Ariana Kariminejad
Kariminejad-Najmabadi Pathology & Genetics Center
92 papers found
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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Download from europepmc.orgThe genetic basis of DOORS syndrome: An exome-sequencing study
Download from doi.orgUllrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations
Download from www.ncbi.nlm.nih.govAphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability
Download from onlinelibrary.wiley.comMutations inGRIP1cause Fraser syndrome
UploadCongenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Download from www.researchgate.netVSX2 mutations in autosomal recessive microphthalmia
Download from www.ncbi.nlm.nih.govHexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Download from doi.orgOsteogenesis Imperfecta: A Review with Clinical Examples
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