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Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

Autor: Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)

Abstract Background Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. Case Presentation We report a male infant born with multiple anomalies including bilateral dyspl

Externí odkaz: https://doaj.org/article/3b4a8130ebde489a9e0710d09cf2e8ab

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Cambrian Granitoids and Their Response to Multiple Metamorphism, Northern Veporic Unit, Western Carpathians

Autor: Igor Petrik, Marian Janák, Sergii Kurylo, Patrik Konečný, Tomáš Vaculovič

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2e39b5d250beb21e14484cfd8cbcbe55
https://doi.org/10.2139/ssrn.4401720

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Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

Autor: Sara Cherny, Erika Palmaer, Zöe Powis, Alexa Hart, Igor Petrik, Sha Tang, Carolyn Jones

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
BMC Medical Genetics

Background Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. Case Presentation We report a male infant born with multiple anomalies including bilateral dysplastic kid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd3349f93df3c4a6ba591bf1f9fa275f
http://link.springer.com/article/10.1186/s12881-017-0426-3

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