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Publications by Bulent Uyar

p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease

American Journal of Case Reports
Medicine
2016English

Related publications

Cognitive Impairment and Fabry Disease: A Case Report With Mutation S126G

Neuropsychological Trends
Molecular NeurosciencePhysiological PsychologyNeuropsychologyCellular
2016English

POMGnT1 Mutation and Phenotypic Spectrum in Muscle-Eye-Brain Disease

Journal of Medical Genetics
Genetics
2004English

Fabry Disease

Revista de la Facultad de Medicina Humana
2018English

Fabry Disease

Archives of Dermatology
2004English

Inter-Familial and Intra-Familial Phenotypic Variability in Three Sicilian Families With Anderson-Fabry Disease

Oncotarget
Oncology
2017English

General Anesthesia and Fabry Disease

A & A Case Reports
2017English

Fabry Disease and Early Stroke

Stroke Research and Treatment
Neurology
2011English

Anderson-Fabry Disease.

BMJ
1988English

Natural Course of Fabry Disease With the P. Arg227Ter (p.R227*) Mutation in Finland: Fast Study

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

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