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Barbaro, Michela
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1

PARKIN is not required to sustain OXPHOS function in adult ..:

Filograna, Roberta ; Gerlach, Jule ; Choi, Hae-Na...
npj Parkinson's Disease.  10 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

Systematically testing human HMBS missense variants to reve..:

van Loggerenberg, Warren ; Sowlati-Hashjin, Shahin ; Weile, Jochen...
The American Journal of Human Genetics.  110 (2023)  10 - p. 1769-1786 , 2023
Link: https://doi.org/10.1016/..
 
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3

Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swed..:

Olsson, David ; Barbaro, Michela ; Haglind, Charlotte...
JIMD Reports.  63 (2022)  2 - p. 181-190 , 2022
Link: https://doi.org/10.1002/..
 
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4

First Year of TREC-Based National SCID Screening in Sweden:

Göngrich, Christina ; Ekwall, Olov ; Sundin, Mikael...
International Journal of Neonatal Screening.  7 (2021)  3 - p. 59 , 2021
Link: https://doi.org/10.3390/..
 
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5

Integration of whole genome sequencing into a healthcare se..:

Stranneheim, Henrik ; Lagerstedt-Robinson, Kristina ; Magnusson, Måns...
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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6

Genome-wide investigation of DNA methylation in congenital ..:

Karlsson, Leif ; Barbaro, Michela ; Ewing, Ewoud..
The Journal of Steroid Biochemistry and Molecular Biology.  201 (2020)  - p. 105699 , 2020
Link: https://doi.org/10.1016/..
 
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7

Epilepsy syndromes, etiologies, and the use of next‐generat..:

Stödberg, Tommy ; Tomson, Torbjörn ; Barbaro, Michela...
Epilepsia.  61 (2020)  11 - p. 2486-2499 , 2020
Link: https://doi.org/10.1111/..
 
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8

Mutations in the mitochondrial tryptophanyl‐tRNA synthetase..:

Maffezzini, Camilla ; Laine, Isabelle ; Dallabona, Cristina...
Molecular Genetics & Genomic Medicine.  7 (2019)  6 - p. , 2019
Link: https://doi.org/10.1002/..
 
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9

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused..:

Jensen, Kristian Vestergaard ; Frid, Maria ; Stödberg, Tommy...
JIMD Reports.  50 (2019)  1 - p. 1-8 , 2019
Link: https://doi.org/10.1002/..
 
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10

Novel non-classic CYP21A2 variants, including combined alle..:

Karlsson, Leif ; de Paula Michelatto, Débora ; Lusa, Ana Letícia Gori...
Clinical Biochemistry.  73 (2019)  - p. 50-56 , 2019
Link: https://doi.org/10.1016/..
 
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11

Epigenetic Alterations Associated With Early Prenatal Dexam..:

Karlsson, Leif ; Barbaro, Michela ; Ewing, Ewoud..
Journal of the Endocrine Society.  3 (2018)  1 - p. 250-263 , 2018
Link: https://doi.org/10.1210/..
 
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12

Newborn Screening for Primary Immune Deficiencies with a TR..:

Zetterström, Rolf ; Barbaro, Michela ; Ohlsson, Annika...
International Journal of Neonatal Screening.  3 (2017)  2 - p. 11 , 2017
Link: https://doi.org/10.3390/..
 
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13

Biotin and Thiamine Responsive Basal Ganglia Disease – A vi..:

Ygberg, Sofia ; Naess, Karin ; Eriksson, Mats...
European Journal of Paediatric Neurology.  20 (2016)  3 - p. 457-461 , 2016
Link: https://doi.org/10.1016/..
 
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14

Functional and Structural Consequences of NineCYP21A2Mutati..:

de Paula Michelatto, Débora ; Karlsson, Leif ; Lusa, Ana Letícia Gori...
International Journal of Endocrinology.  2016 (2016)  - p. 1-10 , 2016
Link: https://doi.org/10.1155/..
 
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15

Newborn Screening for Severe Primary Immunodeficiency Disea..:

Barbaro, Michela ; Ohlsson, Annika ; Borte, Stephan...
Journal of Clinical Immunology.  37 (2016)  1 - p. 51-60 , 2016
Link: https://doi.org/10.1007/..
 
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