Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic

D. Ardicli; K. Nowak; G. Haliloglu; H. Goullee; M. Davis; B. Talim; N. Laing; H. Topaloglu

doi:10.1016/j.nmd.2017.06.371

Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic

D. Ardicli, K. Nowak, G. Haliloglu, H. Goullee, M. Davis, B. Talim, N. Laing, H. Topaloglu

Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review

Original language	English
Pages (from-to)	S196-S196
Number of pages	1
Journal	Neuromuscular Disorders
Volume	27
DOIs	https://doi.org/10.1016/j.nmd.2017.06.371
Publication status	Published - Oct 2017
Event	22nd International Annual Congress of the World-Muscle-Society (WMS) - Saint Malo, France Duration: 3 Oct 2017 → 7 Oct 2017

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10.1016/j.nmd.2017.06.371

Cite this

Ardicli, D., Nowak, K., Haliloglu, G., Goullee, H., Davis, M., Talim, B., Laing, N., & Topaloglu, H. (2017). Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic. Neuromuscular Disorders, 27, S196-S196. https://doi.org/10.1016/j.nmd.2017.06.371

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title = "Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic",

author = "D. Ardicli and K. Nowak and G. Haliloglu and H. Goullee and M. Davis and B. Talim and N. Laing and H. Topaloglu",

year = "2017",

month = oct,

doi = "10.1016/j.nmd.2017.06.371",

language = "English",

volume = "27",

pages = "S196--S196",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Pergamon",

note = "22nd International Annual Congress of the World-Muscle-Society (WMS) ; Conference date: 03-10-2017 Through 07-10-2017",

}

Ardicli, D, Nowak, K, Haliloglu, G, Goullee, H, Davis, M, Talim, B, Laing, N & Topaloglu, H 2017, 'Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic', Neuromuscular Disorders, vol. 27, pp. S196-S196. https://doi.org/10.1016/j.nmd.2017.06.371

Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic. / Ardicli, D.; Nowak, K.; Haliloglu, G. et al.
In: Neuromuscular Disorders, Vol. 27, 10.2017, p. S196-S196.

Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review

TY - JOUR

T1 - Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic

AU - Ardicli, D.

AU - Nowak, K.

AU - Haliloglu, G.

AU - Goullee, H.

AU - Davis, M.

AU - Talim, B.

AU - Laing, N.

AU - Topaloglu, H.

PY - 2017/10

Y1 - 2017/10

U2 - 10.1016/j.nmd.2017.06.371

DO - 10.1016/j.nmd.2017.06.371

M3 - Abstract/Meeting Abstract

SN - 0960-8966

VL - 27

SP - S196-S196

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

T2 - 22nd International Annual Congress of the World-Muscle-Society (WMS)

Y2 - 3 October 2017 through 7 October 2017

ER -