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1دورية أكاديمية
المؤلفون: Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
المؤلفون: Petr Danecek, Eugene J. Gardner, Tomas W. Fitzgerald, Giuseppe Gallone, Joanna Kaplanis, Ruth Y. Eberhardt, Caroline F. Wright, Helen V. Firth, Matthew E. Hurles
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101818- (2024)
مصطلحات موضوعية: Chromosomal microarrays, Copy-number variation, Exome sequencing, Neurodovelopmental disease, Rare disease, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Ruth Y. Eberhardt, Caroline F. Wright, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100836- (2023)
مصطلحات موضوعية: Anueploidy, Chromosomal alterations, Developmental disorders, Mosaic, Uniparental disomy, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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المؤلفون: Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0c96c62bd29688eef22e62c5d003f9c9
https://doi.org/10.1101/2023.04.20.23288860 -
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المؤلفون: Teresa N. Sparks, Mary E. Norton, Fionnuala Mone, Lyn S. Chitty, Matthew E. Hurles, J. L. Giordano, Luming Sun, Ronald J. Wapner, Dominic J. McMullan, Eamonn R. Maher, Ruth Y. Eberhardt, Jenny Lord, Tessa Homfray, Esther Dempsey, Mark D. Kilby
المصدر: Ultrasound Obstet Gynecol
مصطلحات موضوعية: medicine.medical_specialty, Hydrops Fetalis, Prenatal diagnosis, Article, Obstetrics and gynaecology, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Hydrops fetalis, Exome Sequencing, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Prospective Studies, Prospective cohort study, Exome, Exome sequencing, Radiological and Ultrasound Technology, business.industry, Obstetrics, High-Throughput Nucleotide Sequencing, Obstetrics and Gynecology, General Medicine, Microarray Analysis, medicine.disease, Reproductive Medicine, Karyotyping, Meta-analysis, Cohort, Female, business
وصف الملف: text
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المؤلفون: Ronald J. Wapner, DB Goldstein, Ruth Y. Eberhardt, Eamonn R. Maher, Kilby, Dominic J. McMullan, JL Giordano, Vimla Aggarwal, Rhiannon Mellis, LS Chitty, Matthew E. Hurles, Susan Hamilton
المصدر: BJOG
مصطلحات موضوعية: Adult, medicine.medical_specialty, Population, Trisomy, Ultrasonography, Prenatal, Article, Cohort Studies, symbols.namesake, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Exome Sequencing, medicine, Humans, Prospective Studies, Prospective cohort study, education, Increased nuchal translucency, Fisher's exact test, Exome sequencing, Retrospective Studies, Fetus, education.field_of_study, Obstetrics, business.industry, Obstetrics and Gynecology, medicine.disease, United Kingdom, United States, Pregnancy Trimester, First, symbols, Gestation, Female, Nuchal Translucency Measurement, business
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المؤلفون: Caroline F. Wright, Patrick Campbell, Ruth Y. Eberhardt, Stuart Aitken, Daniel Perrett, Simon Brent, Petr Danecek, Eugene J. Gardner, V. Kartik Chundru, Sarah J. Lindsay, Katrina Andrews, Juliet Hampstead, Joanna Kaplanis, Kaitlin E. Samocha, Anna Middleton, Julia Foreman, Rachel J. Hobson, Michael J. Parker, Hilary C. Martin, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::177be3acb06dd6b577adbe8be124026e
https://doi.org/10.1101/2022.07.25.22278008 -
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المؤلفون: Lyn S. Chitty, Ronald J. Wapner, Matthew E. Hurles, Dominic J. McMullan, Jenny Lord, Mark D. Kilby, Ruth Y. Eberhardt, Fionnuala Mone, R. K. Morris, Eamonn R. Maher, J. L. Giordano
المصدر: Ultrasound in Obstetrics & Gynecology. 57:43-51
مصطلحات موضوعية: Heart Defects, Congenital, medicine.medical_specialty, Heart disease, Heart malformation, Prenatal diagnosis, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Internal medicine, Exome Sequencing, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Prospective Studies, cardiovascular diseases, 030212 general & internal medicine, Prospective cohort study, Exome sequencing, 030219 obstetrics & reproductive medicine, Radiological and Ultrasound Technology, business.industry, Genitourinary system, Obstetrics and Gynecology, General Medicine, Microarray Analysis, medicine.disease, 3. Good health, Reproductive Medicine, Karyotyping, Cohort, Female, business, Kabuki syndrome