Isaac Marin-Valencia

2017 Rockefeller University, New York, NY, United States 
"Isaac Marin-Valencia"
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Marin-Valencia I, Gerondopoulos A, Zaki MS, et al. (2017) Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. American Journal of Human Genetics
Marin-Valencia I, Novarino G, Johansen A, et al. (2017) A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. Journal of Medical Genetics
Rosti RO, Sotak BN, Bielas SL, et al. (2017) Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Journal of Medical Genetics
Lardelli RM, Schaffer AE, Eggens VR, et al. (2017) Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics
Zaki MS, Bhat G, Sultan T, et al. (2016) PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive. Annals of Neurology
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