
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- Article
Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings.
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- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00274-4
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- Article
Segmental aneuploidies in fetuses with isolated echogenic intracardiac focus among women younger than 35 years.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67501-9
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- Article
A Retrospective Analysis Of Different Contingent Screening Models For Fetal Down Syndrome In Southwestern China.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66320-2
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- Article
Diagnostic Accuracy of Interleukin-27 in Bronchoalveolar Lavage Fluids for Pulmonary Tuberculosis.
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- Infection & Drug Resistance, 2019, v. 12, p. 3755, doi. 10.2147/IDR.S231215
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Multifunctional N,S co-doped carbon dots for sensitive probing of temperature, ferric ion, and methotrexate.
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- Analytical & Bioanalytical Chemistry, 2019, v. 411, n. 8, p. 1647, doi. 10.1007/s00216-019-01617-4
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- Article
Copy number variation of GATA4 and NKX2-5 in Chinese fetuses with congenital heart disease.
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- Pediatrics International, 2015, v. 57, n. 2, p. 234, doi. 10.1111/ped.12489
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- Article
1-calcium phosphate-uracil, a synthesized pyrimidine derivative agent, has anti-proliferative, pro-apoptotic and anti-invasion effects on multiple tumor cell lines.
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- Molecular Medicine Reports, 2014, v. 10, n. 5, p. 2271, doi. 10.3892/mmr.2014.2489
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- Article
USP9X expression correlates with tumor progression and poor prognosis in esophageal squamous cell carcinoma.
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- Diagnostic Pathology, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1746-1596-8-177
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- Article
Rapid Detection of Aneuploidy and Unbalanced Chromosomal Rearrangements by Subtelomeric Multiplex Ligation-Dependent Probe Amplification in Fetuses with Congenital Heart Disease.
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- Fetal Diagnosis & Therapy, 2013, v. 34, n. 2, p. 110, doi. 10.1159/000350272
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Ovarian masses in children and adolescents in China: analysis of 203 cases.
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- Journal of Ovarian Research, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1757-2215-6-47
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Establishment of a new representative model of human ovarian cancer in mice.
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- Journal of Ovarian Research, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1757-2215-6-9
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- Article
The study of laparoscopic electrosurgical instruments on thermal effect of uterine tissues.
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- Archives of Gynecology & Obstetrics, 2012, v. 285, n. 6, p. 1637, doi. 10.1007/s00404-011-2207-0
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- Article
Genomic amplification of the human telomerase gene (hTERC) associated with human papillomavirus is related to the progression of uterine cervical dysplasia to invasive cancer.
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- Diagnostic Pathology, 2012, v. 7, n. 1, p. 147, doi. 10.1186/1746-1596-7-147
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- Article