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المؤلفون: Angela Verdoni, Michele Clemens, Rebecca Clark, Melanie Babcock, Aleksandar Rajkovic, Sarah Drewes, Leslie Walsh, Joe Sanfilippo, Elizabeth Sheehan, Devereux N. Saller, Urvashi Surti, Svetlana A. Yatsenko, Sunita Katari, Jie Hu
المصدر: Genetics in Medicine. 23:1753-1760
مصطلحات موضوعية: Male, 0301 basic medicine, Infertility, Abortion, Habitual, medicine.medical_specialty, Aneuploidy, Fertilization in Vitro, Reproductive technology, 030105 genetics & heredity, Biology, Translocation, Genetic, Miscarriage, 03 medical and health sciences, Pregnancy, medicine, Humans, Preimplantation Diagnosis, Genetics (clinical), Obstetrics, Meiosis II, medicine.disease, 030104 developmental biology, Nondisjunction, Products of conception, Karyotyping, Female
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2
المؤلفون: Jie Hu, Suneeta Madan-Khetarpal, Devereux N. Saller, Daniel B. Bellissimo, Mahmoud Aarabi, Damara Ortiz, Urvashi Surti, Aleksandar Rajkovic, Svetlana A. Yatsenko
المصدر: Clinical geneticsREFERENCES. 98(6)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Genetics, Medical, Genomics, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, DNA sequencing, 03 medical and health sciences, Young Adult, Exome Sequencing, Genetics, medicine, Humans, Clinical significance, Exome, Copy-number variation, Genetic Testing, Child, Gene, Genetics (clinical), Microarray analysis techniques, Genome, Human, Infant, Microarray Analysis, 030104 developmental biology, Child, Preschool, Cytogenetic Analysis, Medical genetics, Female
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3
المؤلفون: Aleksandar Rajkovic, Cristina Quesada-Candela, Svetlana A. Yatsenko, Stefan Kostadinov, Stacy Beck, Judith L. Yanowitz, Ronald Jaffe, Devereux N. Saller
المصدر: Prenat Diagn
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Genome instability, Abortion, Habitual, Offspring, 030105 genetics & heredity, Biology, Bioinformatics, Article, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Humans, Gene, Genetics (clinical), X chromosome, Retrospective Studies, Chromosome Aberrations, Genetics, Sex Characteristics, 030219 obstetrics & reproductive medicine, Obstetrics and Gynecology, Chromosome, Retrospective cohort study, medicine.disease, Nondisjunction, Products of conception, Cohort, Female, Maternal Age
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18475da71d3a1a06af2aec35b2e7e8b4
https://doi.org/10.1101/2020.07.01.20144535 -
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المؤلفون: Olivia Sniezek, Devereux N. Saller, Aleksandar Rajkovic, Huaiyang Jiang, Daniel B. Bellissimo, Mahmoud Aarabi, Svetlana A. Yatsenko
المصدر: Human Genetics. 137:175-181
مصطلحات موضوعية: Male, 0301 basic medicine, Databases, Factual, Genotype, Microarray, Prenatal diagnosis, 030105 genetics & heredity, Biology, Bioinformatics, Congenital Abnormalities, 03 medical and health sciences, symbols.namesake, Fetus, Holoprosencephaly, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Genetics, medicine, Humans, Exome, Genetics (clinical), Exome sequencing, Retrospective Studies, Sanger sequencing, medicine.disease, Human genetics, symbols, Female
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5
المؤلفون: Svetlana A. Yatsenko, Michele Clemens, Aleksandar Rajkovic, Urvashi Surti, Devereux N. Saller, Julia Bregand-White
المصدر: American Journal of Medical Genetics Part A. 170:2365-2371
مصطلحات موضوعية: 0301 basic medicine, Genetic counseling, Genetic Counseling, Trisomy, Prenatal diagnosis, 030105 genetics & heredity, Bioinformatics, Polymorphism, Single Nucleotide, Ultrasonography, Prenatal, 03 medical and health sciences, Pregnancy, Genetics, medicine, Humans, Genetic Testing, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Genetic testing, Chromosomes, Human, Pair 14, Comparative Genomic Hybridization, Fetus, medicine.diagnostic_test, business.industry, Pregnancy Outcome, Disease Management, medicine.disease, 030104 developmental biology, Systematic review, Female, business, Comparative genomic hybridization
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6
المؤلفون: Lakshmi Mehta, Max Krall, Aleksandar Rajkovic, John Pappas, Pablo Altschwager, Lance H. Rodan, Devereux N. Saller, Dina Schneidman-Duhovny, Ryan E. Lamont, Francois P. Bernier, Svetlana A. Yatsenko, Deborah R. Stein, Jillian S. Parboosingh, Anne B. Fulton, Wen-Hann Tan, Kathryn J. Gray, Anne Slavotinek, A. Micheil Innes, Deanna Steele, Stephanie J DeWard
المصدر: European Journal of Human Genetics. 24:1436-1444
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Genotype, BBS7, Nephrosis, 030105 genetics & heredity, Biology, Compound heterozygosity, Article, 03 medical and health sciences, Genetics, medicine, Humans, Genetics (clinical), Adaptor Proteins, Signal Transducing, Sequence (medicine), Intracellular Signaling Peptides and Proteins, Cytogenetics, Infant, Membrane Proteins, Proteins, Syndrome, medicine.disease, Pedigree, Steroid-resistant nephrotic syndrome, Cytoskeletal Proteins, Phenotype, 030104 developmental biology, Mutation, Immunology, Medical genetics, Female, Carrier Proteins, Hydrocephalus, Ventriculomegaly
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المؤلفون: Jessica Lu, Luanne M. Fraer, Devereux N. Saller, Beatrice A. Chen
المصدر: Journal of genetic counseling. 27(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Abnormal Pregnancy, Prenatal diagnosis, Chromosome Disorders, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Interquartile range, Pregnancy, Prenatal Diagnosis, medicine, Humans, Advanced maternal age, Genetics (clinical), Retrospective Studies, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Pregnancy Outcome, Gestational age, Abortion, Induced, medicine.disease, Exact test, Female, Trisomy, business, Cell-Free Nucleic Acids, Maternal Serum Screening Tests