96 Homozygous ABCG8 mutation in a 14-year-old boy with sitosterolemia release_ewcplxiyczcpne25nxjqeo6f24

by Ana-Maria Meašić, Adriana Bobinec, Ivona Sansović, Ljubica Boban, Ana Močić Pavić, Silvija Pušeljić, Ingeborg Barišić

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95 CDHR1 and RGR mutations in two patients with retinitis pigmentosa
A Bobinec, A Meašić, I Sansović, M Kero, L Boban, I Barišić
2021   Abstracts  unpublished
doi:10.1136/archdischild-2021-europaediatrics.95 
web.archive.org [PDF]

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94 Clinical and Genetic Spectrum of Dystroglycanopathy Due to POMGNT1 Mutations in Russian Patients
OB Kondakova, KV Savostyanov, KA Kazakova, AA Pushkov, AA Lyalina, YI Davidova, OS Kuprianova, DI Grebenkin
2021   Abstracts  unpublished
doi:10.1136/archdischild-2021-europaediatrics.94 
web.archive.org [PDF]