Compound Heterozygous Variants in the <i>IFT140</i> Gene Associated with Skeletal Ciliopathies by Katia Margiotti, Marco Fabiani, Antonella Cima, Antonella Viola, Francesca Monaco, Chiara Alì, Costanza Zangheri, Carmela Abramo, Claudio Coco, Alvaro Mesoraca, Claudio Giorlandino

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Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea by Ji Yoon Han, Tae Yun Kim, Joonhong Park

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MGA-related syndrome: A proposed novel disorder by Bobbi McGivern, Michelle M. Morrow, Erin Torti, Kirsty McWalter, Ingrid M. Wentzensen, Kristin G. Monaghan, Amanda Gerard, Laurie Robak, David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy, Paul Kruszka

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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

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Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies by Erfan Aref-Eshghi, Katherine J. Anderson, Lauren Boulay, Kathleen Brown, Jessica Duis, Christine A. Giummo, Jessica Ogawa, Deanna Alexis Carere, Elizabeth A. Normand, Yaping Qian, Kirsty McWalter, Erin Torti

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