SYT1-associated neurodevelopmental disorder: a case series
Kate Baker, Sarah L Gordon, Holly Melland et al. · Brain · 2018 · Case report
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Genetics
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Corrected FLAGS, frequently mutated genes in public exomes
Casper Shyr, Maja Tarailo-Graovac, Michael Gottlieb et al. · BMC Medical Genomics · 2014 · Case report
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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Denise Horn, Johannes Kapeller, Núria Rivera-Brugués et al. · Human Mutation · 2010 · Case report
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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
Brian P Kelley, Fransiska Malfait, Luisa Bonafe et al. · Journal of Bone and Mineral Research · 2010 · Case report
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Donor-Derived Brain Tumor Following Neural Stem Cell Transplantation in an Ataxia Telangiectasia Patient
Ninette Amariglio, Abraham Hirshberg, Bernd W Scheithauer et al. · PLoS Medicine · 2009 · Case report
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