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Clinical Case Reports|September 8, 2025
Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 DeficiencyMaryam Saeedi, Kayvan Mirnia, Sahar Sedighzadeh, et al.BMC Pediatrics|October 29, 2025
Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shockElaheh Foroughi, Bahareh Abtahi-Naeini, Maryam Derakhshan, et al.Molecular Genetics and Genomics : MGG|June 26, 2022
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest IranMina Zamani, Sahar Sedighzadeh, Tahereh Seifi, et al.Movement Disorders Clinical Practice|January 26, 2023
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature ReviewFrancesca Magrinelli, Kailash P Bhatia, Mehran Beiraghi Toosi, et al.International Journal of Preventive Medicine|October 22, 2020
Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome SequencingSamira Negahdari, Mina Zamani, Tahereh Seifi, et al.Journal of Medical Genetics|March 18, 2025
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulationSajjad Biglari, Mohammad Shahrooei, Fatemeh Vahidnezhad, et al.Journal of Neuromuscular Diseases|March 29, 2026
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophyStephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh, et al.Brain Communications|October 10, 2025
Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencyFrancesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, et al.European Journal of Human Genetics : EJHG|October 17, 2022
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathyTamara T Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, et al.HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.Pageof 2