المؤلفون: Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/8bc14e835d25412b97b23f80259be0cfTest

المؤلفون: Ulrike Hueffmeier, Cornelia Kraus, Miriam Reuter, Steffen Uebe, Mary-Alice Abbott, Syed Ahmed, Kristyn Rawson, Eileen Barr, Hong Li, ange-line bruel, Laurence Faivre, Frederic Tran Mau Them, Christina Botti, Susan Brooks, Kaitlyn Burns, Isum Ward, Marina Dutra-Clarke, Julian Martinez-Agosto, Hane Lee, Stanley Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie MacGaughran, Juergen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Rothschild, Maria Guillen Sacoto, Lindsay Henderson, Timothy Palculict, Sureni Mullegama, Houda Elloumi, Adi Reich, Samantha Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3a3012b08b39e8a11e46330ffe77c2a4Test
https://doi.org/10.22541/au.160253804.44054844/v1Test

المؤلفون: Ulrike Hüffmeier (8830046), Cornelia Kraus (3272667), Miriam S. Reuter (9377699), Steffen Uebe (390051), Mary-Alice Abbott (10329659), Syed A. Ahmed (10329662), Kristyn L. Rawson (10329665), Eileen Barr (10329668), Hong Li (20183), Ange-Line Bruel (3178743), Laurence Faivre (397333), Frédéric Tran Mau-Them (10329671), Christina Botti (10329674), Susan Brooks (10329677), Kaitlyn Burns (10329680), D. Isum Ward (10329683), Marina Dutra-Clarke (5940176), Julian A. Martinez-Agosto (10329686), Hane Lee (253935), Stanley F. Nelson (10329689), Pia Zacher (10329692), Rami Abou Jamra (558384), Chiara Klöckner (10329695), Julie McGaughran (3862957), Jürgen Kohlhase (10329698), Sarah Schuhmann (10329701), Ellen Moran (2633275), John Pappas (10329704), Annick Raas-Rothschild (6873299), Maria J. Guillen Sacoto (10329707), Lindsay B. Henderson (10329710), Timothy Blake Palculict (10329713), Sureni V. Mullegama (10329716), Houda Zghal Elloumi (10329719), Adi Reich (10329722), Samantha A. Schrier Vergano (10329725), Erica Wahl (10329728), André Reis (166910), Christiane Zweier (478497)

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Sociology, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone

العلاقة: https://figshare.com/articles/dataset/Additional_file_1_of_EIF3F-related_neurodevelopmental_disorder_refining_the_phenotypic_and_expanding_the_molecular_spectrum/14247620Test

الإتاحة: https://doi.org/10.6084/m9.figshare.14247620.v1Test

المؤلفون: Ulrike Hüffmeier (8830046), Cornelia Kraus (3272667), Miriam S. Reuter (9377699), Steffen Uebe (390051), Mary-Alice Abbott (10329659), Syed A. Ahmed (10329662), Kristyn L. Rawson (10329665), Eileen Barr (10329668), Hong Li (20183), Ange-Line Bruel (3178743), Laurence Faivre (397333), Frédéric Tran Mau-Them (10329671), Christina Botti (10329674), Susan Brooks (10329677), Kaitlyn Burns (10329680), D. Isum Ward (10329683), Marina Dutra-Clarke (5940176), Julian A. Martinez-Agosto (10329686), Hane Lee (253935), Stanley F. Nelson (10329689), Pia Zacher (10329692), Rami Abou Jamra (558384), Chiara Klöckner (10329695), Julie McGaughran (3862957), Jürgen Kohlhase (10329698), Sarah Schuhmann (10329701), Ellen Moran (2633275), John Pappas (10329704), Annick Raas-Rothschild (6873299), Maria J. Guillen Sacoto (10329707), Lindsay B. Henderson (10329710), Timothy Blake Palculict (10329713), Sureni V. Mullegama (10329716), Houda Zghal Elloumi (10329719), Adi Reich (10329722), Samantha A. Schrier Vergano (10329725), Erica Wahl (10329728), André Reis (166910), Christiane Zweier (478497)

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Sociology, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone

