Jozef Hertecant - Concepedia

Author

Jozef Hertecant

Also Known As

C. Berrios, Hertecant, Jozef, J Hertecant, J. Hertecant, Joseph Hertecant, Jozef Hertecant, Jozef L Hertecant, Jozef L. Hertecant, Jozef L. Hertecant, Mungan, Neslihan Ö

Publications

2.4K

Citations

H-Index

Concepts

All Affiliations

Tawam Hospital United Arab Emirates University King Faisal Specialist Hospital & Research Centre Baylor College of Medicine University College London

About

Jozef Hertecant is an author at Tawam Hospital specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	24	1.1K
2	Health Sciences	3	3	101
3	Natural Sciences	3	3	192
4	Public Health	1	1	22
5	Social Sciences	1	1	19

Jozef Hertecant

Publications

2.1K

Citations

H-Index

Page 1

	Year	Citations
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici, Nature Genetics Cell AutophagyMendelian DisorderAutoimmune DiseaseGenetic DisorderGenetics	2012	272
Chylomicronemia With Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects Remco Franssen, Stephen G. Young, Frank Peelman, Circulation Cardiovascular Genetics	2010	106
Mutations in<i>COA6</i>cause Cytochrome<i>c</i>Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy Fabian Baertling, Mariël A.M. van den Brand, Jozef Hertecant, Human Mutation GeneticsMolecular BiologyRedox BiologyOxidative StressComplex Iv	2014	81
Megalencephalic leukoencephalopathy with subcortical cysts Eline M. Hamilton, Pınar Tektürk, Fia Cialdella, Neurology	2018	81
<i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome Sagar J. Pathak, James L. Mueller, Kevin Okamoto, Human Mutation	2018	72
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Acta Neuropathologica	2019	68
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates Fatma Al‐Jasmi, Nafisa Tawfig, Ans Berniah, JIMD Reports	2012	66
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome Sara Cuvertino, Verity Hartill, Alice Colyer, Genetics in Medicine	2020	64
<i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai, Human Mutation GeneticsPathologyMolecular BiologyMolecular GeneticsMolecular Research	2017	63
Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia Jennifer E. Below, Dawn Earl, Kathryn M. Shively, The American Journal of Human Genetics Genome InstabilityWhole-genome Analysis RevealsSomatic VariantGenetic DisorderGenetics	2012	62

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