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Molecular Genetics & Genomic Medicine|March 10, 2019
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 geneKonstantin Ridnõi, Marek Šois, Eve Vaidla, et al.
Molecular Genetics & Genomic Medicine|February 17, 2021
Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroidsSun Young Kim, Alexander Ing, Shunyou Gong, et al.
Molecular Genetics & Genomic Medicine|January 24, 2021
BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotypeMarcin Bednarek, Marek Trybus, Monika Kolanowska, et al.
Molecular Genetics & Genomic Medicine|February 6, 2021
The Rh blood group system and its role in alloimmunization rate among sickle cell disease and sickle thalassemia patients in IranMohammad Ali Jalali Far, Arezoo Oodi, Naser Amirizadeh, et al.
Molecular Genetics & Genomic Medicine|February 17, 2021
Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese familiesYinhui Yu, Yue Qiao, Yang Ye, et al.
Molecular Genetics & Genomic Medicine|August 15, 2019
Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast studyPäivi Pietilä-Effati, Jukka T Saarinen, Eliisa Löyttyniemi, et al.
Molecular Genetics & Genomic Medicine|September 7, 2019
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathyJennifer Roggenbuck, Kelly Rich, Ana Morales, et al.
Molecular Genetics & Genomic Medicine|August 8, 2019
Interleukin 10 gene polymorphisms and frailty syndrome in elderly Mexican people: (Sadem study)Teresa Juárez-Cedillo, Gilberto Vargas-Alarcón, Nancy Martínez-Rodríguez, et al.
Molecular Genetics & Genomic Medicine|August 8, 2019
Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida populationDaria Salyakina, Sharmeen Roy, Weize Wang, et al.
Molecular Genetics & Genomic Medicine|April 12, 2025
Identification and Structural Characterization of a Novel COL3A1 Gene Duplication in a Family With Vascular Ehlers-Danlos SyndromeGianmaria Miolo, Piernicola Machin, Marco De Conto, et al.
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