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Get AccessMaram Alojair
Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
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Get AccessKimberly A Coughlan
Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
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Get AccessMazhor Aldosary
Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis
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Get AccessMuhsin Elmas
Association of vitamin D level and CYP27B1 gene polymorphism with multiple sclerosis in Turkish population
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Get AccessMaher Mohammed Al-Hatlani
A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report
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Get AccessLamya Ahmad Faisal Alrayes
A Saudi child with Sphingosine Phosphate Lyase insufficiency syndrome
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Get AccessGulhan Gurel
A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing