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Molecular Genetics & Genomic Medicine|March 25, 2015
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS geneSusanne Thiele, Ralf Werner, Joachim Grötzinger, et al.
Molecular Genetics & Genomic Medicine|May 10, 2023
Novel heterozygous variants in the EP300 gene cause Rubinstein-Taybi syndrome 2: Reports from two Chinese childrenCaiqi Du, Zhuoguang Li, Biao Zou, et al.
Molecular Genetics & Genomic Medicine|May 15, 2023
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorderFrancesca Cucinotta, Carla Lintas, Pasquale Tomaiuolo, et al.
Molecular Genetics & Genomic Medicine|April 5, 2021
Investigating the ACE2 polymorphisms in COVID-19 susceptibility: An in silico analysisNasser Pouladi, Sepehr Abdolahi
Molecular Genetics & Genomic Medicine|April 3, 2021
Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancyJi Hong Park, Jung Min Ko, Min Sun Kim, et al.
Molecular Genetics & Genomic Medicine|April 9, 2021
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry diseaseDominique P Germain, Sergey Moiseev, Fernando Suárez-Obando, et al.
Molecular Genetics & Genomic Medicine|July 11, 2020
Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangementsAh J Lee, Da E Nam, Yu J Choi, et al.
Molecular Genetics & Genomic Medicine|July 12, 2020
Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short statureFei Wang, Sheng Guo, Pin Li
Molecular Genetics & Genomic Medicine|July 16, 2020
Development of an immune-related prognostic model for pediatric acute lymphoblastic leukemia patientsXi Quan, Nan Zhang, Ying Chen, et al.
Molecular Genetics & Genomic Medicine|July 25, 2020
Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON geneRyszard Slezak, Robert Smigiel, Malgorzata Rydzanicz, et al.
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