Author: "Hirsch, Cassandra M." - Searchworks@Jio Institute Digital Library Search Results

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Author: Abuhadra, Nour, Mukherjee, Sudipto, Al-Issa, Karam, Advani, Anjali, Makhoul, Ahed, Sekeres, Mikkael A., Nazha, Aziz, Adema, Vera, Hirsch, Cassandra M., Przychodzen, Bartlomiej, Awada, Hassan, and Maciejewski, Jaroslaw P.
Subjects: *MYELODYSPLASTIC syndromes, *DNA mutational analysis
Published: 2019
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Author: Yasunobu Nagata, Satoshi Narumi, Yihong Guan, Przychodzen, Bartlomiej P., Hirsch, Cassandra M., Hideki Makishima, Hirohito Shima, Mai Aly, Pastor, Victor, Kuzmanovic, Teodora, Radivoyevitch, Tomas, Adema, Vera, Awada, Hassan, Kenichi Yoshida, Li, Samuel, Sole, Francesc, Hanna, Rabi, Jha, Babal K., LaFramboise, Thomas, and Seishi Ogawa
Subjects: *INFANTS, *THROMBOCYTOPENIA, *MEGAKARYOCYTES, *MYELODYSPLASTIC syndromes, *BONE marrow
Abstract: The article presents a case study of a 9 month-old infant with familial thrombocytopenia with a SAMD9L variant, marrow normocellularity, and the absence of megakaryocytes. Topics discussed include to assess the effects of rare variants identified in adults with myelodysplastic syndromes (MDSs) and bone marrow failure (BMFs); tested the growth of HEK293 cells with inducible expression of SAMD9 or SAMD9L proteins; and mentions analyzation of copy number alterations (CNAs).
Published: 2018
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