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Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L
Documents Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9LDeborah Nickerson,2 Thalia Papayannopoulou,4 Thomas D. Bird,1,7,8,* and Wendy H. Raskind7,8,9,* Ataxia-pancytopenia

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
Documents SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignanciesREVIEW ARTICLE Myelodysplastic syndrome SAMD9 and SAMD9L in inherited predisposition

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7
Documents Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

2009©2018 Ferrata Storti Foundation Correspondence: [email protected] Check the online version for the most updated information on this article,

New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
Documents New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation....

New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)Alicia Martinez-Piñeiro,4 Raidili Cristina Mateo-Montero,2

Novel features in a family with SAMD9 mutation
Documents Novel features in a family with SAMD9 mutation

In trans early mosaic mutational escape and novel phenotypic features of germline SAMD9 mutation Catherine Hockings1,2, Satyen Gohil1,2, Robin Dowse3, Yvette Hoade1, Marc

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