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1
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: Svetlana Yatsenko, Urvashi Surti, Damara Ortiz, Aleksandar Rajkovic, Suneeta Madan-Khetarpal, Mahmoud Aarabi, Devereux N. Saller, Jie Hu, Daniel B. Bellissimo
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8cbefb2c283ee7e03012baebb95bb40d
https://doi.org/10.1111/cge.13852/v2/response1 -
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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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4
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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6
المؤلفون: Michele Clemens, Manesha Putra, Svetlana A. Yatsenko, Devereux N. Saller, Aleksandar Rajkovic, Jie Hu, Deana Steele, Urvashi Surti
المصدر: American Journal of Medical Genetics Part A. 173:3153-3157
مصطلحات موضوعية: Adult, 0301 basic medicine, Down syndrome, Monosomy, Chromosomes, Human, Pair 21, Isochromosome, Prenatal diagnosis, Chromosomal rearrangement, Biology, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, 030225 pediatrics, Genetics, medicine, Humans, Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Genetics (clinical), Infant, Newborn, medicine.disease, Phenotype, 030104 developmental biology, Echocardiography, Karyotyping, Chromosome abnormality, Female, Chromosome Deletion, Down Syndrome, Chromosome 21, Trisomy
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7
المؤلفون: Svetlana A. Yatsenko, Michele Clemens, Jie Hu, Rebecca Clark, Elizabeth Sheehan, Leslie Walsh, Urvashi Surti, Sunita Katari, Melanie Babcock, Joe Sanfilippo, Aleksandar Rajkovic, Sarah Drewes, Devereux N. Saller, Angela Verdoni
المصدر: Molecular Genetics and Metabolism. 132:S318
مصطلحات موضوعية: Genetics, Endocrinology, Endocrinology, Diabetes and Metabolism, Chromosomal translocation, Biology, Molecular Biology, Biochemistry, Reciprocal
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8
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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9
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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10
المصدر: International Journal of Gynecology & Obstetrics. 133:287-290
مصطلحات موضوعية: Adult, Down syndrome, medicine.medical_specialty, Pregnancy Trimester, Third, Population, Gestational Age, Ultrasonography, Prenatal, Fetal Development, Tertiary Care Centers, 03 medical and health sciences, Fetus, 0302 clinical medicine, Pregnancy, Reference Values, 030225 pediatrics, medicine, Humans, education, Retrospective Studies, education.field_of_study, 030219 obstetrics & reproductive medicine, Anthropometry, business.industry, Obstetrics, Pregnancy Outcome, Obstetrics and Gynecology, Gestational age, Retrospective cohort study, General Medicine, medicine.disease, United States, Pregnancy Trimester, Second, Linear Models, Gestation, Female, Down Syndrome, Trisomy, business