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Publications by Mohammed Al-Owain
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
American Journal of Human Genetics
Genetics
Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Related publications
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
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Mutations in the RNA Exosome Component Gene EXOSC3 Cause Pontocerebellar Hypoplasia and Spinal Motor Neuron Degeneration
Nature Genetics
Genetics
Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
American Journal of Human Genetics
Genetics
Correction: Autosomal Recessive Lissencephaly With Cerebellar Hypoplasia Is Associated With Human RELN Mutations
Nature Genetics
Genetics
Mutations in the Mitochondrial Tryptophanyl‐tRNA Synthetase Cause Growth Retardation and Progressive Leukoencephalopathy
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
American Journal of Human Genetics
Genetics
Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
American Journal of Human Genetics
Genetics
