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Mia Olsson-Engman
Mia Olsson-Engman
Biology
Medical genetics
Internal medicine
Medicine
Endocrinology
4
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129
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PREPL deficiency: Delineation of the phenotype and development of a functional blood assay
2018
Genetics in Medicine
Luc Régal
Emma Mårtensson
Isabelle Maystadt
Nicol C. Voermans
Damien Lederer
Alberto Burlina
María Jesús Juan-Fita
A. Jeannette M. Hoogeboom
Mia Olsson-Engman
Tess Hollemans
Meyke Schouten
S Meulemans
Tord Jonson
Inge François
David Gil-Ortega
Erik-Jan Kamsteeg
John Creemers
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Citations (16)
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase ( KY ) deficiency
2016
European Journal of Human Genetics
Carola Hedberg Oldfors
Niklas Darin
Mia Olsson-Engman
Zacharias Orfanos
Christer Thomsen
Peter F.M. van der Ven
Anders Oldfors
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Citations (10)
Hypocretin Deficiency Develops During Onset of Human Narcolepsy with Cataplexy
2013
Sleep
Andri Savvidou
Stine Knudsen
Mia Olsson-Engman
Steen Gammeltoft
Poul Jennum
Lars Palm
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Citations (17)
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders
2008
Journal of Medical Genetics
Anna-Maja Nyström
Sara Ekvall
Erna Berglund
Maria Bjorkqvist
Gunnar Braathen
Karel Duchén
Henrik Enell
Eva Holmberg
Ulrika Holmlund
Mia Olsson-Engman
Göran Annerén
Marie-Louise Bondeson
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Citations (86)
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