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المصدر: Fetal Diagnosis and Therapy. 20:58-63
مصطلحات موضوعية: Embryology, Pathology, medicine.medical_specialty, Candidate gene, Prenatal diagnosis, Biology, Prenatal Diagnosis, Nuchal Translucency Measurement, medicine, Humans, Radiology, Nuclear Medicine and imaging, Increased nuchal translucency, In Situ Hybridization, Fluorescence, Fetus, Breakpoint, Obstetrics and Gynecology, Chromosome, Karyotype, General Medicine, Molecular biology, Karyotyping, Cytogenetic Analysis, Pediatrics, Perinatology and Child Health, Chromosomes, Human, Pair 4, Gene Deletion
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المؤلفون: Sarah T. South, Joseph L. McMichael, Gail Stetten, Cathleen S. Escallon, Daniel O. Saul, Karin J. Blakemore
المصدر: American Journal of Medical Genetics. :232-239
مصطلحات موضوعية: Genetics, Chromosomes, Artificial, Bacterial, Pathology, medicine.medical_specialty, Pregnancy, medicine.diagnostic_test, Mosaicism, Placenta, Genetic counseling, Chorionic villus sampling, Aneuploidy, Genetic Counseling, Prenatal diagnosis, Biology, medicine.disease, medicine.anatomical_structure, Chorionic Villi Sampling, Karyotyping, medicine, Chromosome abnormality, Humans, Chorionic villi, Confined placental mosaicism, In Situ Hybridization, Fluorescence, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3761ac4948b7dfa6e8ac8b838cc0661d
https://doi.org/10.1002/ajmg.a.30363 -
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المؤلفون: Marc K. Halushka, Gail Stetten, Joseph L. McMichael, Grover M. Hutchins, Karin J. Blakemore
المصدر: American journal of medical genetics. Part A. 135(2)
مصطلحات موضوعية: Adult, Male, Cerebellum, Monosomy, Foot Deformities, Congenital, Cerebellar dysplasia, Micrognathism, Chromosomes, Human, Pair 20, Aneuploidy, Autopsy, Trisomy, Biology, Blindness, Fingers, Fatal Outcome, Intellectual Disability, Complex Karyotype, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Chromosome Aberrations, Chromosomes, Human, Pair 13, Mosaicism, Anatomy, medicine.disease, Chromosome Banding, medicine.anatomical_structure, Liver, Dysplasia, Karyotyping, Chromosome Deletion, Chromosomes, Human, Pair 18