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Author/Creator Reboun, Martin

1. Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. Issue 1 (15th November 2019)

Authors:
Majer, Filip; Kousal, Bohdan; Dusek, Petr; Piherova, Lenka; Reboun, Martin; Mihalova, Romana; Gurka, Jiri; Krebsova, Alice; Vlaskova, Hana; Dvorakova, Lenka; Krihova, Jana; Liskova, Petra; Kmoch, Stanislav; Kalina, Tomas; Kubanek, Milos; Sikora, Jakub
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 1(2020)
Page Start:
219
Record Type:
Journal Article
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2. LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?. Issue 11 (8th September 2018)

Authors:
Majer, Filip; Piherova, Lenka; Reboun, Martin; Stara, Veronika; Pelak, Ondrej; Norambuena, Patricia; Stranecky, Viktor; Krebsova, Alice; Vlaskova, Hana; Dvorakova, Lenka; Kmoch, Stanislav; Kalina, Tomas; Kubanek, Milos; Sikora, Jakub
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2430
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

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