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2021
Mark First year of TREC-based national SCID screening in Sweden
Göngrich, Christina ; Ekwall, Olov ; Sundin, Mikael ; Brodszki, Nicholas ^LU ; Fasth, Anders ; Marits, Per ; Dysting, Sam ; Jonsson, Susanne ^LU ; Barbaro, Michela and Wedell, Anna , et al. (2021) In International Journal of Neonatal Screening 7(3).
- Contribution to journal › Article
2019
Mark Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
Maffezzini, Camilla ; Laine, Isabelle ; Dallabona, Cristina ; Clemente, Paula ; Calvo-Garrido, Javier ; Wibom, Rolf ; Naess, Karin ; Barbaro, Michela ; Falk, Anna ^LU and Donnini, Claudia , et al. (2019) In Molecular Genetics & Genomic Medicine 7(6).
- Contribution to journal › Article
2008
Mark DAX1 locus duplications as a cause of isolated partial or complete 46,XY gonadal dysgenesis
Barbaro, Michela ; Oscarson, Mikael ; Ivarsson, Sten ^LU ; Cook, Jackie ; Baldazzi, Lilia and Wedell, Anna (2008) In Hormone Research 70. p.29-30
- Contribution to journal › Published meeting abstract
Mark Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms
Zhang, Zhong-Fa ; Ruivenkamp, Claudia ; Staaf, Johan ^LU ; Zhu, Hongbo ; Barbaro, Michela ; Petillo, David ; Khoo, Sok Kean ; Borg, Åke ^LU ; Fan, Yao-Shan and Schoumans, Jacqueline (2008) In European Journal of Human Genetics 16(7). p.786-792
- Contribution to journal › Article
Mark Array-CGH identifies cyclin D1 and UBCH10 amplicons in anaplastic thyroid carcinoma.
Lee, Jia-Jing ; Au, Amy Y M ; Foukakis, Theodoros ; Barbaro, Michela ; Kiss, Nimrod ; Clifton-Bligh, Roderick ; Staaf, Johan ^LU ; Borg, Åke ^LU ; Delbridge, Leigh and Robinson, Bruce G , et al. (2008) In Endocrine-Related Cancer 15(3). p.801-815
- Contribution to journal › Article
2007
Mark Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
Barbaro, Michela ; Oscarson, Mikael ; Schoumans, Jacqueline ; Staaf, Johan ^LU ; Ivarsson, Sten ^LU and Wedell, Anna (2007) In Journal of Clinical Endocrinology and Metabolism 92(8). p.3305-3313
- Contribution to journal › Article
Mark Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
Schoumans, Jacqueline ; Wincent, Josephine ; Barbaro, Michela ; Djureinovic, Tatjana ; Maguire, Paula ; Forsberg, Lena ; Staaf, Johan ^LU ; Thuresson, Ann Charlotte ; Borg, Åke ^LU and Nordgren, Ann , et al. (2007) In European Journal of Human Genetics 15(2). p.143-149
- Contribution to journal › Article