|
Leader
|
|
|
00000nz a2200037n 45 0 |
|
001
|
|
|
WKP|Q114313920
(VIAF cluster)
(Authority/Source Record)
|
|
003
|
|
|
WKP |
|
005
|
|
|
20241120235838.0 |
|
008
|
|
|
241120nneanz||abbn n and d |
|
035
|
|
|
‡a
(WKP)Q114313920
|
|
035
|
|
|
‡a
(OCoLC)Q114313920
|
|
100
|
0 |
|
‡a
Isabella Torrente
‡c
researcher
‡9
en
|
|
375
|
|
|
‡a
2
‡2
iso5218
|
|
670
|
|
|
‡a
Author's A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy
|
|
670
|
|
|
‡a
Author's Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion
|
|
670
|
|
|
‡a
Author's Functional analysis of splicing mutations in exon 7 of NF1 gene
|
|
670
|
|
|
‡a
Author's Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita
|
|
919
|
|
|
‡a
functionalanalysisofsplicingmutationsinexon7ofnf1gene
‡A
Functional analysis of splicing mutations in exon 7 of NF1 gene
‡9
1
|
|
919
|
|
|
‡a
novelmutationr271xinthemyotubularingenecausesaseveremiotubularmyopathy
‡A
A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy
‡9
1
|
|
919
|
|
|
‡a
familialspinalneurofibromatosisduetoamultiexonicnf1genedeletion
‡A
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion
‡9
1
|
|
919
|
|
|
‡a
lowraterepetitivenervestimulationprotocolinanitaliancohortofpatientsaffectedbyrecessivemyotoniacongenita
‡A
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita
‡9
1
|
|
946
|
|
|
‡a
a
‡9
1
|
|
996
|
|
|
‡2
ISNI|0000000056587032
|
|
996
|
|
|
‡2
DNB|1056466863
|
|
996
|
|
|
‡2
SUDOC|070017794
|
|
996
|
|
|
‡2
BNE|XX1723941
|
|
996
|
|
|
‡2
DNB|136404936
|
|
996
|
|
|
‡2
BNCHL|10000000000000000084569
|
|
996
|
|
|
‡2
BNE|XX1300622
|
|
997
|
|
|
‡a
0 0 lived 0 0
‡9
1
|
