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Zeitschriftenartikel
Duong, Nguyen Thuy; Dinh, Tran Huu; Möhl, Britta S.; Hintze, Stefan; Quynh, Do Hai; Ha, Duong Thi Thu; Ngoc, Ngo Diem; Dung, Vu Chi; Miyake, Noriko; Hai, Nong Van; Matsumoto, Naomichi und Meinke, Peter
(2022):
Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants.
In: Aging, Bd. 14, Nr. 13: S. 5299-5310
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Murakami, Yoshiko; Thi Tuyet Mai, Nguyen; Baratang, Nissan; Raju, Praveen K.; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmüller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C.; Maier, Esther M.; Haack, Tobias B.; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A.; Liu, Pengfei; Joosten, Marieke; Rocha, Maria Eugenia; Hashem, Mais O.; Aldhalaan, Hesham M.; Alkuraya, Fowzan S.; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M.; Rossignol, Elsa; Kinoshita, Taroh und Campeau, Philippe M.
(2019):
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
In: American Journal of Human Genetics, Bd. 105, Nr. 2: S. 384-394