Publications
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Author Title [ Year
] Filters: Author is Topf, Ana and First Letter Of Title is S [Clear All Filters]
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med 22, 1478-1488 (2020).
Severe neurodevelopmental disease caused by a homozygous TLK2 variant. Eur J Hum Genet 28, 383-387 (2020).
