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2019
Laugsch, Magdalena, Bartusel, Michaela, Rehimi, Rizwan, Alirzayeva, Hafiza, Karaolidou, Agathi, Crispatzu, Giuliano, Zentis, Peter, Nikolic, Milos ORCID: 0000-0003-0029-7601, Bleckwehl, Tore, Kolovos, Petros
ORCID: 0000-0002-0787-6158, van Ijcken, Wilfred F. J., Saric, Tomo, Koehler, Katrin, Frommolt, Peter
ORCID: 0000-0002-1966-8014, Lachlan, Katherine, Baptista, Julia and Rada-Iglesias, Alvaro
(2019).
Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs.
Cell Stem Cell, 24 (5).
S. 736 - 765.
CAMBRIDGE:
CELL PRESS.
ISSN 1875-9777
Murakami, Yoshiko, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba ORCID: 0000-0001-5371-6756, Rousseau, Justine
ORCID: 0000-0002-3554-2673, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian
ORCID: 0000-0002-2768-1702, Altmueller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna
ORCID: 0000-0002-7560-797X, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth
ORCID: 0000-0001-6749-3661, 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 and Campeau, Philippe M.
(2019).
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am. J. Hum. Genet., 105 (2).
S. 384 - 395.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605