Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Syndrome and FERMT1[original query] |
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Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome. JAAD case reports 2019 12 5 (12): 1061-1064. Zheng Bo-Wen, Zhu Xian-Zhong, Lan Yu, Ma Jian-Chi, Li Xi-Qi |
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes. Clinical and translational gastroenterology 2020 Feb 11 (2): e00129. Ashton James J, Mossotto Enrico, Stafford Imogen S, Haggarty Rachel, Coelho Tracy A F, Batra Akshay, Afzal Nadeem A, Mort Matthew, Bunyan David, Beattie Robert Mark, Ennis Sar |
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort. European journal of human genetics : EJHG 2022 11 . Garret Philippine, Chevarin Martin, Vitobello Antonio, Verdez Simon, Fournier Cyril, Verloes Alain, Tisserant Emilie, Vabres Pierre, Prevel Orlane, Philippe Christophe, Denommé-Pichon Anne-Sophie, Bruel Ange-Line, Mau-Them Frédéric Tran, Safraou Hana, Boughalem Aïcha, Costa Jean-Marc, Trost Detlef, Thauvin-Robinet Christel, Faivre Laurence, Duffourd Yann |
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- Page last updated:Apr 22, 2024
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