Dorota Asim-Garczarczyk

Science Park
Innsbruck, Austria

Last Updated: 09/26/2026

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Found 10 publications

Heart Transplant for Noncompaction Cardiomyopathy in NONO-Related Syndromic Intellectual Disability.

Heart Transplant for Noncompaction Cardiomyopathy in NONO-Related Syndromic Intellectual Disability.

Journal: Molecular genetics & genomic medicine

Published: March 07, 2026

Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.

Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.

Journal: Clinical genetics

Published: January 12, 2026

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings.

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings.

Journal: Genes

Published: June 17, 2025

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family.

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family.

Journal: Clinical genetics

Published: December 12, 2024

Congenital enteropathy caused by ezrin deficiency.

Congenital enteropathy caused by ezrin deficiency.

Journal: Human genetics

Published: November 11, 2024

Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.

Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.

Journal: Clinical genetics

Published: January 28, 2024

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.

Journal: American journal of ophthalmology

Published: July 02, 2023

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.

Journal: Genes

Published: February 28, 2023

Further delineation of SLC9A3-related congenital sodium diarrhea.

Further delineation of SLC9A3-related congenital sodium diarrhea.

Journal: Molecular genetics & genomic medicine

Published: January 29, 2022

Development of an in vitro potency assay for human skeletal muscle derived cells.

Development of an in vitro potency assay for human skeletal muscle derived cells.

Journal: PloS one

Published: April 18, 2017

Showing 1-10 of 10

Last Updated: 09/26/2026