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Search Results - Olsson‐Engman, M.
Search Results - Olsson‐Engman, M.
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A novel homozygous pathogenic missense variant in COX6B1 : Further delineation of the phenotype
by
Jennions, E.
,
Olsson‐Engman, M.
,
Visuttijai, K.
,
Wiksell, Å.
,
Fluriach Dominguez, N.
,
Kollberg, G.
,
Oldfors, A.
,
Hedberg‐Oldfors, C.
Published in
American journal of medical genetics. Part A
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Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease
by
Savvidou, A.
,
Jennions, E.
,
Wikström, S.
,
Olsson-Engman, M.
,
Sofou, K.
,
Darin, N.
Published in
European journal of paediatric neurology
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PREPL deficiency: delineation of the phenotype and development of a functional blood assay
by
Régal, Luc
,
Mårtensson, Emma
,
Maystadt, Isabelle
,
Voermans, Nicol
,
Lederer, Damien
,
Burlina, Alberto
,
Juan Fita, María Jesús
,
Hoogeboom, A. Jeannette M.
,
Olsson Engman, Mia
,
Hollemans, Tess
,
Schouten, Meyke
,
Meulemans, Sandra
,
Jonson, Tord
,
François, Inge
,
Gil Ortega, David
,
Kamsteeg, Erik-Jan
,
Creemers, John W.M.
Published in
Genetics in medicine
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A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency
by
Hedberg-Oldfors, Carola
,
Darin, Niklas
,
Olsson Engman, Mia
,
Orfanos, Zacharias
,
Thomsen, Christer
,
van der Ven, Peter F M
,
Oldfors, Anders
Published in
European journal of human genetics : EJHG
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