المؤلفون: Rachel Rabin, John Pappas

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101178- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003248; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/10c6799b89974a9f9502e7d0f68bb350

المؤلفون: John Pappas, Seth Shanefield, Michelle Goodman, Rachel Rabin

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101348- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424004941; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/125acf738b644e8bb0f35c38532c92c3

المؤلفون: Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, Sander Pajusalu, Monica H. Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian A.E. Westrip, Regina Andrijes, Sonia K. Piasecka, Mansi Singh, Mohammed E. El-Asrag, Anetta Ptasinska, Vallo Tillmann, Martin R. Higgs, Deanna A. Carere, Andrew D. Beggs, John Pappas, Rachel Rabin, Stephen J. Smerdon, Grant S. Stewart, Katrin Õunap, Mathew L. Coleman

المصدر: The Journal of Clinical Investigation, Vol 133, Iss 7 (2023)

مصطلحات موضوعية: Cell biology, Genetics, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1558-8238

URL الوصول: https://doaj.org/article/a5976c6079974ce1ba5fd035f60800a3

المؤلفون: Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina

المصدر: Genes, Vol 14, Iss 6, p 1179 (2023)

مصطلحات موضوعية: SETD2, Luscan–Lumish syndrome, Rabin–Pappas syndrome, intellectual developmental disorder, autosomal dominant 70, overgrowth, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/6/1179; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/6fa47c7ec3ec440099b136e3173d5e5a

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

URL الوصول: https://doaj.org/article/8b3afcd6ab86417381f08c0b4a3a4364

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

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8bc14e835d25412b97b23f80259be0cf

المؤلفون: John Pappas

المساهمون: Armand Colin

المصدر: Revue d'histoire des sciences 49(4):401-414

URL الوصول: http://www.persee.fr/doc/rhs_0151-4105_1996_num_49_4_1263

المؤلفون: John Pappas

المساهمون: Presses Universitaires de France

المصدر: Dix-huitième Siècle 28(1):229-258

URL الوصول: http://www.persee.fr/doc/dhs_0070-6760_1996_num_28_1_2109

المؤلفون: John Pappas

المساهمون: Presses Universitaires de France

المصدر: Dix-huitième Siècle 26(1):227-237

URL الوصول: http://www.persee.fr/doc/dhs_0070-6760_1994_num_26_1_1985

المؤلفون: John Pappas

المساهمون: Société Diderot

المصدر: Recherches sur Diderot et sur l'Encyclopédie 14(1):145-163

URL الوصول: http://www.persee.fr/doc/rde_0769-0886_1993_num_14_1_1210