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Molecular Genetics & Genomic Medicine|July 19, 2017
Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblastsJian-Hua Chen, Tarekegn Geberhiwot, Timothy G Barrett, et al.Molecular Genetics & Genomic Medicine|July 19, 2017
Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson diseaseAgnese Zarina, Ieva Tolmane, Madara Kreile, et al.Molecular Genetics & Genomic Medicine|July 19, 2017
Different renal phenotypes in related adult males with Fabry disease with the same classic genotypeRenzo Mignani, Mariarita Moschella, Giovanna Cenacchi, et al.Molecular Genetics & Genomic Medicine|July 19, 2017
Pitfalls in genetic testing: a case of a SNP in primer-annealing region leading to allele dropout in BRCA1Felipe Carneiro Silva, Giovana Tardin Torrezan, Rafael Canfield Brianese, et al.Molecular Genetics & Genomic Medicine|June 2, 2016
Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCRKatsunori Fujiki, Katsuhiko Shirahige, Maninder Kaur, et al.Molecular Genetics & Genomic Medicine|June 2, 2016
Carrier screening by next-generation sequencing: health benefits and cost effectivenessMohammad Azimi, Kyle Schmaus, Valerie Greger, et al.Molecular Genetics & Genomic Medicine|October 22, 2014
Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine diseasePaula Fernández-Guerra, Rune I D Birkler, Begoña Merinero, et al.Molecular Genetics & Genomic Medicine|October 22, 2014
Disease variants in genomes of 44 centenariansYun Freudenberg-Hua, Jan Freudenberg, Vladimir Vacic, et al.Molecular Genetics & Genomic Medicine|December 10, 2017
A review of structural brain abnormalities in Pallister-Killian syndromeCathryn Poulton, Gareth Baynam, Clarissa Yates, et al.Molecular Genetics & Genomic Medicine|November 28, 2017
Clinical verification of genetic results returned to research participants: findings from a Colon Cancer Family RegistryMercy Y Laurino, Anjali R Truitt, Lederle Tenney, et al.Pageof 252