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TITLE: A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome  Full Text
AUTHORS: Ben Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T.; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M.; Lacassie, Yves; Kim, Soo Hyun; Kim, Woo Yang; Quade, Bradley J.; Morton, Cynthia C.; Kim, Cheol Hee; Layman, Lawrence C.; Kim, Hyung Goo;
PUBLISHED: 2023, SOURCE: SCIENTIFIC REPORTS, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome  Full Text
AUTHORS: Ben Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T.; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M.; Lacassie, Yves; Kim, Soo Hyun; Kim, Woo Yang; Quade, Bradley J.; Morton, Cynthia C.; Kim, Cheol Hee; Layman, Lawrence C.; Kim, Hyung Goo;
PUBLISHED: 2023, SOURCE: SCIENTIFIC REPORTS, VOLUME: 13, ISSUE: 1
INDEXED IN: 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