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Molecular Genetics & Genomic Medicine|August 28, 2023
Exome sequencing findings in children with annular pancreasGeorgia Pitsava, Nathan Pankratz, John Lane, et al.Molecular Genetics & Genomic Medicine|October 25, 2023
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7Xueqian Wang, Yaqiong He, Xiaorong Wang, et al.Molecular Genetics & Genomic Medicine|October 6, 2023
"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene"Mohammed Ahmed Mohammed Oshi, Jaber Alfaifi, Youssef Ali M Alqahtani, et al.Molecular Genetics & Genomic Medicine|July 20, 2023
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature reviewShiyang Gao, Qianwen Zhang, Biyun Feng, et al.Molecular Genetics & Genomic Medicine|July 8, 2023
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of ParáPedro E Bonfim-Freitas, Roseani S Andrade, Ândrea K Ribeiro-Dos-Santos, et al.Molecular Genetics & Genomic Medicine|July 19, 2023
Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiencyFei Xie, Lu Gan, Lei Lei, et al.Molecular Genetics & Genomic Medicine|July 11, 2023
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classificationAnna Byrjalsen, Ulrik Stoltze, Mana Mehrjouy, et al.Molecular Genetics & Genomic Medicine|June 20, 2023
Mutational spectrum in a Chinese cohort with congenital cataractsHong-Li Liu, Dao-Wei Zhang, Fang-Yuan Hu, et al.Molecular Genetics & Genomic Medicine|January 30, 2019
Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year periodOri Eyal, Michal Berkenstadt, Haike Reznik-Wolf, et al.Molecular Genetics & Genomic Medicine|February 2, 2019
The protective role of rs56103835 against breast cancer onset in the Iranian populationNegin Naderi, Maryam Peymani, Kamran GhaediPageof 252