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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Schinzel Giedion Syndrome[original query]
Somatic SETBP1 mutations in myeloid malignancies.
Nature genetics 2013 Aug 45 (8): 942-6.
Makishima Hideki, Yoshida Kenichi, Nguyen Nhu, Przychodzen Bartlomiej, Sanada Masashi, Okuno Yusuke, Ng Kwok Peng, Gudmundsson Kristbjorn O, Vishwakarma Bandana A, Jerez Andres, Gomez-Segui Ines, Takahashi Mariko, Shiraishi Yuichi, Nagata Yasunobu, Guinta Kathryn, Mori Hiraku, Sekeres Mikkael A, Chiba Kenichi, Tanaka Hiroko, Muramatsu Hideki, Sakaguchi Hirotoshi, Paquette Ronald L, McDevitt Michael A, Kojima Seiji, Saunthararajah Yogen, Miyano Satoru, Shih Lee-Yung, Du Yang, Ogawa Seishi, Maciejewski Jaroslaw
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".
Frontiers in neurology 2021 1 11 593446.
Leonardi Emanuela, Bettella Elisa, Pelizza Maria Federica, Aspromonte Maria Cristina, Polli Roberta, Boniver Clementina, Sartori Stefano, Milani Donatella, Murgia Alessand
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