Lista de obras - Tibor Kalmar - Dominio Público Uruguay

A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature

artículo científico publicado en 2019

Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia

artículo científico publicado en 2000

Childhood membranous nephropathy, circulating antibodies to the 58-kD TIN antigen, and anti-tubular basement membrane nephritis: an 11-year follow-up

scientific article published on 01 December 1998

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability

scientific article published on 04 September 2018

Comparison of maternal lineage and biogeographic analyses of ancient and modern Hungarian populations.

artículo científico publicado en 2007

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies

artículo científico publicado en 2018

Correction: Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians

artículo científico publicado en 2018

DAAM family members leading a novel path into formin research ⬇️

artículo científico publicado el 1 de septiembre de 2011

DAAM is required for thin filament formation and Sarcomerogenesis during muscle development in Drosophila

artículo científico publicado en 2014

Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.

artículo científico publicado en 2017

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders

artículo científico publicado en 2016

Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis

scientific article published on 29 October 2018

Functional studies of signaling pathways in peri-implantation development of the mouse embryo by RNAi

artículo científico publicado en 2005

High-Coverage Whole-Exome Sequencing Identifies Candidate Genes for Suicide in Victims with Major Depressive Disorder.

artículo científico publicado en 2017

Maternal Lineages from 10–11th Century Commoner Cemeteries of the Carpathian Basin

artículo científico publicado en 2021

Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians

artículo científico publicado en 2018

Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation

artículo científico publicado en 2017

Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.

artículo científico publicado en 2016

Partial RAG Deficiency in a Patient with Varicella Infection, Autoimmune Cytopenia, and Anti-Cytokine Antibodies.

artículo científico publicado en 2018

Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series

scientific article published on 02 September 2019

Reference values for resting and post exercise hemodynamic parameters in a 6-18 year old population

scientific article published on 21 January 2020

Regulated fluctuations in nanog expression mediate cell fate decisions in embryonic stem cells

artículo científico publicado en 2009

Revising mtDNA haplotypes of the ancient Hungarian conquerors with next generation sequencing

artículo científico publicado en 2017

Whole-exome sequencing data of suicide victims who had suffered from major depressive disorder

scientific article published on 05 February 2019

Wnt/Notch signalling and information processing during development.

artículo científico publicado en 2008

Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin

scientific article published on 12 November 2019

Lista de obras de Tibor Kalmar

A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature

Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia

Childhood membranous nephropathy, circulating antibodies to the 58-kD TIN antigen, and anti-tubular basement membrane nephritis: an 11-year follow-up

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability

Comparison of maternal lineage and biogeographic analyses of ancient and modern Hungarian populations.

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies

Correction: Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians

DAAM family members leading a novel path into formin research ⬇️

DAAM is required for thin filament formation and Sarcomerogenesis during muscle development in Drosophila

Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders

Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis

Functional studies of signaling pathways in peri-implantation development of the mouse embryo by RNAi

High-Coverage Whole-Exome Sequencing Identifies Candidate Genes for Suicide in Victims with Major Depressive Disorder.

Maternal Lineages from 10–11th Century Commoner Cemeteries of the Carpathian Basin

Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians

Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation

Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.

Partial RAG Deficiency in a Patient with Varicella Infection, Autoimmune Cytopenia, and Anti-Cytokine Antibodies.

Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series

Reference values for resting and post exercise hemodynamic parameters in a 6-18 year old population

Regulated fluctuations in nanog expression mediate cell fate decisions in embryonic stem cells

Revising mtDNA haplotypes of the ancient Hungarian conquerors with next generation sequencing

Whole-exome sequencing data of suicide victims who had suffered from major depressive disorder

Wnt/Notch signalling and information processing during development.

Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin