Helena Jaklič

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss

F. Fogolari, B. Peterlin, D. Neubauer, 2022, Neurology: Genetics.

Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage

B. Peterlin, L. Lovrečić, N. Pereza, 2019, Molecular genetics & genomic medicine.

Association between male infertility and genetic variability at the PON1/2 and GSTM1/T1 gene loci.

B. Peterlin, M. Volk, B. Zorn, 2011, Reproductive biomedicine online.

Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2

B. Koritnik, B. Peterlin, A. Maver, 2022, Neurology: Genetics.

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys

B. Peterlin, A. Maver, M. Hawlina, 2021, International journal of molecular sciences.

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy

B. Peterlin, A. Kovanda, L. Leonardis, 2023, medRxiv.

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study

A. Maver, O. Miljanović, Helena Jaklič, 2023, PloS one.