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Molecular Genetics & Genomic Medicine|March 7, 2024
ABCG2 polymorphisms and susceptibility to ARV-associated hepatotoxicityHariOm Singh, Kishore Dhotre, Shyamveer, et al.
Molecular Genetics & Genomic Medicine|March 5, 2024
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variantsYingying Li, Liying Dai, Hong Xu, et al.
Molecular Genetics & Genomic Medicine|March 6, 2024
Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansionHaitian Nan, Min Chu, Jing Zhang, et al.
Molecular Genetics & Genomic Medicine|March 4, 2024
Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiencyXiao-Liang Xing, Ziqiang Zeng, Yana Wang, et al.
Molecular Genetics & Genomic Medicine|July 31, 2023
First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regionsElia Schlaich, Wouter H G Hubens, Thomas Eggermann
Molecular Genetics & Genomic Medicine|July 27, 2023
Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variantMaryangel Perea-Cabrera, Javier T Granados-Riveron, Begoña Segura-Stanford, et al.
Molecular Genetics & Genomic Medicine|July 25, 2023
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case reportAren E Marshall, Stella K MacDonald, Yijing Liang, et al.
Molecular Genetics & Genomic Medicine|July 25, 2023
A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalusTiantian He, Qiang Yao, Bocheng Xu, et al.
Molecular Genetics & Genomic Medicine|August 9, 2023
Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of DagestanSergey N Bardakov, Roman V Deev, Аrtur А Isaev, et al.
Molecular Genetics & Genomic Medicine|July 24, 2023
Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndromeJianlong Zhuang, Shufen Liu, Junyu Wang, et al.
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