Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mia Olsson Engman"'
Autor:
Luc Régal, Erik-Jan Kamsteeg, Damien Lederer, Nicol C. Voermans, Alberto Burlina, John W.M. Creemers, David Gil Ortega, Sandra Meulemans, Tord Jonson, Mia Olsson Engman, A. Jeannette M. Hoogeboom, Meyke Schouten, Emma Mårtensson, María Jesús Juan Fita, Tess Hollemans, Isabelle Maystadt, Inge Francois
Publikováno v:
Genetics in Medicine, 20, 109-118
Genetics in Medicine, 20(1), 109-118. Lippincott Williams & Wilkins
Genetics in Medicine, 20, 1, pp. 109-118
Genetics in Medicine, 20(1), 109-118. Lippincott Williams & Wilkins
Genetics in Medicine, 20, 1, pp. 109-118
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination
Autor:
Carola Hedberg-Oldfors, Zacharias Orfanos, Mia Olsson Engman, Christer Thomsen, Anders Oldfors, Peter F.M. van der Ven, Niklas Darin
We describe a new early-onset neuromuscular disorder due to a homozygous loss-of-function variant in the kyphoscoliosis peptidase gene (KY). A 7.5-year-old girl with walking difficulties from 2 years of age presented with generalized muscle weakness;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1f351cc42ba38f200422f6989b4135a
https://europepmc.org/articles/PMC5117942/
https://europepmc.org/articles/PMC5117942/
Autor:
Mia Olsson-Engman, Erna Berglund, Marie-Louise Bondeson, Eva Holmberg, Anna-Maja Nyström, Maria Björkqvist, Göran Annerén, Ulrika Holmlund, Henrik Enell, Sara Ekvall, Karel Duchén, Gunnar Braathen
Publikováno v:
Journal of medical genetics. 45(8)
Background: Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFC) are related disorders associated with disrupted RAS/RAF/MEK/ERK signalling. NS, characterised by facial dysmorphism, congenital heart defects and short stature, is caused by m
Publikováno v:
Sleep. 36:147-148
Study Objectives: Although hypothesized through animal studies, a temporal and causal association between hypocretin deficiency and the onset of narcolepsy with cataplexy (NC) has never been proven in humans. Setting: Paediatric Department, Blekinge