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Items: 4

1.

Recessive MYH7-related myopathy in two families.

Beecroft SJ, van de Locht M, de Winter JM, Ottenheijm CA, Sewry CA, Mohammed S, Ryan MM, Woodcock IR, Sanders L, Gooding R, Davis MR, Oates EC, Laing NG, Ravenscroft G, McLean CA, Jungbluth H.

Neuromuscul Disord. 2019 Jun;29(6):456-467. doi: 10.1016/j.nmd.2019.04.002. Epub 2019 Apr 12.

PMID:
31130376
2.

Genetics of neuromuscular fetal akinesia in the genomics era.

Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G.

J Med Genet. 2018 Aug;55(8):505-514. doi: 10.1136/jmedgenet-2018-105266. Epub 2018 Jun 29.

PMID:
29959180
3.

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Beecroft SJ, McLean CA, Delatycki MB, Koshy K, Yiu E, Haliloglu G, Orhan D, Lamont PJ, Davis MR, Laing NG, Ravenscroft G.

Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5.

PMID:
28554554
4.

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

Abdalla E, Ravenscroft G, Zayed L, Beecroft SJ, Laing NG.

Neuromuscul Disord. 2017 Jun;27(6):537-541. doi: 10.1016/j.nmd.2017.01.013. Epub 2017 Jan 18.

PMID:
28336317

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