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Dofash, L.
7  Ergebnisse:
Personensuche X
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1

P.01 A KLHL40 3′UTR splice-altering variant causes milder N..:

Dofash, L. ; Monahan, G. ; Servián-Morilla, E....
Neuromuscular Disorders.  32 (2022)  - p. S45 , 2022
Link: https://doi.org/10.1016/..
 
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CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES:

Dofash, L. ; Faiz, F. ; Servián-Morilla, E....
Neuromuscular Disorders.  31 (2021)  - p. S60 , 2021
Link: https://doi.org/10.1016/..
 
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3

Three novel missense variants in two families with JAG2-ass..:

Dofash, Lein ; Lyengar, Krishnan ; Pereira, Nolette...
Neuromuscular Disorders.  , 2024
Link: https://doi.org/10.1016/..
 
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4

A CCG expansion in ABCD3 causes oculopharyngodistal myopath..:

Cortese, Andrea ; Beecroft, Sarah J. ; Facchini, Stefano...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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5

Ablation of the carboxy-terminal end of MAMDC2 causes a dis..:

Mavillard, Fabiola ; Servian-Morilla, Emilia ; Dofash, Lein...
Brain.  146 (2023)  12 - p. 5235-5248 , 2023
Link: https://doi.org/10.1093/..
 
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AKLHL403' UTR splice-altering variant causes milder NEM8, a..:

Dofash, Lein N H ; Monahan, Gavin V ; Servián-Morilla, Emilia...
Human Molecular Genetics.  32 (2022)  7 - p. 1127-1136 , 2022
Link: https://doi.org/10.1093/..
 
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7

A KLHL40 3' UTR splice-altering variant causes milder NEM8,..:

Dofash, Lein N. H ; Monahan, Gavin V ; Servián Morilla, E...
Preprint.  , 2022
Link: http://hdl.handle.net/10..
 
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