E-LIB Suche - Ergebnisse für: Lamont, P.

1

O.11 Identification of a novel heterozygous DYSF variant in..:

Folland, C. ; Johnsen, R. ; Gomez, A. Botero...
Neuromuscular Disorders. 32 (2022) - p. S94-S95 , 2022

Link: https://doi.org/10.1016/..

2

Adult-onset spinal muscular atrophy with SMN deletion and u..:

Kang, A.R.W. ; Davis, M. ; Lamont, P....
Pathology. 53 (2021) - p. S29 , 2021

Link: https://doi.org/10.1016/..

3

APPLICATION OF NEXT GENERATION TECHNOLOGIES:

Scriba, C. ; Faiz, F. ; Lamont, P....
Neuromuscular Disorders. 31 (2021) - p. S145 , 2021

Link: https://doi.org/10.1016/..

4

EP.114A CMT family with AD and AR inheritance of a MME vari..:

Ravenscroft, G. ; Ong, R. ; Laing, N..
Neuromuscular Disorders. 29 (2019) - p. S201 , 2019

Link: https://doi.org/10.1016/..

5

Altered myogenesis and premature senescence underlie human ..:

Servián-Morilla, E. ; Cabrera-Serrano, M. ; Rivas-Infante, E....
Acta Neuropathologica Communications. 7 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

6

Variants in ACTG2 underlie a substantial number of Australa..:

Ravenscroft, G. ; Pannell, S. ; O'Grady, G....
Neurogastroenterology & Motility. 30 (2018) 9 - p. , 2018

Link: https://doi.org/10.1111/..

7

What lies within; Annelid polychaetes found in micro-habita..:

Narayanaswamy, Bhavani E. ; Rea, T. ; Serpetti, N..
Deep Sea Research Part II: Topical Studies in Oceanography. 137 (2017) - p. 157-165 , 2017

Link: https://doi.org/10.1016/..

8

Cardiac Manifestations of Myotonic Dystrophy - Complexities..:

Lee, F. ; Lamont, P. ; Powell, A...
Heart, Lung and Circulation. 26 (2017) - p. S305 , 2017

Link: https://doi.org/10.1016/..

9

A missense mutation in the putative sarcoplasmic reticulum ..:

Brais, B. ; Conte, T. ; Dicaire, M....
Neuromuscular Disorders. 26 (2016) - p. S95 , 2016

Link: https://doi.org/10.1016/..

10

Efficacy of next-generation sequencing in molecular diagnos..:

Beecroft, S. ; Ong, R. ; Yau, K....
Neuromuscular Disorders. 25 (2015) - p. S299-S300 , 2015

Link: https://doi.org/10.1016/..

11

Adult onset distal and proximal myopathy with complete opht..:

Cabrera-Serrano, M. ; Fabian, V.A. ; Boutilier, J....
Clinical Genetics. 88 (2015) 6 - p. 573-578 , 2015

Link: https://doi.org/10.1111/..

12

G.P.18:

Yau, K. ; Allcock, R. ; Mina, K....
Neuromuscular Disorders. 24 (2014) 9-10 - p. 799-800 , 2014

Link: https://doi.org/10.1016/..

13

G.P.35:

Oates, E.C. ; Yau, K.S. ; Charlton, A....
Neuromuscular Disorders. 24 (2014) 9-10 - p. 805 , 2014

Link: https://doi.org/10.1016/..

14

G.P.51:

Cabrera, M. ; Junckerstorff, R. ; Needham, M...
Neuromuscular Disorders. 24 (2014) 9-10 - p. 810 , 2014

Link: https://doi.org/10.1016/..

15

T.P.33:

Cabrera, M. ; Ghaoui, R. ; Mourdant, D....
Neuromuscular Disorders. 24 (2014) 9-10 - p. 874 , 2014

Link: https://doi.org/10.1016/..