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Molecular Genetics & Genomic Medicine|July 27, 2019
Two novel GJA1 variants in oculodentodigital dysplasiaNikolai P Pace, Valerie Benoit, David Agius, et al.
Molecular Genetics & Genomic Medicine|July 27, 2019
A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencingFengchang Qiao, Chen Wang, Chunyu Luo, et al.
Molecular Genetics & Genomic Medicine|July 27, 2019
Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragilityKatharina Keupp, Stephanie Hampp, Annette Hübbel, et al.
Molecular Genetics & Genomic Medicine|July 20, 2019
Functional evaluation of a novel GLA causative mutation in Fabry diseasePing Li, Lijuan Zhang, Qiuhong Xiong, et al.
Molecular Genetics & Genomic Medicine|July 23, 2019
Toll-like receptor 4 polymorphisms in Saudi population with cardiovascular diseasesAbdelhabib Semlali, Mikhlid Al Mutairi, Ibrahim Oqla Alanazi, et al.
Molecular Genetics & Genomic Medicine|August 30, 2019
Side differences in the degree of mosaicism of the buccal mucosa in Turner syndromeSofia Thunström, Kerstin Landin-Wilhelmsen, Inger Bryman, et al.
Molecular Genetics & Genomic Medicine|August 30, 2019
Guillain-Barre syndrome outbreak in Peru: Association with polymorphisms in IL-17, ICAM1, and CD1Luis Jaramillo-Valverde, Kelly S Levano, Isolina Villanueva, et al.
Molecular Genetics & Genomic Medicine|August 2, 2019
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystoniaIchraf Kraoua, Adnane Karkar, Cyrine Drissi, et al.
Molecular Genetics & Genomic Medicine|August 2, 2019
Circulating miR-130 and its target PPAR-γ may be potential biomarkers in patients of coronary artery disease with type 2 diabetes mellitusYonggang Yuan, Wanzhong Peng, Yongxing Liu, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screeningKai Muru, Karit Reinson, Kadi Künnapas, et al.
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