Eva Al Taji - Concepedia

Author

Eva Al Taji

Also Known As

E. Al Taji, Eva Al Taji, Hans K. Åkerblom, L Robson, Laurie Robson

Publications

369

Citations

H-Index

Concepts

All Affiliations

Eva Al Taji is an author at Charles University specializing in neuropathology, neurogenetics, and inherited metabolic disease.

#	Concept	H-Index	Publications	Citations
1	Medicine	1	1	39
2	Inherited Metabolic Disease	1	1	39
3	Neuropathology	1	1	39
4	Neurogenetics	1	1	39

Eva Al Taji

Publications

180

Citations

H-Index

Page 1

	Year	Citations
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism Eva Al Taji, Heike Biebermann, Z Límanová, European Journal of Endocrinology	2007	105
Pendred syndrome among patients with congenital hypothyroidism detected by neonatalscreening: identification of two novel PDS/SLC26A4 mutations Karolína Banghová, Eva Al Taji, Ondřej Cinek, European Journal of Pediatrics Mendelian DisorderGenetic DisorderInherited Metabolic DiseaseCongenital HypothyroidismNeuropathology	2007	39
Epidemiology of rare diseases detected by newborn screening in the Czech Republic Jan David, Petr Chrastina, Karolína Pešková, Central European Journal of Public Health	2019	26
Use of vitamin D supplements during infancy in an international feeding trial Eveliina Lehtonen, Anne Ormisson, Anita Nucci, Public Health Nutrition	2013	10

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