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Researcher
Osama Essawi
Profile
Projects
Publications & Research Data
Activities
Awards & Distinctions
Patents
10
Results
2026
A rare 5’UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta : a roadmap for RNA therapeutic rescue
Osama Essawi
Tamara Jarayseh
Piyanoot Tapaneeyaphan
Manon Bouckaert
Sarah Naessens
Fransiska Malfait
Frauke Coppieters
Paul Coucke
A1
Journal Article
in
SCIENTIFIC REPORTS
2026
2021
More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
Tibbe Dhooge
Tim Van Damme
Delfien Syx
Laura Muiño Mosquera
Sheela Nampoothiri
Anil Radhakrishnan
Pelin O. Simsek-Kiper
Gulen E. Utine
Maryse Bonduelle
Isabelle Migeotte
et al.
A1
Journal Article
in
HUMAN MUTATION
2021
2020
More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
Tibbe Dhooge
Tim Van Damme
Delfien Syx
Laura Muiño Mosquera
Sheela Nampoothiri
Anil Radhakrishnan
Pelin Simsek-Kiper
Gülen Eda Utine
Maryse Bonduelle
Isabelle Migeotte
et al.
Preprint
2020
New insights on the clinical variability of FKBP10 mutations
Osama Essawi
Piyanoot Tapaneeyaphan
Sofie Symoens
Charlotte Gistelinck
Fransiska Malfait
David Eyre
Tamer Essawi
Bert Callewaert
Paul Coucke
A1
Journal Article
in
EUROPEAN JOURNAL OF MEDICAL GENETICS
2020
2019
Genetic analysis in consanguineous families from Palestine : a focus on cystic fibrosis and osteogenesis imperfecta
Osama Essawi
Paul Coucke
Bert Callewaert
Tamer Essawi
Dissertation
2019
The zebrafish as a model for fragile bone disorders
Jan Willem Bek
Hanna De Saffel
Osama Essawi
Adelbert De Clercq
Paul Eckhard Witten
Ann Huysseune
Juriaan Metz
Phil Salmon
Paul Coucke
Andy Willaert
C3
Conference
2019
The zebrafish as a model for recessive types of osteogenesis imperfecta
Jan Willem Bek
Hanna De Saffel
Osama Essawi
Adelbert De Clercq
Paul Eckhard Witten
Ann Huysseune
Phil Salmon
Paul Coucke
Andy Willaert
C3
Conference
2019
The zebrafish as a model for recessive types of Osteogenesis Imperfecta.
Jan Willem Bek
Hanna De Saffel
Osama Essawi
Adelbert De Clercq
Paul Eckhard Witten
Ann Huysseune
Phil Salmon
Paul Coucke
Andy Willaert
C3
Conference
2019
2018
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
Osama Essawi
Sofie Symoens
Maha Fannana
Mohammad Darwish
Mohammad Farraj
Andy Willaert
Tamer Essawi
Bert Callewaert
Anne De Paepe
Fransiska Malfait
et al.
A1
Journal Article
in
MOLECULAR GENETICS & GENOMIC MEDICINE
2018
2015
Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population
Osama Essawi
Mohammad A Farraj
Kim De Leeneer
Wouter Steyaert
Katia De Pauw
Anne De Paepe
Kathleen Claes
Tamer Essawi
Paul Coucke
A1
Journal Article
in
DISEASE MARKERS
2015