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Molecular Genetics & Genomic Medicine|September 23, 2022
Association of ACE1 I/D rs1799752 and ACE2 rs2285666 polymorphisms with the infection and severity of COVID-19: A meta-analysisMd Abdul Aziz, Mohammad Safiqul Islam
Molecular Genetics & Genomic Medicine|September 24, 2022
Resource utilization and multidisciplinary care needs for patients with Ehlers-Danlos syndromeJordan T Jones, William R Black, Wendy Cogan, et al.
Molecular Genetics & Genomic Medicine|October 17, 2022
A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature reviewSukun Luo, Yanqiu Hu, Ping Xiong, et al.
Molecular Genetics & Genomic Medicine|September 28, 2022
Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disordersKunfang Yang, Longlong Lin, Fang Yuan, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMASusan M Kirwin, Kathy M B Vinette, Iris L Gonzalez, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
The +3187A/G HLA-G polymorphic site is associated with polar forms and reactive reaction in leprosyN Lucena-Silva, M A G Teixeira, A de L Ramos, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemiaEllen R A Thomas, Santosh S Atanur, Penny J Norsworthy, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Identification of novel point mutations in splicing sites integrating whole-exome and RNA-seq data in myeloproliferative diseasesRoberta Spinelli, Alessandra Pirola, Sara Redaelli, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Two novel mutations identified in familial cases with Donohue syndromeTzipora C Falik Zaccai, Limor Kalfon, Aharon Klar, et al.
Molecular Genetics & Genomic Medicine|January 20, 2025
A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature ReviewYing Yang, Liqing Chen, Zhenzhen Wang, et al.
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