PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Korean Journal of Pediatrics10.3345/kjp.2017.60.3.94201760394A compound heterozygous mutation in theFMO3gene: the first pediatric case causes fish odor syndrome in KoreaJi Hyun Kim, Sung Min Cho, Jong-Hee Chaehttps://synapse.koreamed.org/pdf/10.3345/kjp.2017.60.3.94, https://synapse.koreamed.org/DOIx.php?id=10.3345/kjp.2017.60.3.94, https://synapse.koreamed.org/DOIx.php?id=10.3345/kjp.2017.60.3.94
Pediatric Nephrology10.1007/s00467-005-2091-62005212190-193A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IVSachiko Kitanaka, Utako Sato, Kenichi Maruyama, Takashi Igarashihttp://link.springer.com/content/pdf/10.1007/s00467-005-2091-6.pdf, http://link.springer.com/article/10.1007/s00467-005-2091-6/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00467-005-2091-6
International Journal of Pediatric Otorhinolaryngology10.1016/j.ijporl.2012.07.035201276111633-1636Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndromeKaitian Chen, Wei Zhou, Ling Zong, Min Liu, Jintao Du, Hongyan Jianghttps://api.elsevier.com/content/article/PII:S0165587612004375?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0165587612004375?httpAccept=text/plain
Seminars in Pediatric Neurology10.1016/j.spen.2010.02.012201017162-64Compound Heterozygous Polymerase Gamma Gene Mutation in a Patient With Alpers DiseaseJavier F. Cardenas, R. Stephen Amatohttps://api.elsevier.com/content/article/PII:S1071909110000197?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1071909110000197?httpAccept=text/plain
Clinical Case Reports10.1002/ccr3.17192018691815-1817The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2Aamina Shakir, Alexandrea F. Wadley, Gabriela Purcarin, Klaas J. Wierengahttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fccr3.1719, http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1719/fullpdf
Journal of Medical Case Reports10.1186/1752-1947-8-328201481Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case reportRosalia D’Angelo, Concetta Scimone, Teresa Esposito, Daniele Bruschetta, Carmela Rinaldi, Alessia Ruggeri, Antonina Sidotihttp://link.springer.com/content/pdf/10.1186/1752-1947-8-328.pdf, http://link.springer.com/article/10.1186/1752-1947-8-328/fulltext.html, http://link.springer.com/content/pdf/10.1186/1752-1947-8-328
Human Mutation10.1002/1098-1004(200102)17:2<152::aid-humu10>3.0.co;2-#2001172152-153Cathepsin C gene: First compound heterozygous patient with Papillon-Lef�vre syndrome and a novel symptomless mutationLuis M. Allende, Miguel A. Garc�a-P�rez, Angel Moreno, Alfredo Corell, Miguel Carasol, Pedro Mart�nez-Canut, Antonio Arnaiz-Villenahttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F1098-1004(200102)17:2%3C152::AID-HUMU10%3E3.0.CO;2-#, https://onlinelibrary.wiley.com/doi/full/10.1002/1098-1004(200102)17:2%3C152::AID-HUMU10%3E3.0.CO;2-#
Neurology and Clinical Neuroscience10.1111/ncn3.1203320154134-35Magnetic resonance imaging findings in Leigh syndrome with a novel compound heterozygous SURF1 gene mutationYounhee Kim, Reiji Koide, Eiji Isozaki, Yu-ichi Gotohttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fncn3.12033
Molecular Genetics and Metabolism Reports10.1016/j.ymgmr.2017.07.00920171331-32Mitochondrial multiorgan disorder syndrome (MIMODS) due to a compound heterozygous mutation in the ACAD9 geneJosef Finsterer, Sinda Zarrouk-Mahjoubhttps://api.elsevier.com/content/article/PII:S2214426917301106?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S2214426917301106?httpAccept=text/plain
Asian-Australasian Journal of Animal Sciences10.5713/ajas.2012.125292013266795-803Regulation of Interferon-stimulated Gene (<italic>ISG</italic>)<italic>12</italic>, <italic>ISG15</italic>, and <italic>MX1</italic> and <italic>MX2</italic> by Conceptus Interferons (IFNTs) in Bovine Uterine Epithelial CellsMin-Su Kim, Kwan-Sik Min, Kazuhiko Imakawahttp://www.ajas.info/upload/pdf/ajas-26-6-795-6.pdf