Výsledky vyhledávání - Maria Arvio
- Zobrazuji výsledky 1 - 5 z 5
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Aspartylglycosaminuria: a review Autor Maria Arvio, Ilkka Mononen
Vydáno 2016Revisão -
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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders Autor Isabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, Susanna Öhman, Maria Arvio, Ritva Paetau, Auli Sirén, Kristiina Avela, Johanna Granvik, Suzanne M. Leal, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä
Vydáno 2024Artigo -
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X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes Autor Anju K. Philips, Auli Sirén, Kristiina Avela, Mirja Somer, Maarit Peippo, Minna Ahvenainen, Fatma Doagu, Maria Arvio, Helena Kääriäinen, Hilde Van Esch, Guy Froyen, Stefan A. Haas, Hao Hu, Vera M. Kalscheuer, Irma Järvelä
Vydáno 2014Artigo -
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Consensus guidelines into the management of epilepsy in adults with an intellectual disability Autor Mike Kerr, Mark Scheepers, Maria Arvio, Janine M. Beavis, Christian Brandt, Stephen L. Brown, Bernd Huber, M. Iivanainen, A. Louisse, Peter Martin, Anthony G Marson, V. P. Prasher, Butta Singh, M.J.B.M. Veendrick, Robyn A. Wallace
Vydáno 2009Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Intellectual disability
Medicine
Mutation
Environmental health
Epilepsy
Exome sequencing
Exon
Population
Psychiatry
Candidate gene
Cerebral palsy
Comorbidity
Computational biology
Copy-number variation
DNA sequencing
Delphi method
Etiology
Exome
Frameshift mutation
Genetic disorder
Genome
Guideline
Human genetics
Mathematics
Missense mutation
Pathology
Pediatrics