Biblio
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review. Eur J Med Genet. 2022:104522.
. Two siblings with PEX11B-related peroxisome biogenesis disorder. Eur J Med Genet. 2024:104928.
. The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review. Eur J Med Genet. 2023:104707.
. Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1. Eur J Med Genet. 2022:104449.
. Phenotype of ST3GAL3 Deficient Patients: a Case and Review of the Literature. Eur J Med Genet. 2021:104250.
Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutation. Eur J Med Genet. 2023:104846.
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