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American Journal of Medical Genetics. Part A|November 17, 2023
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyriaTommi Salokivi, Riitta Parkkola, Yasmin Rajendran, et al.
European Journal of Medical Genetics|July 21, 2020
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansionRenee Carroll, Marie Shaw, Maria Arvio, et al.
Acta Cardiologica|May 13, 2010
Cardiopulmonary involvement in Fabry's diseaseJuha W Koskenvuo, Ilkka M Kantola, Pirjo Nuutila, et al.
Basic Research in Cardiology|May 29, 2014
Myocardial blood flow and its transit time, oxygen utilization, and efficiency of highly endurance-trained human heartIlkka Heinonen, Nobuyuki Kudomi, Jukka Kemppainen, et al.
Life Science Alliance|August 24, 2019
Heterozygous loss of function of <i>IQSEC2</i>/<i>Iqsec2</i> leads to increased activated Arf6 and severe neurocognitive seizure phenotype in femalesMatilda R Jackson, Karagh E Loring, Claire C Homan, et al.
Scientific Reports|May 16, 2024
Optical genome mapping unveils hidden structural variants in neurodevelopmental disordersIsabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, et al.
Orphanet Journal of Rare Diseases|April 12, 2014
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesAnju K Philips, Auli Sirén, Kristiina Avela, et al.
Human Genetics|March 12, 2021
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of FinlandIrma Järvelä, Tuomo Määttä, Anushree Acharya, et al.
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