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Molecular Genetics & Genomic Medicine|June 14, 2019
A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type IJing Ma, Ken Lin, Hong-Chao Jiang, et al.Molecular Genetics & Genomic Medicine|June 15, 2019
KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case seriesInn-Chi Lee, Tung-Ming Chang, Jao-Shwann Liang, et al.Molecular Genetics & Genomic Medicine|May 31, 2019
Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian familyKhalda Amr, Patrycja Pawlikowska, Said Aoufouchi, et al.Molecular Genetics & Genomic Medicine|June 5, 2019
Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndromePeter Georgeson, Michael D Walsh, Mark Clendenning, et al.Molecular Genetics & Genomic Medicine|June 15, 2019
Association of a homozygous GCK missense mutation with mild diabetesAntonella Marucci, Tommaso Biagini, Rosa Di Paola, et al.Molecular Genetics & Genomic Medicine|June 18, 2019
Association of BCR/ABL transcript variants with different blood parameters and demographic features in Iraqi chronic myeloid leukemia patientsMahmood S Khazaal, Farqad B Hamdan, Qasim S Al-MayahMolecular Genetics & Genomic Medicine|June 18, 2019
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1Ferdy K Cayami, Alessandra Maugeri, Sanne Treurniet, et al.Molecular Genetics & Genomic Medicine|October 17, 2019
Transcriptional profiling of long-intergenic noncoding RNAs in lung squamous cell carcinoma and its value in diagnosis and prognosisJieqiong Liu, Yali Yao, Zheyu Hu, et al.Molecular Genetics & Genomic Medicine|May 22, 2019
Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsyKristy Jay, Amit Mitra, Taylor Harding, et al.Molecular Genetics & Genomic Medicine|May 22, 2019
The human amniotic fluid mesenchymal stem cells therapy on, SKOV3, ovarian cancer cell lineShiva Gholizadeh-Ghaleh Aziz, Zahra Fardyazar, Maryam PashaiaslPageof 252