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Publications by Ali Alasmari
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy
American Journal of Human Genetics
Genetics
Expanding the Clinical, Allelic, and Locus Heterogeneity of Retinal Dystrophies
Genetics in Medicine
Medicine
Genetics
Related publications
Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
American Journal of Human Genetics
Genetics
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
American Journal of Human Genetics
Genetics
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
American Journal of Human Genetics
Genetics
Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
American Journal of Human Genetics
Genetics
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
American Journal of Human Genetics
Genetics
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
American Journal of Human Genetics
Genetics
Mutations in LNPK , Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome
American Journal of Human Genetics
Genetics
