Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene

by Tatiana Markova, Peter Sparber, Artem Borovikov, Tatiana Nagornova, Elena Dadali
Published 2021-03-01

Identification of a Novel <i>de Novo</i> Variant in the <i>SYT2</i> Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy

by Olga Mironovich, Elena Dadali, Sergey Malmberg, Tatyana Markova, Oxana Ryzhkova, Aleksander Poliakov
Published 2020-10-01

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

by Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov
Published 2020-10-01