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Academic Journal

Effects of trigger-day progesterone in the preimplantation genetic testing cycle on the embryo quality and pregnancy outcomes of the subsequent first frozen-thawed blastocyst transfer.

  • Authors : Li J; Reproductive Medical Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Henan Key Laboratory of Reproduction and Genetics, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Subjects: Embryo Transfer*/Embryo Transfer*/Embryo Transfer*/methods ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Pregnancy Outcome*

  • Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Mar 06; Vol. 14, pp. 990971. Date of Electronic Publication: 2023 Mar 06 (Print Publication: 2023).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print

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Correspondence on "The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review" by Freeman et al.

  • Authors : Li J; Medical Genetics Center, Lanzhou Maternal and Child Health Hospital, Gansu, China.; Sun X

Subjects: Genetic Testing* ; Deafness*/Deafness*/Deafness*/diagnosis ; Deafness*/Deafness*/Deafness*/genetics

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 155-156. Date of Electronic Publication: 2022 Nov 14.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].

  • Authors : Chen J; Department of Rehabilitation, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430016, China. .; Hu C

Subjects: Genetic Testing* ; Genomics*; Exoribonucleases Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 Jan 10; Vol. 39 (1), pp. 48-51.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

Cell-free DNA test for pathogenic copy number variations: A retrospective study.

  • Authors : Duan HL; Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China.; Li J

Subjects: Chromosome Disorders/Chromosome Disorders/Chromosome Disorders/*diagnosis ; DNA/DNA/DNA/*blood ; DNA Copy Number Variations/DNA Copy Number Variations/DNA Copy Number Variations/*genetics

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2021 Nov; Vol. 60 (6), pp. 1066-1071.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young.

  • Authors : Li J; Department of Pharmacy, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Shu M

Subjects: Mutation* ; Precision Medicine*; Asian People/Asian People/Asian People/*genetics Maturity-Onset Diabetes of the Young, Type 2

  • Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Aug 05; Vol. 12, pp. 700342. Date of Electronic Publication: 2021 Aug 05 (Print Publication: 2021).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print

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Academic Journal

DAGM: A novel modelling framework to assess the risk of HER2-negative breast cancer based on germline rare coding mutations.

  • Authors : Yang M; Department of Breast Cancer, Cancer Centre, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.; Fan Y

Subjects: Genetic Predisposition to Disease* ; Germ-Line Mutation*; Breast Neoplasms/Breast Neoplasms/Breast Neoplasms/*genetics

  • Source: EBioMedicine [EBioMedicine] 2021 Jul; Vol. 69, pp. 103446. Date of Electronic Publication: 2021 Jun 19.Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Phenotypic and genetic analysis of a boy with inv dup del(8p)].

  • Authors : Zhang B; Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated of Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China. .; Cui W

Subjects: Genetic Testing*; Child ; Chromosome Banding

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jun 10; Vol. 38 (6), pp. 581-584.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency.

  • Authors : Jones W; Q2 Solutions - EA Genomics, 5927 S Miami Blvd., Morrisville, NC, 27560, USA. .; Gong B

Subjects: Alleles* ; Biomarkers, Tumor* ; Gene Frequency*

  • Source: Genome biology [Genome Biol] 2021 Apr 16; Vol. 22 (1), pp. 111. Date of Electronic Publication: 2021 Apr 16.Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.

  • Authors : Ding Y; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.; Li N

Subjects: Mutation*; Asian People/Asian People/Asian People/*genetics ; Biomarkers/Biomarkers/Biomarkers/*analysis

  • Source: Journal of diabetes investigation [J Diabetes Investig] 2021 Jan; Vol. 12 (1), pp. 48-62. Date of Electronic Publication: 2020 Jul 23.Publisher: Asian Association for the Study of Diabetes and Blackwell Pub. Asia Country of Publication: Japan NLM ID: 101520702 Publication Model:

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Academic Journal

Improved EGFR mutation detection sensitivity after enrichment by Cas9/sgRNA digestion and PCR amplification.

  • Authors : Wang L; The First School of Clinical Medicine, Southern Medical University, Guangzhou 510000, China.; Translational Medicine Institute, the First People's Hospital of Chenzhou Affiliated to University of South China, Chenzhou 423000, China.

Subjects: CRISPR-Associated Protein 9/CRISPR-Associated Protein 9/CRISPR-Associated Protein 9/*metabolism ; Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: Acta biochimica et biophysica Sinica [Acta Biochim Biophys Sin (Shanghai)] 2020 Dec 29; Vol. 52 (12), pp. 1316-1324.Publisher: China Science Publishing & Media Ltd Country of Publication: China NLM ID: 101206716 Publication Model: Print Cited Medium: Internet ISSN:

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