Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

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Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

Author: Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Muller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Bonnen, Penelope E.; Froukh, Tawfiq; Groeschel, Samuel; Krageloh-Mann, Ingeborg; Haack, Tobias B.; Distelmaier, Felix
Tübinger Autor(en):
Laugwitz, Lucia
Peralta, Susana
Kienzle, Imke
Buchert, Rebecca
Falb, Ruth
Gauck, Darja
Grimmel, Mona
Kern, Jan
Müller, Amelie Johanna
Beck-Wödl, Stefanie
Gröschel, Samuel
Krägeloh-Mann, Ingeborg
Haack, Tobias
Published in: Journal of Medical Genetics (2022), Bd. 59, H. 9, S. 878-887
Verlagsangabe: Bmj Publishing Group
Language: English
Full text: http://dx.doi.org/10.1136/jmedgenet-2021-107729
ISSN: 0022-2593
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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