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List of works by Laura Kasak

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

scientific article published on 03 September 2019

Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016

scientific article published on 01 September 2019

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

scientific article published on 01 August 2018

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

scientific article published on 03 September 2019

Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families

scientific article published on 27 March 2017

Extensive load of somatic CNVs in the human placenta

scientific article published on 10 February 2015

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives

scientific article published on 18 January 2020

NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance

scientific article published on 09 December 2020

Structural genomic variation as risk factor for idiopathic recurrent miscarriage

scientific article

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