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Your search keyword '"Salla M"' showing total 2 results
Start Over Author "Salla M" Journal clinical genetics
2 results on '"Salla M"'

1. Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

Author

Hautakangas, Milla‐Riikka, primary, Widgren, Paula, additional, Korpelainen, Paavo, additional, Kangas, Salla M., additional, Komulainen, Tuomas, additional, Vieira, Päivi, additional, Rahikkala, Elisa, additional, Pylkäs, Katri, additional, Tuominen, Hannu, additional, Kokkonen, Hannaleena, additional, Miinalainen, Ilkka, additional, Nadaf, Javad, additional, Majewski, Jacek, additional, Hinttala, Reetta, additional, and Uusimaa, Johanna, additional

Published
2023
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2. Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype

Author

Knuutinen, Oula, primary, Pyle, Angela, additional, Suo‐Palosaari, Maria, additional, Duff, Jennifer, additional, Froukh, Tawfiq, additional, Lehesjoki, Anna‐Elina, additional, Kangas, Salla M., additional, Cassidy, James, additional, Maraqa, Latifa, additional, Keski‐Filppula, Riikka, additional, Kokkonen, Hannaleena, additional, Uusimaa, Johanna, additional, Horvath, Rita, additional, and Vieira, Päivi, additional

Published
2020
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