العلاقة: https://figshare.com/articles/figure/Additional_file_2_of_EIF3F-related_neurodevelopmental_disorder_refining_the_phenotypic_and_expanding_the_molecular_spectrum/14247623Test

الإتاحة: https://doi.org/10.6084/m9.figshare.14247623.v1Test

المؤلفون: Paul Kruszka, Sreehari Kalvakuri, Austin Larson, Dong Li, Inge van Outersterp, Florence Demurger, Ian Hayes, F. Lucy Raymond, Lauren J. Massingham, Claudia A. L. Ruivenkamp, Ian D. Krantz, Kendra Brunet, Nicole Revencu, Maaike Vreeburg, Donatella Milani, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Maximilian Muenke, Sinje Geuer, Candace Gamble, Rolf Bodmer, Hanka Venselaar, Elke de Boer, Sarina G. Kant, Dilys Weijers, Arjan P.M. de Brouwer, Machteld M. Oud, Maria Iascone, Christopher C. Griffith, Frédéric Tran Mau-Them, Karin Weiss, Megan T. Cho, Ayesha Ahmad, James A. Bartley, Nina Powell Hamilton, Lenika De Simone, George E. Hoganson, Lucie Evenepoel, Simone Kersten, Daniel L. Polla, Himanshu Goel, Antonio Vitobello, Rachel Fisher, Arthur Sorlin, Sébastien Moutton, Myrthe van den Born, Hilary J. Vernon, Michael Kwint, Kaitlyn Burns, Anna Ruiz, Kirsty McWalter, Jenny Morton, Jennifer Schwab, Elizabeth J. Bhoj, Philippe Christophe, Hans van Bokhoven, Elisabeth Gabau, Kimberly M. Nugent, Jill R. Murrell, Thierry Billette de Villemeur, Kathleen Wood, Alexandra Afenjar, Amber Begtrup, Chanika Phornphutkul, Sarah E. Raible, Melde Witmond, Perrine Charles, Claudia Soler-Alfonso, D. Isum Ward, Marjolaine Willems, Boris Keren, Julian Delanne

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Clinical Genetics, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9)

المصدر: Am J Hum Genet
American journal of human genetics, Vol. 107, no.1, p. 164-172 (2020)
American Journal of Human Genetics, 107(1), 164-172. Cell Press
American Journal of Human Genetics, 107(1), 164-172. CELL PRESS
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 164-172
American Journal of Human Genetics, 107, 1, pp. 164-172

مصطلحات موضوعية: Male, DYRK1A, Developmental Disabilities, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Gene Expression, de novo mutations, Haploinsufficiency, 0302 clinical medicine, Gene expression, Nuclear Receptor Subfamily 4, Group A, Member 2, Genetics (clinical), Genetics, 0303 health sciences, Gene knockdown, repressor, neurodevelopment, Protein Stability, CCR4-NOT complex, Phenotype, developmental delay, intellectual disability, Drosophila, deadenylase complex, Female, regulators, Heterozygote, Receptors, CCR4, Biology, Nervous System Malformations, 03 medical and health sciences, Report, genomics, Humans, Gene, Alleles, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic Variation, Protein ubiquitination, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Neurodevelopmental Disorders, SUBUNIT, RNA, CNOT1, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], exome sequencing, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::006da9edc9adc505442f388151f9f1a2Test
https://pubmed.ncbi.nlm.nih.gov/32553196Test

المؤلفون: Jennifer M Hoskovec, Susan Hahn, Quinn Stein, Jennifer Leonhard, Amy Swanson, Kaitlyn Burns

المصدر: Journal of Genetic Counseling.

مصطلحات موضوعية: Canada, 0303 health sciences, Genetic counseling, Direct patient care, 030305 genetics & heredity, Genetic Counseling, Advertising, Policy analysis, Job market, United States, 03 medical and health sciences, Counselors, 0302 clinical medicine, 030220 oncology & carcinogenesis, Workforce, Humans, Personnel Selection, Training program, Psychology, Genetics (clinical), Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aba0d9c1344f7d4ee4cca0595bac6312Test
https://doi.org/10.1002/jgc4.1129Test