Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders

A. Maugeri; E. Voorhoeve; N. M. Appelman-Dijkstra; A. T. H. van Dijk; F. S. van Dijk; E. M. W. Eekhoff; M. W. Elting; A. van Haeringen; A. Harsevoort; M. Isrie; G. J. M. Janus; R. T. de Jongh; J. M. van de Kamp; M. C. van Maarle; C. L. M. Marcelis; M. E. H. Simon; S. Simsek; C. T. R. M. Stumpel; P. A. Terhal; H. E. Veenstra-Knol; M. C. Zillikens; E. J. Meijers-Heijboer; E. A. Sistermans; M. M. Weiss; G. Pals; D. Micha

Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders

A. Maugeri, E. Voorhoeve, N. M. Appelman-Dijkstra, A. T. H. van Dijk, F. S. van Dijk, E. M. W. Eekhoff, M. W. Elting, A. van Haeringen, A. Harsevoort, M. Isrie, G. J. M. Janus, R. T. de Jongh, J. M. van de Kamp, M. C. van Maarle, C. L. M. Marcelis, M. E. H. Simon, S. Simsek, C. T. R. M. Stumpel, P. A. Terhal, H. E. Veenstra-KnolM. C. Zillikens, E. J. Meijers-Heijboer, E. A. Sistermans, M. M. Weiss, G. Pals, D. Micha

Research output: Contribution to journal › Meeting Abstract › Academic

Original language	English
Pages (from-to)	1293-1293
Journal	European journal of human genetics
Volume	27
Publication status	Published - Oct 2019

Cite this

Maugeri, A., Voorhoeve, E., Appelman-Dijkstra, N. M., van Dijk, A. T. H., van Dijk, F. S., Eekhoff, E. M. W., Elting, M. W., van Haeringen, A., Harsevoort, A., Isrie, M., Janus, G. J. M., de Jongh, R. T., van de Kamp, J. M., van Maarle, M. C., Marcelis, C. L. M., Simon, M. E. H., Simsek, S., Stumpel, C. T. R. M., Terhal, P. A., ... Micha, D. (2019). Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders. European journal of human genetics, 27, 1293-1293.

@article{37c40b84bb0d4758ace5ca059a6e7eb4,

title = "Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders",

author = "A. Maugeri and E. Voorhoeve and Appelman-Dijkstra, {N. M.} and {van Dijk}, {A. T. H.} and {van Dijk}, {F. S.} and Eekhoff, {E. M. W.} and Elting, {M. W.} and {van Haeringen}, A. and A. Harsevoort and M. Isrie and Janus, {G. J. M.} and {de Jongh}, {R. T.} and {van de Kamp}, {J. M.} and {van Maarle}, {M. C.} and Marcelis, {C. L. M.} and Simon, {M. E. H.} and S. Simsek and Stumpel, {C. T. R. M.} and Terhal, {P. A.} and Veenstra-Knol, {H. E.} and Zillikens, {M. C.} and Meijers-Heijboer, {E. J.} and Sistermans, {E. A.} and Weiss, {M. M.} and G. Pals and D. Micha",

year = "2019",

month = oct,

language = "English",

volume = "27",

pages = "1293--1293",

journal = "European journal of human genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

}

Maugeri, A, Voorhoeve, E, Appelman-Dijkstra, NM, van Dijk, ATH, van Dijk, FS, Eekhoff, EMW , Elting, MW, van Haeringen, A, Harsevoort, A, Isrie, M, Janus, GJM, de Jongh, RT , van de Kamp, JM , van Maarle, MC, Marcelis, CLM, Simon, MEH, Simsek, S, Stumpel, CTRM, Terhal, PA, Veenstra-Knol, HE, Zillikens, MC, Meijers-Heijboer, EJ , Sistermans, EA, Weiss, MM, Pals, G & Micha, D 2019, 'Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders', European journal of human genetics, vol. 27, pp. 1293-1293.

Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders. / Maugeri, A.; Voorhoeve, E.; Appelman-Dijkstra, N. M. et al.
In: European journal of human genetics, Vol. 27, 10.2019, p. 1293-1293.

Research output: Contribution to journal › Meeting Abstract › Academic

TY - JOUR

T1 - Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders

AU - Maugeri, A.

AU - Voorhoeve, E.

AU - Appelman-Dijkstra, N. M.

AU - van Dijk, A. T. H.

AU - van Dijk, F. S.

AU - Eekhoff, E. M. W.

AU - Elting, M. W.

AU - van Haeringen, A.

AU - Harsevoort, A.

AU - Isrie, M.

AU - Janus, G. J. M.

AU - de Jongh, R. T.

AU - van de Kamp, J. M.

AU - van Maarle, M. C.

AU - Marcelis, C. L. M.

AU - Simon, M. E. H.

AU - Simsek, S.

AU - Stumpel, C. T. R. M.

AU - Terhal, P. A.

AU - Veenstra-Knol, H. E.

AU - Zillikens, M. C.

AU - Meijers-Heijboer, E. J.

AU - Sistermans, E. A.

AU - Weiss, M. M.

AU - Pals, G.

AU - Micha, D.

PY - 2019/10

Y1 - 2019/10

M3 - Meeting Abstract

SN - 1018-4813

VL - 27

SP - 1293

EP - 1293

JO - European journal of human genetics

JF - European journal of human genetics

ER -