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X
Hackman, P.
199  Ergebnisse:
OpenAccess-Volltexte X
Personensuche X
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1

Identification and Characterization of Splicing Defects by ..:

Savarese, M ; Qureshi, T ; Torella, A...
10.3233/JND-200523.  , 2021
Link: http://hdl.handle.net/10..
 
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2

Exome reanalysis and proteomic profiling identified TRIP4 a..:

Töpf, A ; Pyle, A ; Griffin, H...
https://discovery.ucl.ac.uk/id/eprint/10171386/1/Houlden_Exome%20reanalysis%20and%20proteomic%20profiling%20identified%20TRIP4%20as%20a%20novel%20cause%20of%20cerebellar%20hypoplasia%20and%20spinal%20muscular%20atrophy_VoR.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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3

Missense mutations in small muscle protein X-linked (SMPX) ..:

Johari M ; Sarparanta J ; Vihola A...
info:eu-repo/semantics/altIdentifier/pmid/33974137.  , 2021
Link: http://hdl.handle.net/24..
 
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4

Solving patients with rare diseases through programmatic re..:

Matalonga L ; Hernandez-Ferrer C ; Piscia D...
info:eu-repo/semantics/altIdentifier/pmid/34075210.  , 2021
Link: https://hdl.handle.net/1..
 
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5

Panorama of the distal myopathies:

Savarese, M ; Sarparanta, J ; Vihola, A...
10.36185/2532-1900-028.  , 2021
Link: http://hdl.handle.net/10..
 
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6

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy ..:

Jonson, P. H ; Palmio, J ; Johari, M...
info:eu-repo/semantics/altIdentifier/doi/10.1111/ene.13598.  , 2018
Link: https://normandie-univ.h..
 
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7

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy ..:

Jonson, P. H ; Palmio, J ; Johari, M...
info:eu-repo/semantics/altIdentifier/doi/10.1111/ene.13598.  , 2018
Link: https://normandie-univ.h..
 
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8

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy ..:

Jonson, P. H ; Palmio, J ; Johari, M...
info:eu-repo/semantics/altIdentifier/doi/10.1111/ene.13598.  , 2018
Link: https://normandie-univ.h..
 
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9

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy ..:

Jonson, P. H ; Palmio, J ; Johari, M...
info:eu-repo/semantics/altIdentifier/doi/10.1111/ene.13598.  , 2018
Link: https://normandie-univ.h..
 
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10

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy ..:

Jonson, P. H ; Palmio, J ; Johari, M...
info:eu-repo/semantics/altIdentifier/doi/10.1111/ene.13598.  , 2018
Link: https://normandie-univ.h..
 
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11

Congenital Titinopathy: Comprehensive characterization and ..:

Oates, EC ; Jones, KJ ; Donkervoort, S...
issn:0364-5134.  , 2018
Link: http://hdl.handle.net/11..
 
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12

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy ..:

Jonson, P. H ; Palmio, J ; Johari, M...
info:eu-repo/semantics/altIdentifier/doi/10.1111/ene.13598.  , 2018
Link: https://normandie-univ.h..
 
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13

Congenital titinopathy: comprehensive characterisation and ..:

Oates, EC ; Jones, KJ ; Donkervoort, S...
Annals of Neurology.  , 2018
Link: http://hdl.handle.net/10..
 
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14

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy ..:

Jonson, P. H ; Palmio, J ; Johari, M...
info:eu-repo/semantics/altIdentifier/doi/10.1111/ene.13598.  , 2018
Link: https://normandie-univ.h..
 
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15

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy ..:

Jonson, P. H ; Palmio, J ; Johari, M...
info:eu-repo/semantics/altIdentifier/doi/10.1111/ene.13598.  , 2018
Link: https://normandie-univ.h..
 
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