Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Loh, Abigail" or (type exact bookEditor and editor="Loh, Abigail") Add to list Journal Article A1 open access Discriminative features in three autosomal recessive cutis laxa syndromes : cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, et al. (2017) INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 18(3). Add to list Journal Article A1 Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E Lin, Inderneel Sahai, Paulina Bahena, Sara L Reichert, Abigail Loh, et al. (2015) AMERICAN JOURNAL OF HUMAN GENETICS. 97(3). p.483-492