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Search Results - Stafki, S.
Search Results - Stafki, S.
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FP.36 Genetic variants in DTNA cause a mild dominantly inherited muscular dystrophy
by
Nascimento, A.
,
Bruels, C.
,
Codina, A.
,
Milisenda, J.
,
Li, C.
,
Carrera-García, L.
,
Estrella, E.
,
Pijuan, J.
,
Expósito-Escudero, J.
,
Stafki, S.
,
Martorell, L.
,
Lidov, H.
,
Ortez, C.
,
Palau, F.
,
Darras, B.
,
Jou, C.
,
Kunkel, L.
,
Hoenicka, J.
,
Kang, P.
,
Natera-de Benito, D.
Published in
Neuromuscular disorders : NMD
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The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
by
Stafki, Seth A.
,
Turner, Johnnie
,
Littel, Hannah R.
,
Bruels, Christine C.
,
Truong, Don
,
Knirsch, Ursula
,
Stettner, Georg M.
,
Graf, Urs
,
Berger, Wolfgang
,
Kinali, Maria
,
Jungbluth, Heinz
,
Pacak, Christina A.
,
Hughes, Jayne
,
Mirchi, Amytice
,
Derksen, Alexa
,
Vincent-Delorme, Catherine
,
Theil, Arjan F.
,
Bernard, Geneviève
,
Ellis, David
,
Fassihi, Hiva
,
Lehmann, Alan R.
,
Laugel, Vincent
,
Mohammed, Shehla
,
Kang, Peter B.
Published in
Pediatric neurology
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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
by
Nascimento, Andres
,
Bruels, Christine C.
,
Donkervoort, Sandra
,
Foley, A. Reghan
,
Codina, Anna
,
Milisenda, Jose C.
,
Estrella, Elicia A.
,
Li, Chengcheng
,
Pijuan, Jordi
,
Draper, Isabelle
,
Hu, Ying
,
Stafki, Seth A.
,
Pais, Lynn S.
,
Ganesh, Vijay S.
,
O’Donnell-Luria, Anne
,
Syeda, Safoora B.
,
Carrera-García, Laura
,
Expósito-Escudero, Jessica
,
Yubero, Delia
,
Martorell, Loreto
,
Pinal-Fernandez, Iago
,
Lidov, Hart G. W.
,
Mammen, Andrew L.
,
Grau-Junyent, Josep M.
,
Ortez, Carlos
,
Palau, Francesc
,
Ghosh, Partha S.
,
Darras, Basil T.
,
Jou, Cristina
,
Kunkel, Louis M.
,
Hoenicka, Janet
,
Bönnemann, Carsten G.
,
Kang, Peter B.
,
Natera-de Benito, Daniel
Published in
Acta neuropathologica
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Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
by
Bruels, Christine C.
,
Littel, Hannah R.
,
Daugherty, Audrey L.
,
Stafki, Seth
,
Estrella, Elicia A.
,
McGaughy, Emily S.
,
Truong, Don
,
Badalamenti, Jonathan P.
,
Pais, Lynn
,
Ganesh, Vijay S.
,
O'Donnell‐Luria, Anne
,
Stalker, Heather J.
,
Wang, Yang
,
Collins, Christin
,
Behlmann, Andrea
,
Lemmers, Richard J. L. F.
,
Maarel, Silvère M.
,
Laine, Regina
,
Ghosh, Partha S.
,
Darras, Basil T.
,
Zingariello, Carla D.
,
Pacak, Christina A.
,
Kunkel, Louis M.
,
Kang, Peter B.
Published in
Annals of clinical and translational neurology
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Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy
by
Turner, Johnnie
,
Bruels, Christine C.
,
Daugherty, Audrey L.
,
Estrella, Elicia A.
,
Stafki, Seth
,
Syeda, Safoora B.
,
Littel, Hannah R.
,
Pais, Lynn
,
Ganesh, Vijay S.
,
Lidov, Hart G. W.
,
Paine, Simon M. L.
,
Maddison, Paul
,
Harrison, Rachel E.
,
Straub, Volker
,
Ghosh, Partha S.
,
Pacak, Christina A.
,
Kunkel, Louis M.
,
Draper, Isabelle
,
Topf, Ana
,
Kang, Peter B.
Published in
Muscle & nerve
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