Mario Cuk

Zagreb, 10000, Croatia

Last Updated: 09/26/2026

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Found 14 publications

Novel TBR1 c.1303C>T Variant Led to Diagnosis of Intellectual Developmental Disorder with Autism and Speech Delay: Application of Comprehensive Family-Based Whole-Genome Analysis.

Novel TBR1 c.1303C>T Variant Led to Diagnosis of Intellectual Developmental Disorder with Autism and Speech Delay: Application of Comprehensive Family-Based Whole-Genome Analysis.

Journal: Genes

Published: December 29, 2024

Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.

Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.

Journal: Genes

Published: September 10, 2024

Novel RAI1:c.2736delC Variant in Smith-Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis.

Novel RAI1:c.2736delC Variant in Smith-Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis.

Journal: Journal of personalized medicine

Published: July 23, 2024

Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis.

Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis.

Journal: The American journal of case reports

Published: July 12, 2024

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.

Journal: Genes

Published: June 19, 2024

Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer.

Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer.

Journal: Cancer genetics

Published: December 18, 2023

Fragility spinal fractures among cirrhotic liver transplant candidates in Croatia.

Fragility spinal fractures among cirrhotic liver transplant candidates in Croatia.

Journal: Injury

Published: July 27, 2023

First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism.

First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism.

Journal: Children (Basel, Switzerland)

Published: February 08, 2023

The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.

The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.

Journal: Klinische Padiatrie

Published: March 15, 2019

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

Journal: The Journal of allergy and clinical immunology

Published: August 25, 2017

Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function.

Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function.

Journal: The Journal of clinical investigation

Published: June 10, 2016

Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism.

Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism.

Journal: Cell metabolism

Published: January 14, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026