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Molecular Genetics & Genomic Medicine|July 31, 2021
A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type IIHaifeng Liu, Na Tao, Yan Wang, et al.
Molecular Genetics & Genomic Medicine|July 29, 2021
Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type IIJing Wang, Yu Lu, Xiaohong Yan, et al.
Molecular Genetics & Genomic Medicine|July 22, 2021
Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and reviewJing Liu, Qin Liu, Shuting Yang, et al.
Molecular Genetics & Genomic Medicine|November 6, 2018
Risk perception before and after presymptomatic genetic testing for Huntington's disease: Not always what one might expectKelsey Stuttgen, Rachel Dvoskin, Juli Bollinger, et al.
Molecular Genetics & Genomic Medicine|November 9, 2018
Functional variants of the ATG7 gene promoter in acute myocardial infarctionPei Zhang, Jie Zhang, Yexin Zhang, et al.
Molecular Genetics & Genomic Medicine|November 10, 2018
Associations of genetic variants in endocytic trafficking of epidermal growth factor receptor super pathway with risk of nonsyndromic cleft lip with or without cleft palateBing Li, Lan Ma, Chi Zhang, et al.
Molecular Genetics & Genomic Medicine|November 2, 2018
Triple A syndrome presenting as complicated hereditary spastic paraplegiaEtienne Leveille, Hernan D Gonorazky, Marie-France Rioux, et al.
Molecular Genetics & Genomic Medicine|November 30, 2016
Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathyNina Nouhravesh, Gustav Ahlberg, Jonas Ghouse, et al.
Molecular Genetics & Genomic Medicine|November 30, 2016
Ultrastructure of early amelogenesis in wild-type, Amelx-/-, and Enam-/- mice: enamel ribbon initiation on dentin mineral and ribbon orientation by ameloblastsCharles E Smith, Yuanyuan Hu, Jan C-C Hu, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylationGiuseppina Andreotti, Emilia Pedone, Assunta Giordano, et al.
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