PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Journal of Audiology and Otology10.7874/jao.2021.004442022263160-165Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard SyndromeAiza Fatima Raza, Dilli Raj Paudel, Kavassery Venkateswaran Nishahttp://ejao.org/upload/pdf/jao-2021-00444.pdf, http://ejao.org/journal/view.php?doi=10.7874/jao.2021.00444, http://ejao.org/upload/pdf/jao-2021-00444.pdf
Ultrasound in Obstetrics and Gynecology10.1046/j.1469-0705.1999.13060450.x1999136450-452Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosisR. Auslander, O. Nevo, R. Diukman, E. Morrad, M. Bardicef, H. Abramovicihttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1469-0705.1999.13060450.x, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1469-0705.1999.13060450.x, https://onlinelibrary.wiley.com/doi/full/10.1046/j.1469-0705.1999.13060450.x
Encyclopedia of Genetics, Genomics, Proteomics and Informatics10.1007/978-1-4020-6754-9_889220081047-1048Johanson-Blizzard Syndrome (JBS, 15q14-q21.1)http://link.springer.com/content/pdf/10.1007/978-1-4020-6754-9_8892
Archives de Pédiatrie10.1016/s0929-693x(03)00178-72003106553Syndrome de Johanson-BlizzardJ.N Mcheikhttps://api.elsevier.com/content/article/PII:S0929693X03001787?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0929693X03001787?httpAccept=text/plain
Archives de Pédiatrie10.1016/s0929-693x(03)00176-32003106553Syndrome de Johanson-BlizzardJ Sarleshttps://api.elsevier.com/content/article/PII:S0929693X03001763?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0929693X03001763?httpAccept=text/plain
American Journal of Medical Genetics Part A10.1002/ajmg.a.37630201617061495-1501Oblique facial clefts in Johanson-Blizzard syndromeJorge Román Corona-Rivera, Eugenio Zapata-Aldana, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Christian Peña-Padilla, Elizabeth Solis-Hernández, Celina Guzmán, Erick Richmond, Christian Zahl, Martin Zenker, Maja Sukalohttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.37630, http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37630/fullpdf
Pediatric Anesthesia10.1046/j.1460-9592.2003.00957.x200313172-75Perioperative care of the child with the Johanson-Blizzard syndromeChristopher R. Fichter, Garry A. Johnson, Stephen R. Braddock, Joseph D. Tobiashttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1460-9592.2003.00957.x, http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1460-9592.2003.00957.x/fullpdf
International Journal of Pediatric Otorhinolaryngology10.1016/j.ijporl.2017.02.00120179569-71Bilateral cochlear implantation in a child with Johanson Blizzard SyndromeMeredith A. Holcomb, Habib G. Rizk, Nevitte S. Morris, Ted A. Meyerhttps://api.elsevier.com/content/article/PII:S0165587617300617?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0165587617300617?httpAccept=text/plain
Clinical Genetics10.1111/j.1399-0004.1993.tb04458.x199343298-100A case of Johanson-Blizzard syndrome complicated by diabetes mellitusKanji Nagashima, Hideki Yagi, Takayoshi Kuroumehttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1993.tb04458.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1993.tb04458.x/fullpdf
Pathology10.1097/01268031-200941001-0017820094174Johanson-blizzard syndrome: pathophysiology of ubiquitin ligase deficiency in pancreatic acinar cellsB. Krüger, J. Mayerle, M. Zenker, M.M. Lerchhttps://api.elsevier.com/content/article/PII:S0031302516322449?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0031302516322449?httpAccept=text/plain