Ghent University Academic Bibliography

Journal Article
A1
open access

The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review

Marlies Colman (UGent) , Tim Van Damme (UGent) , Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx (UGent) , Brecht Guillemyn (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2019) ORPHANET JOURNAL OF RARE DISEASES. 14.

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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

Tim Van Damme (UGent) , Xiaomeng Pang, Brecht Guillemyn (UGent) , Sandrine Gulberti, Delfien Syx (UGent) , Riet De Rycke (UGent) , Olivier Kaye, Christine E. M. de Die-Smulders, Rolph Pfundt, Ariana Kariminejad, et al.

(2018) HUMAN MOLECULAR GENETICS. 27(20). p.3475-3487

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Journal Article
A1
open access

Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families

Osama Essawi (UGent) , Sofie Symoens (UGent) , Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert (UGent) , Tamer Essawi, Bert Callewaert (UGent) , Anne De Paepe (UGent) , Fransiska Malfait (UGent) , et al.

(2018) MOLECULAR GENETICS & GENOMIC MEDICINE. 6(1). p.15-26

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Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia

Sofie Symoens (UGent) , Aileen M Barnes, Charlotte Gistelinck (UGent) , Fransiska Malfait (UGent) , Brecht Guillemyn (UGent) , Wouter Steyaert (UGent) , Delfien Syx (UGent) , Sanne D'hondt (UGent) , Martine Biervliet, Julie De Backer (UGent) , et al.

(2015) AMERICAN JOURNAL OF HUMAN GENETICS. 97(4). p.521-534

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Brian P Kelley, Fransiska Malfait (UGent) , Luisa Bonafe, Dustin Baldridge, Erica Homan, Sofie Symoens (UGent) , Andy Willaert (UGent) , Nursel Elcioglu, Lionel Van Maldergem, Christine Verellen-Dumoulin, et al.

(2011) JOURNAL OF BONE AND MINERAL RESEARCH. 26(3). p.666-672

Academic Bibliography

The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families

Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

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