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1 . Academic Journal
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
저자
by
Vill, Katharina
;
Tacke, Moritz
;
König, Anna
;
Baumann, Matthias
;
Baumgartner, Manuela
, et al.
소스
Journal of Neurology
. 271(5):2787-2797
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7 . Academic Journal
Further evidence forPOMKas candidate gene for WWS with meningoencephalocele
저자
by
Paul, Luisa
;
Rupprich, Katrin
;
Della Marina, Adela
;
Stein, Anja
;
Elgizouli, Magdeldin
, et al.
소스
ORPHANET JOURNAL OF RARE DISEASES
; SEP 9 2020, 15 1, p242 10p.
Open Access (BioMed Central)
Scopus
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7 . Academic Journal
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation inFLNC
저자
by
Koelbel, Heike
;
Roos, Andreas
;
van Der Ven, Peter F. M.
;
Evangelista, Teresinha
;
Nolte, Kay
, et al.
소스
HUMAN MUTATION
; JUL 11 2020, 15p.
Scopus
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7 . Academic Journal
Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain
저자
by
Goerlach, Jonas
;
Amsel, Daniel
;
Koelbel, Heike
;
Grzybowsky, Michelle
;
Rutsch, Frank
, et al.
소스
MUSCLE & NERVE
; FEB 2020, 61 2, p173-p181, 9p.
Full Text (Wiley)
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7 . Academic Journal
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
저자
by
Mueller-Felber, Wolfgang
;
Vill, Katharina
;
Schwartz, Oliver
;
Glaeser, Dieter
;
Nennstiel, Uta
, et al.
소스
JOURNAL OF NEUROMUSCULAR DISEASES
; 2020, 7 2, p109-p117, 9p.
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7 . Academic Journal
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism
저자
by
Meinke, Peter
;
Kerr, Alastair R. W.
;
Czapiewski, Rafal
;
de Las Heras, Jose, I
;
Dixon, Charles R.
, et al.
소스
EBIOMEDICINE
; JAN 2020, 51 pUNSP 102587 20p.
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7 .
Nusinersen versus sham control in later-onset spinal muscular atrophy
저자
by
Vogt, Sibylle
;
Krueger, Marcus
;
Pechmann, Astrid
;
Rippberger, Bianca
;
Eckenweiler, Matthias
, et al.
소스
New England Journal of Medicine
New England Journal of Medicine, 2018, 378 (7), pp.625-635. ⟨10.1056/NEJMoa1710504⟩
Paediatrics Publications
Full Text (WestLaw)
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7 . Academic Journal
Outcome after Robotic-Assisted Thymectomy in Children and Adolescents with Acetylcholine Receptor Antibody-Positive Juvenile Myasthenia Gravis
저자
by
Della Marina, Adela
;
Koelbel, Heike
;
Muellers, Maximilian
;
Kaiser, Olaf
;
Ismail, Mahmoud
, et al.
소스
NEUROPEDIATRICS
; AUG 2017, 48 4, 7p.
Scopus
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7 . Academic Journal
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy
저자
by
Zaum, Ann-Kathrin
;
Stueve, Burkhard
;
Gehrig, Andrea
;
Koelbel, Heike
;
Schara, Ulrike
, et al.
소스
NEUROMUSCULAR DISORDERS
; JUL 2017, 27 7, p631-p634, 4p.
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7 . Academic Journal
Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III
저자
by
Koelbel, Heike
;
Hauffa, Berthold P.
;
Wudy, Stefan A.
;
Bouikidis, Anastasios
;
Della Marina, Adela
, et al.
소스
PLOS ONE
; MAR 9 2017, 12 3, pe0173144 13p.
Scopus
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