Resultados da busca - Maria Arvio
- Mostrando 1 - 5 resultados de 5
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Aspartylglycosaminuria: a review por Maria Arvio, Ilkka Mononen
Publicado em 2016Revisão -
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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders por 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
Publicado em 2024Artigo -
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X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes por 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
Publicado em 2014Artigo -
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Consensus guidelines into the management of epilepsy in adults with an intellectual disability por 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
Publicado em 2009Artigo
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Assuntos relacionados
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