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1دورية أكاديمية
المؤلفون: Bonnie Sullivan, Lauren Bartik
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101123- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Kendra Engleman, Ana S.A. Cohen, Joseph Alaimo, Bonnie Sullivan
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101132- (2024)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Lauren Bartik, Elena Repnikova, Eric Rush, Jennifer Roberts, Erin Baldwin, John Carey, Lorenzo Botto, John O'Shea, Ting Wen, Pinar Bayrak-Toydemir, Rong Mao, Undiagnosed Diseases Network, Bonnie Sullivan
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101292- (2024)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Emily Farrow, Laura Cross, Bonnie Sullivan, Keely Fitzgerald, Ahmed Abdelmoity, Joseph Alaimo, Elena Repnikova, John Herriges, Lei Zhang
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100504- (2023)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Isabelle Thiffault, Joseph Alaimo, Vitoria Paolillo, Florencia Del Viso, Ana Cohen, Emily Farrow, Susan Starling, Maggie Humphrey, Caitlin Schwager, Lauren Bartik, Kendra Engleman, Laura Cross, Holly Welsh, Eric Rush, Shivarajan Amudhavalli, Bonnie Sullivan, Dihong Zhou, Elizabeth Shaffer, Waseem Baig, Lee Zellmer, Mary Rindler, Tricia Zion, Emelia Boillat, Tomi Pastinen, Carol Saunders
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100618- (2023)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler
المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
مصطلحات موضوعية: Neurodevelopmental disorders, hnRNPs, Cortex development, Gene families, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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7
المؤلفون: Stephanie A. Balow, Robert J. Hopkin, Sara Hopkin, K. Nicole Weaver, Howard M. Saal, Rolf W. Stottmann, Xue Zhang, Patricia L. Bender, Brian S. Pan, Bonnie Sullivan, Barbara A. Chini
المصدر: American Journal of Medical Genetics Part A. 188:160-177
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Robin Sequence, Pierre Robin Syndrome, Respiratory distress, business.industry, Micrognathism, Glossoptosis, Infant, Newborn, Airway obstruction, medicine.disease, Feeding difficulty, Airway Obstruction, Cleft Palate, Management implications, Genetics, medicine, Humans, Medical diagnosis, medicine.symptom, Child, business, Genetics (clinical), Retrospective Studies
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8
المؤلفون: Elizabeth K. Baker, Beulah Solivio, Ben Pode‐Shakked, Laura Ann Cross, Bonnie Sullivan, Annick Raas‐Rothschild, Odelia Chorin, Ortal Barel, Omer Bar‐Yosef, Ammar Husami, Robert J. Hopkin, Carlos E. Prada, Rolf W. Stottmann, Kathryn Nicole Weaver
المصدر: American journal of medical genetics. Part AREFERENCES. 188(11)
مصطلحات موضوعية: Heart Defects, Congenital, Neurodevelopmental Disorders, Genetics, Serine, Humans, Protein Phosphatase 2, Nervous System Malformations, Genetics (clinical), Hydrocephalus, Transcription Factors
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9
المؤلفون: Caroline M, Kolvenbach, Tim, Felger, Luca, Schierbaum, Isabelle, Thiffault, Tomi, Pastinen, Maria, Szczepańska, Marcin, Zaniew, Piotr, Adamczyk, Allan, Bayat, Öznur, Yilmaz, Tobias T, Lindenberg, Holger, Thiele, Friedhelm, Hildebrandt, Katrin, Hinderhofer, Ute, Moog, Alina C, Hilger, Bonnie, Sullivan, Lauren, Bartik, Piotr, Gnyś, Phillip, Grote, Benjamin, Odermatt, Heiko M, Reutter, Gabriel C, Dworschak
المصدر: Journal of medical genetics.
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10
المؤلفون: Rolf W. Stottmann, Farrah Jackson, Howard M. Saal, Bonnie Sullivan, Katherine Abell, Robert J. Hopkin, Patricia L. Bender, Kelly Smallwood, K. Nicole Weaver
المصدر: Am J Med Genet A
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Microcephaly, Adolescent, Tracheoesophageal fistula, Haploinsufficiency, Article, GTP Phosphohydrolases, Cohort Studies, Young Adult, symbols.namesake, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Craniofacial, Child, Ribonucleoprotein, U5 Small Nuclear, Genetics (clinical), Sanger sequencing, business.industry, Infant, Mandibulofacial dysostosis, Middle Aged, Peptide Elongation Factors, medicine.disease, Phenotype, Child, Preschool, Mutation, Cohort, Spliceosomes, symbols, Female, business, Mandibulofacial Dysostosis