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1دورية أكاديمية
المؤلفون: Carol Saunders, Joseph Alaimo, Florencia Del Viso, Victoria Paolillo, Ana S.A. Cohen, John Herriges, Greg Marsh, Isabelle Thiffault, Emily Farrow
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101014- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Emily Spector, Erica Andersen, John Herriges, Anne Higgins, Brynn Levy, Ludmila Matyakhina, Christa Martin, Daniel Pineda-Alvarez, Lina Shao, Shashirekha Shetty, Andrea Vaags, Erik Thorland, Sung-Hae Kang, Chelsea Lowther, Dominic McMullan, Erin Riggs
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101482- (2024)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Rishabh Gaur, John Herriges, Isabelle Thiffault, Julie Joyce, Eric Rush, Elena Repnikova
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101535- (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: John Herriges, Jennifer Roberts, Elena Repnikova, Lei Zhang
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100531- (2023)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: John Herriges, Cassandra Runke, Zoe Lewis, Lucilla Pizzo, Bradley Coe, Laura Conlin, Benjamin Hilton, Brynn Levy, Andrea Vaags, Shulin Zhang, Christa Martin, Erica Andersen
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100532- (2023)
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Lee Zellmer, Mary Rindler, Maggie Humphrey, Jennifer Roberts, Eric Rush, JD Nolen, John Herriges, Ara Hall, Shivarajan Amudhavalli, Carol Saunders
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100598- (2023)
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Lei Zhang, Janda Jenkins, Jennifer Roberts, Elena Repnikova, Shivarajan Amudhavalli, Marla Kennard, Mary Champion, John Herriges
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100641- (2023)
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Erica Wee, John Herriges, Kavitha Dileepan, Sarah L. Tsai, Joseph T. Alaimo, Emily Paprocki
المصدر: Case Reports in Endocrinology, Vol 2023 (2023)
مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2090-651X
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10
المؤلفون: Erin Conboy, Catherine Nowak, Karen Stals, Elliot S. Stolerman, Brett Bostwick, Tiana M. Scott, Emma Wakeling, Cyril Mignot, Sian Ellard, Brittany C. Michel, Kayla Treat, Berrak Ugur, Jill A. Rosenfeld, Caroline Nava, Sally Ann Lynch, Victoria M. Pratt, Hugo J. Bellen, Aiko Otsubo, Michael F. Wangler, Jennifer Gass, John Herriges, Jennifer B. Phillips, Gaetan Lesca, Bo Yuan, Shinya Yamamoto, Scott Barish, Marjon van Slegtenhorst, Jessica Douglas, Dihong Zhou, Patrick Edery, David R. Murdock, Jeremy Wegner, Jose Camacho, Marie Faoucher, Boris Keren, Camerun Washington, Elena Perenthaler, Kendra Engleman, Francesco Vetrini, Anita Nikoncuk, Alfredo M. Valencia, Daryl A. Scott, Cigall Kadoch, Isabelle Thiffault, Tahsin Stefan Barakat, Chun-An Chen, Lance H. Rodan, Raymond J. Louie, Hongzheng Dai, Alice S. Brooks, Nazar Mashtalir, Monte Westerfield, Nora Shannon
المساهمون: Clinical Genetics
المصدر: Am J Hum Genet
American Journal of Human Genetics, 107(6), 1096-1112. Cell Pressمصطلحات موضوعية: Male, Adolescent, Chromosomal Proteins, Non-Histone, Developmental Disabilities, Mutation, Missense, Haploinsufficiency, Article, Chromatin remodeling, 03 medical and health sciences, 0302 clinical medicine, Genetics, Animals, Drosophila Proteins, Humans, Missense mutation, Child, Zebrafish, Genetics (clinical), Genes, Dominant, 030304 developmental biology, Neurons, 0303 health sciences, Microscopy, Confocal, biology, SWI/SNF complex, Coarse facial features, Tumor Suppressor Proteins, Genetic Variation, Infant, Zebrafish Proteins, Position-effect variegation, biology.organism_classification, Phenotype, Drosophila melanogaster, Child, Preschool, Female, Neuroglia, 030217 neurology & neurosurgery, Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a2119984a12b57df62077f22734a60
https://doi.org/10.1016/j.ajhg.2020.11.003