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Molecular Genetics & Genomic Medicine|January 29, 2024
Third-generation sequencing identified two rare α-chain variants leading to hemoglobin variants in Chinese populationJianlong Zhuang, Yuying Jiang, Yu'e Chen, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disordersValentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dupMelanie Gass, Britta Seebauer, Aline Thommen, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature reviewMing Liu, Huanhuan Li, Shuhong Ren, et al.
Molecular Genetics & Genomic Medicine|May 18, 2024
Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansionLuis Felipe León-Madero, Cesar Humberto Fregoso-Ron, Juan Carlos De León-Carbajal, et al.
Molecular Genetics & Genomic Medicine|May 4, 2024
Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature reviewJia-Wei Liu, Kexin Guo, Rui Zhang, et al.
Molecular Genetics & Genomic Medicine|November 14, 2023
Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boyYin Peng, Ying Zhu, Lin Wu, et al.
Molecular Genetics & Genomic Medicine|November 8, 2023
Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 geneJihong Hu, Juan Liu, Chunguang Guo, et al.
Molecular Genetics & Genomic Medicine|October 12, 2023
Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature reviewWei Shen, Ya Li
Molecular Genetics & Genomic Medicine|October 11, 2023
Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype-phenotype spectrumDong Han, Lihong Wang, Chen Zhao, et al.
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