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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: TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease  Full Text
AUTHORS: Ji Hyun Lee; Jong Min Lee; Eliana Marisa Ramos; Tammy Gillis; Jayalakshmi S Mysore; Shotaro Kishikawa; Tiffany Hadzi; Audrey E Hendricks; Michael R Hayden; Patrick J Morrison; Martha Nance; Christopher A Ross; Russell L Margolis; Ferdinando Squitieri; Cinzia Gellera; Estrella Gomez Tortosa; Carmen Ayuso; Oksana Suchowersky; Ronald J Trent; Elizabeth McCusker; Andrea Novelletto; Marina Frontali; Randi Jones; Tetsuo Ashizawa; Samuel Frank; Marie Helene Saint Hilaire; Steven M Hersch; Herminia D Rosas; Diane Lucente; Madaline B Harrison; Andrea Zanko; Ruth K Abramson; Karen Marder; Jorge Sequeiros ; Bernhard B Landwehrmeyer; Ira Shoulson; Richard H Myers; Marcy E MacDonald; James F Gusella; ...More
PUBLISHED: 2012, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 424, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef