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1دورية أكاديمية
المؤلفون: T. Blaine Crowley, Ian Campbell, Abinaya Arulselvan, David Friedman, Elaine H. Zackai, Tracy R. Geoffrion, Char Witmer, J. William Gaynor, Donna M. McDonald-McGinn, Michele P. Lambert
المصدر: Platelets, Vol 35, Iss 1 (2024)
مصطلحات موضوعية: Congenital heart disease, DiGeorge syndrome, postoperative hemorrhage, surgical blood loss, thrombocytopenia, Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Dong Li, Alanna Strong, Cuiping Hou, Helen Downes, Amanda Barone Pritchard, Pamela Mazzeo, Elaine H. Zackai, Laura K. Conlin, Hakon Hakonarson
المصدر: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-9 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8166
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3دورية أكاديمية
المؤلفون: Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra
المصدر: HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
مصطلحات موضوعية: WDR5, COMPASS, neurodevelopmental disorders, intellectual disability, Mendelian disorders, multiple congenital abnormalities, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Undiagnosed Diseases Network, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga
المصدر: Molecular Autism, Vol 12, Iss 1, Pp 1-11 (2021)
مصطلحات موضوعية: Autism spectrum disorder, CACNA1E, Developmental regression, Epilepsy, Exome sequencing, Global developmental delay, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2040-2392
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5دورية أكاديمية
المؤلفون: Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Magdalena Bartnik-Głaska, Magdalena Niemiec, Dominika Grad, Małgorzata Piotrowicz, Dorota Gieruszczak-Białek, Aleksandra Pietrzyk, T. Blaine Crowley, Victoria Giunta, Daniel E. McGinn, Elaine H. Zackai, Oanh Tran, Beverly S. Emanuel, Donna M. McDonald-McGinn, Beata A. Nowakowska
المصدر: Genes, Vol 14, Iss 3, p 680 (2023)
مصطلحات موضوعية: 22q11.2DS, genomic disorder, copy number variation, CNV, single nucleotide variant, SNV, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Hayley A. Ron, Terrence Blaine Crowley, Yichuan Liu, Marta Unolt, Erica Schindewolf, Julie Moldenhauer, Jack Rychik, Elizabeth Goldmuntz, Beverly S. Emanuel, Douglas Ryba, James William Gaynor, Elaine H. Zackai, Hakon Hakonarson, Donna M. McDonald-McGinn
المصدر: Genes, Vol 14, Iss 1, p 62 (2022)
مصطلحات موضوعية: interrupted aortic arch, type B interrupted aortic arch, 22q11.2 deletion syndrome, congenital heart disease, critical congenital heart disease screening, prenatal diagnosis, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Ruben C. Gur, Tyler M. Moore, Ronnie Weinberger, Ehud Mekori‐Domachevsky, Raz Gross, Beverly S. Emanuel, Elaine H. Zackai, Edward Moss, Robert Sean Gallagher, Daniel E. McGinn, Terrence Blaine Crowley, Donna McDonald‐McGinn, Doron Gothelf, Raquel E. Gur
المصدر: Brain and Behavior, Vol 11, Iss 8, Pp n/a-n/a (2021)
مصطلحات موضوعية: 22q11.2 deletion syndrome, intelligence, IQ, linear equating, Penn Computerized Neurocognitive Battery, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2162-3279
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8دورية أكاديمية
المؤلفون: Daniel E. McGinn, T. Blaine Crowley, Tracy Heung, Oanh Tran, Edward Moss, Elaine H. Zackai, Beverly S. Emanuel, Eva W. C. Chow, Bernice E. Morrow, Ann Swillen, Anne S. Bassett, Donna M. McDonald-McGinn
المصدر: Genes, Vol 13, Iss 10, p 1800 (2022)
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Steven Pastor, Oanh Tran, Daniel E. McGinn, T. Blaine Crowley, Elaine H. Zackai, Donna M. McDonald-McGinn, Beverly S. Emanuel
المصدر: Genes, Vol 13, Iss 9, p 1668 (2022)
مصطلحات موضوعية: 22q11.2 Deletion Syndrome, microdeletion, optical mapping, recombination, structural variation, Genetics, QH426-470
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Caitlin C. Clements, Tara L. Wenger, Alisa R. Zoltowski, Jennifer R. Bertollo, Judith S. Miller, Ashley B. de Marchena, Lauren M. Mitteer, John C. Carey, Benjamin E. Yerys, Elaine H. Zackai, Beverly S. Emanuel, Donna M. McDonald-McGinn, Robert T. Schultz
المصدر: Molecular Autism, Vol 8, Iss 1, Pp 1-17 (2017)
مصطلحات موضوعية: 22q11.2 deletion syndrome, 22q11.2 duplication syndrome, Autism spectrum disorder, RANBP1, Screening, Atypical, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource