Elżbieta Ciara

发表

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Katrien Stouffs, Melanie Bahlo, Holger Prokisch, 2016, American journal of human genetics.

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Aleksandra Jezela-Stanek, A. Latos-Bieleńska, A. Jezela-Stanek, 2010, Journal of Inherited Metabolic Disease.