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Molecular Genetics & Genomic Medicine|March 25, 2015
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencingAlexander P Drew, Danqing Zhu, Aditi Kidambi, et al.
Molecular Genetics & Genomic Medicine|July 27, 2020
Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiencyLijun Fan, Yanning Song, Michel Polak, et al.
Molecular Genetics & Genomic Medicine|July 7, 2020
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndromeLaura Fontana, Maria F Bedeschi, Giulia A Cagnoli, et al.
Molecular Genetics & Genomic Medicine|July 7, 2020
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defectDi Huang, Jennifer A Thompson, Jason Charng, et al.
Molecular Genetics & Genomic Medicine|August 2, 2020
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVSAngèle Tingaud-Sequeira, Aurélien Trimouille, Sandrine Marlin, et al.
Molecular Genetics & Genomic Medicine|February 27, 2023
Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature reviewFeng Tang, Yang Zeng, Li Wang, et al.
Molecular Genetics & Genomic Medicine|June 20, 2020
Functional polymorphisms of the mineralocorticoid receptor gene NR3C2 are associated with diminished memory decline: Results from a longitudinal general-population studyJan Terock, Sandra Van der Auwera, Deborah Janowitz, et al.
Molecular Genetics & Genomic Medicine|August 5, 2022
Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicismRuchi Punatar, Alena Egense, Rong Mao, et al.
Molecular Genetics & Genomic Medicine|August 9, 2022
Exploration of the interchromosomal effects in preimplantation genetic testing for structural rearrangements based on next-generation sequencingJunmei Fan, Xueluo Zhang, Yanhua Chen, et al.
Molecular Genetics & Genomic Medicine|August 10, 2022
Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature reviewHui Zhou, Bin Jiao, Ziyu Ouyang, et al.
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