5 results on '"Guergueltcheva, V."'
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2. THE CLINICAL PHENOTYPIC SPECTRUM OF GFPT1 ASSOCIATED CONGENITAL MYASTHENIC SYNDROME
3. Congenital cataracts facial dysmorphism neurophathy syndrome - Clinical, neuropathological and genetic investigation
4. Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement
5. Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology
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