Lia Abbasi‐Moheb

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Lia Abbasi‐Moheb, Sara Mertel, Melanie Gonsior et al. · The American Journal of Human Genetics · 2012 · 269 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach et al. · Human Genetics · 2010 · 50 citations

Mendelian Disorder, Psychiatry, Genetic Disorder +8

ALPHA-THALASSEMIA:DELETION ANALYSIS IN IRAN

M Neyshabouri, Lia Abbasi‐Moheb, Kimia Kahrizi et al. · 2001 · 16 citations

Immunohematology, Deletion-specific Pcr Amplification, Genetics +18

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

Adila Al‐Kindi, Maryam Al-Shehhi, Ana Westenberger et al. · Journal of Human Genetics · 2019 · 13 citations

Genetic Disorder, Genetics, Clinical Presentation +4

Biallelic loss‐of‐function <scp><i>HACD1</i></scp> variants are a bona fide cause of congenital myopathy

Lia Abbasi‐Moheb, Ana Westenberger, Maha Alotaibi et al. · Clinical Genetics · 2020 · 10 citations