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Molecular Genetics & Genomic Medicine|September 4, 2021
Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencingSiyu Wang, Hairui Sun, Jianbin Wang, et al.
Molecular Genetics & Genomic Medicine|September 9, 2021
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern ChinaJinjie Li, Liu Yang, Yanjun Diao, et al.
Molecular Genetics & Genomic Medicine|August 1, 2022
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencingAnn-Kathrin Zaum, Indrajit Nanda, Wolfram Kress, et al.
Molecular Genetics & Genomic Medicine|May 5, 2021
Association between subjective well-being and perception of medical care system among patients with Marfan syndrome: A cross-sectional studyTomoko Shimizu, Yasuko Shimizu
Molecular Genetics & Genomic Medicine|May 5, 2021
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohortLiying Liu, Fang Liu, Qiuhong Wang, et al.
Molecular Genetics & Genomic Medicine|May 7, 2021
Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencingArun Shastry, Sankaramoorthy Aravind, Meeta Sunil, et al.
Molecular Genetics & Genomic Medicine|May 27, 2020
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1Xiaoxu Han, Shijing Wu, Min Wang, et al.
Molecular Genetics & Genomic Medicine|May 19, 2020
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onsetAna T Marcos, Diego Amorós, Beatriz Muñoz-Cabello, et al.
Molecular Genetics & Genomic Medicine|June 25, 2020
Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU geneKarolina Pierzynowska, Arkadiusz Mański, Monika Limanówka, et al.
Molecular Genetics & Genomic Medicine|May 3, 2021
More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3ACaroline Caetano da Silva, Manon Ricquebourg, Philippe Orcel, et al.
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