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1دورية أكاديمية
المؤلفون: RK Morris, GL Malin, E Quinlan-Jones, LJ Middleton, L Diwakar, K Hemming, D Burke, J Daniels, E Denny, P Barton, TE Roberts, KS Khan, JJ Deeks, MD Kilby
المصدر: Health Technology Assessment, Vol 17, Iss 59 (2013)
مصطلحات موضوعية: randomised controlled trial, lower urinary tract obstruction, fetal vesicoamniotic shunting, survival, renal function, Medical technology, R855-855.5
وصف الملف: electronic resource
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المؤلفون: Matthew E. Hurles, Eamonn R. Maher, Bethany K. Stott, Stephanie Allen, Dominic J. McMullan, E Quinlan-Jones, Susan Hamilton, Fionnuala Mone, Mark D. Kilby, Anna N. Seale
المصدر: Fetal Diagnosis and Therapy. 48:112-119
مصطلحات موضوعية: Embryology, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, Heart disease, business.industry, Obstetrics and Gynecology, Aneuploidy, Prenatal diagnosis, General Medicine, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Radiology, Nuclear Medicine and imaging, 030212 general & internal medicine, Genetic diagnosis, business, Prospective cohort study, Uncertain significance, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9249ce5ec361c96c62b127f15acec7e
https://doi.org/10.1159/000512488 -
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المؤلفون: Dominic J. McMullan, Stephanie Allen, Julie Vogt, Fiona S. Togneri, E Quinlan-Jones, Lisa Reali, Mark D. Kilby, Malgorzata Drozniewska
المصدر: Clinical Case Reports, Vol 8, Iss 3, Pp 508-511 (2020)
Clinical Case Reportsمصطلحات موضوعية: Microarray, lcsh:Medicine, Case Report, Prenatal diagnosis, Case Reports, 030204 cardiovascular system & hematology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Second trimester, medicine, microarrays, Gene, Genetic testing, lcsh:R5-920, prenatal diagnosis, medicine.diagnostic_test, SF3B4 gene, business.industry, lcsh:R, fungi, food and beverages, General Medicine, 030220 oncology & carcinogenesis, Clinical diagnosis, DNA microarray, lcsh:Medicine (General), business, Nager syndrome
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المؤلفون: E Quinlan-Jones, Mark D. Kilby, Fionnuala Mone
المصدر: European Journal of Obstetrics & Gynecology and Reproductive Biology. 231:19-24
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Fetal dna, Cost-Benefit Analysis, Service provision, Genetic Counseling, Genomics, Prenatal diagnosis, 030105 genetics & heredity, Ultrasonography, Prenatal, Congenital Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Exome Sequencing, medicine, Humans, Routine clinical practice, Genetic Testing, Intensive care medicine, Exome sequencing, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics and Gynecology, DNA, Sequence Analysis, DNA, 3. Good health, medicine.anatomical_structure, Reproductive Medicine, Chorionic villi, Female, business, Fetal medicine
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المؤلفون: Susan Hamilton, Denise Williams, Tamás Marton, Clare O'Connor, Mark D. Kilby, E Quinlan-Jones, Stephanie Allen, Fionnuala Mone
المصدر: Queen's University Belfast-PURE
مصطلحات موضوعية: 0301 basic medicine, Adult, Pediatrics, medicine.medical_specialty, Referral, Genetics, Medical, Perinatal Death, 030105 genetics & heredity, Congenital Abnormalities, Cohort Studies, 03 medical and health sciences, Consanguinity, Young Adult, 0302 clinical medicine, Pregnancy, Gene panel, Prenatal Diagnosis, Exome Sequencing, medicine, Humans, Genetic Testing, Medical diagnosis, Fetal Death, Referral and Consultation, Genetics (clinical), Exome sequencing, Genetic testing, Retrospective Studies, Patient Care Team, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Infant, Newborn, Obstetrics and Gynecology, Retrospective cohort study, Abortion, Induced, Microarray Analysis, Perinatology, Abortion, Spontaneous, Karyotyping, Female, business, Genetic diagnosis, Cohort study
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المؤلفون: Mark D. Kilby, SC Hillman, Dominic J. McMullan, Sheila Greenfield, E Quinlan-Jones, Matthew E. Hurles, Michael Parker
المصدر: Prenatal Diagnosis. 36:935-941
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Genetic counseling, media_common.quotation_subject, Obstetrics and Gynecology, 030105 genetics & heredity, Focus group, Test (assessment), 03 medical and health sciences, Feeling, Informed consent, Family medicine, medicine, Thematic analysis, business, Genetics (clinical), Genetic testing, Qualitative research, media_common
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المؤلفون: Rachel K. Morris, Denise Williams, Stephanie Allen, Fionnuala Mone, Ka Wang Cheung, E Quinlan-Jones, Dominic J. McMullan, Susan Hamilton, Hsu P. Chong, Fiona S. Togneri, Mark D. Kilby
المصدر: Prenatal diagnosisREFERENCES. 39(12)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, DNA Copy Number Variations, Aneuploidy, Gestational Age, 030105 genetics & heredity, Ultrasonography, Prenatal, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Fetus, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Medicine, Humans, Copy-number variation, Prospective Studies, Prospective cohort study, Genetics (clinical), Chromosome Aberrations, Comparative Genomic Hybridization, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Genetic Diseases, Inborn, Obstetrics and Gynecology, Gestational age, medicine.disease, Predictive value of tests, Karyotyping, Medical genetics, Female, business, Cohort study
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المؤلفون: Mark D. Kilby, Shahela Kodabuckus, Eamonn R. Maher, Matthew E. Hurles, Dominic J. McMullan, Pelham Barton, E Quinlan-Jones
المصدر: Fetal Diagnosis and Therapy
مصطلحات موضوعية: Exome sequencing, Embryology, medicine.medical_specialty, Ultrasound scan, Cost-Benefit Analysis, Ultrasonography, Prenatal, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, parasitic diseases, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Exome, 030212 general & internal medicine, Genetic Testing, Prospective Studies, Prospective cohort study, health care economics and organizations, Oligonucleotide Array Sequence Analysis, Fetus, Original Paper, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Ultrasound, Decision Trees, Obstetrics and Gynecology, General Medicine, medicine.disease, Economic evaluation, Pediatrics, Perinatology and Child Health, Fetal anomaly, Female, Chromosomal microarray, business, Genetic diagnosis, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ff11d084526f6b7aa21ba598f3da232
https://pubmed.ncbi.nlm.nih.gov/31962312 -
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المؤلفون: Sue Hamilton, Denise Williams, Katie Morris, Tamás Marton, Natasha Butts, Victoria Hodgetts Morton, E Quinlan-Jones
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, prenatal diagnosis, business.industry, Prenatal diagnosis, Case Report, General Medicine, Antenatal ultrasound, KBG SYNDROME, Case Reports, 030105 genetics & heredity, Bioinformatics, Phenotype, ANKRD11, KBG syndrome, 03 medical and health sciences, Medicine, business, Gene
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المؤلفون: F. Mone, B. Stott, S. Hamilton, A.N. Seale, E. Quinlan‐Jones, S. Allen, M.E. Hurles, D.J. McMullan, E.R. Maher, M.D. Kilby
المصدر: Ultrasound in Obstetrics & Gynecology. 56:194-194
مصطلحات موضوعية: Reproductive Medicine, Radiological and Ultrasound Technology, Obstetrics and Gynecology, Radiology, Nuclear Medicine and imaging, General Medicine