Concepedia
Statistics
Publications
5
Citations
156
H-Index
Active since
2013
Affiliations
University Hospital Cologne(Current)
Institute of Human Genetics
National Research Centre
Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases
King Khaled Eye Specialist Hospital
Hanno J. Bolz is an author at University Hospital Cologne specializing in human genetics, genetic disorders, and genetics.
Publications per year
2013–2017
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation
Maha S. Zaki, Michaela Thoenes, Amit Kawalia et al. · Frontiers in Genetics · 2017 · 49 citations · Full text
Life Sciences, Genetics, Infectious Diseases +17
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations
Solaf M. Elsayed, Raoul Heller, Michaela Thoenes et al. · European Journal of Human Genetics · 2013 · 45 citations
Life Sciences, Genetics, Molecular Genetics +9
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay
Arif O. Khan, Saleh Al-Mesfer, Shahira Al-Turkmani et al. · British Journal of Ophthalmology · 2014 · 25 citations
Medicine, Genetics, Pediatrics +17
A de novo <scp><i>GLI</i></scp><i>3</i> mutation in a patient with acrocallosal syndrome
Leonie Speksnijder, Titia E. Cohen‐Overbeek, Maarten F. C. M. Knapen et al. · American Journal of Medical Genetics Part A · 2013 · 24 citations
Medicine, Molecular Genetics, Molecular Medicine +16
Phenotypic observations in “hypotrichosis with juvenile macular dystrophy” (recessive<i>CDH3</i>mutations)
Arif O. Khan, Hanno J. Bolz · Ophthalmic Genetics · 2016 · 13 citations
Medicine, Dermatology, Genetics +12
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