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TITLE: Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
AUTHORS: Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A.; Farholt, Stense; Ferreira, Carlos R.; Wolfe, Lynne A.; Gahl, William A.; Gnazzo, Maria; Goel, Himanshu; Gronborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A.; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F.; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W.; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P.; Sawyer, Sarah; Falkenberg Smeland, Marie; Stegmann, Sander; Stumpel, Constanze T.; Goel, Amy; Taylor, Juliet M.; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
INDEXED IN: Scopus WOS
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TITLE: Diagnosis of Chediak Higashi disease in a 67-year old woman  Full Text
AUTHORS: David S Yarnell; Joseph C Roney; Claudia Teixeira; Maria I Freitas; Ana Cipriano; Pedro Leuschner; Konrad Krzewski; Joshi Stephen; Heidi Dorward; William A Gahl; Bernadette R Gochuico; Camilo Toro; May C Malicdan; Wendy J Introne;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
INDEXED IN: Scopus WOS
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TITLE: ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. HUMAN MUTATION  Full Text
AUTHORS: Bobby G Ng; Sergey A Shiryaev; Daisy Rymen; Erik A Eklund; Kimiyo Raymond; Martin Kircher; Jose E Abdenur; Fusun Alehan; Alina T Midro; Michael J Bamshad; Rita Barone; Gerard T Berry; Jane E Brumbaugh; Kati J Buckingham; Katie Clarkson; Sessions S Cole; Shawn O'Connor; Gregory M Cooper; Rudy Van Coster; Laurie A Demmer; Luisa Diogo; Alexander J Fay; Can Ficicioglu; Agata Fiumara; William A Gahl; Rebecca Ganetzky; Himanshu Goel; Lyndsay A Harshman; Miao He; Jaak Jaeken; Philip M James; Daniel Katz; Liesbeth Keldermans; Maria Kibaek; Andrew J Kornberg; Katherine Lachlan; Christina Lam; Joy Yaplito Lee; Deborah A Nickerson; Heidi L Peters; Valerie Race; Luc Regal; Jeffrey S Rush; Lane L Rutledge; Jay Shendure; Erika Souche; Susan E Sparks; Pamela Trapane; Amarilis Sanchez Valle; Eric Vilain; Arve Vollo; Charles J Waechter; Raymond Y Wang; Lynne A Wolfe; Derek A Wong; Tim Wood; Amy C Yang; Univ Washington; Gert Matthijs; Hudson H Freeze; ...More
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
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TITLE: The secretory small GTPase Rab27B as a marker for breast cancer progression
AUTHORS: An Hendrix; Geert Braems; Marc Bracke; Miguel C Seabra; William A Gahl; Olivier De Wever; Wendy Westbroek;
PUBLISHED: 2010, SOURCE: ONCOTARGET, VOLUME: 1, ISSUE: 4
INDEXED IN: WOS
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TITLE: Effect of the Secretory Small GTPase Rab27B on Breast Cancer Growth, Invasion, and Metastasis
AUTHORS: An Hendrix; Dawn Maynard; Patrick Pauwels; Geert Braems; Hannelore Denys; Rudy Van den Broecke; Jo Lambert; Simon Van Belle; Veronique Cocquyt; Christian Gespach; Marc Bracke; Miguel C Seabra; William A Gahl; Olivier De Wever; Wendy Westbroek;
PUBLISHED: 2010, SOURCE: JOURNAL OF THE NATIONAL CANCER INSTITUTE, VOLUME: 102, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef