Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome
Angwin, C, Zschocke, J, Kammin, T, Björck, E, Bowen, J, Brady, A F, Burns, H, Cummings, C, Gardner, R, Ghali, N, Gröbner, R, Harris, J, Higgins, M, Johnson, D, Lepperdinger, U, Milnes, D, Pope, F M, Sehra, R, Kapferer-Seebacher, I, Sobey, G, Van Dijk, F S
Published in Frontiers in genetics (2023)
Published in Frontiers in genetics (2023)
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Journal Article
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
Van Dijk, F.S., Sillence, D.O.
Published in American journal of medical genetics. Part A (01.06.2014)
Published in American journal of medical genetics. Part A (01.06.2014)
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Journal Article
Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations
Angwin, C., Ghali, N., Baker, D., Brady, A.F., Pope, F.M., Vandersteen, A., Wagner, B., Ferguson, D.J.P., Dijk, F.S
Published in British journal of dermatology (1951) (01.03.2020)
Published in British journal of dermatology (1951) (01.03.2020)
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Journal Article
Compound-heterozygous Marfan syndrome
Van Dijk, F.S, Hamel, B.C, Hilhorst-Hofstee, Y, Mulder, B.J.M, Timmermans, J, Pals, G, Cobben, J.M
Published in European journal of medical genetics (01.01.2009)
Published in European journal of medical genetics (01.01.2009)
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Journal Article
Osteogenesis Imperfecta: A Review with Clinical Examples
van Dijk, F.S., Cobben, J.M., Kariminejad, A., Maugeri, A., Nikkels, P.G.J., van Rijn, R.R., Pals, G.
Published in Molecular syndromology (01.12.2011)
Published in Molecular syndromology (01.12.2011)
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Journal Article
Classification of Osteogenesis Imperfecta revisited
Van Dijk, F.S, Pals, G, Van Rijn, R.R, Nikkels, P.G.J, Cobben, J.M
Published in European journal of medical genetics (01.01.2010)
Published in European journal of medical genetics (01.01.2010)
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Journal Article
A de novo mutation in ZMYND11 , a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability
Cobben, J.M, Weiss, M.M, van Dijk, F.S, De Reuver, R, de Kruiff, C, Pondaag, W, Hennekam, R.C, Yntema, H.G
Published in European journal of medical genetics (01.11.2014)
Published in European journal of medical genetics (01.11.2014)
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Journal Article
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient
Setijowati, E.D, van Dijk, F.S, Cobben, J.M, van Rijn, R.R, Sistermans, E.A, Faradz, S.M.H, Kawiyana, S, Pals, G
Published in European journal of medical genetics (01.01.2012)
Published in European journal of medical genetics (01.01.2012)
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Journal Article
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features
Van Dijk, F.S, van Thuijl, H.F, Wermeskerken, A, van Rijn, R.R, Cobben, J.M
Published in European journal of medical genetics (01.05.2011)
Published in European journal of medical genetics (01.05.2011)
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Journal Article
Rendu-Osler-Weber disease: update of medical and dental considerations
te Veldhuis, E.C., DDS, te Veldhuis, A.H., DDS, van Dijk, F.S., MD, Kwee, M.L., MD, van Hagen, J.M., MD, PhD, Baart, J.A., DDS, van der Waal, I., DDS, PhD
Published in Oral surgery, oral medicine, oral pathology, oral radiology and endodontics (01.02.2008)
Published in Oral surgery, oral medicine, oral pathology, oral radiology and endodontics (01.02.2008)
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Journal Article
A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient
Setijowati, E.D., van Dijk, F.S., Cobben, J.M., van Rijn, R.R., Sistermans, E.A., Faradz, S.M.H., Kawiyana, S., Pals, G.
Published in European journal of medical genetics (01.01.2012)
Published in European journal of medical genetics (01.01.2012)
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Journal Article
Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements
Scheres, Luuk J.J., van Dijk, Fleur S., Harsevoort, Arjan J., van Dijk, Atty T.H., Dommisse, Anne Marieke, Janus, Guus J.M., Franken, Anton A.M.
Published in Bone Reports (01.06.2018)
Published in Bone Reports (01.06.2018)
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Journal Article
Complete COL1A1 allele deletions in osteogenesis imperfecta
van Dijk, Fleur S., Huizer, Margriet, Kariminejad, Ariana, Marcelis, Carlo L., Plomp, Astrid S., Terhal, Paulien A., Meijers-Heijboer, Hanne, Weiss, Marjan M., van Rijn, Rick R., Cobben, Jan M., Pals, Gerard
Published in Genetics in medicine (01.11.2010)
Published in Genetics in medicine (01.11.2010)
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