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Molecular Genetics & Genomic Medicine|June 2, 2015
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approachIsabel Marques, Maria João Sá, Gabriela Soares, et al.
Molecular Genetics & Genomic Medicine|January 21, 2016
Fam83h null mice support a neomorphic mechanism for human ADHCAIShih-Kai Wang, Yuanyuan Hu, Jie Yang, et al.
Molecular Genetics & Genomic Medicine|June 16, 2026
X-Linked Intellectual Developmental Disorder-93 Caused by BRWD3 Mutation in Females: A Case Report and Literature ReviewYang Xiu, Yige Zhang, Yake Jiao, et al.
Molecular Genetics & Genomic Medicine|March 31, 2021
Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotypeMaria Elisa Amodeo, Elena Inzaghi, Annalisa Deodati, et al.
Molecular Genetics & Genomic Medicine|July 2, 2026
Novel DMD Frameshift Variant (p.Leu2017Profs*5) in Spectrin-Like Repeat 16 Expands the Mutational Spectrum of DMDYu-Chin Lin, G W Gant Luxton, Hwei-Jen Lee, et al.
Molecular Genetics & Genomic Medicine|July 3, 2026
Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart DiseaseBenjamin M Helm, Leah Wetherill, Benjamin J Landis, et al.
Molecular Genetics & Genomic Medicine|July 7, 2026
The Use of Population Isolates to Identify Metabolic Syndrome's Genetic AetiologyJacob W I Meyjes-Brown, Heidi G Sutherland, Rodney A Lea, et al.
Molecular Genetics & Genomic Medicine|August 17, 2026
Y Chromosome Haplogroups and Susceptibility to Esophageal Squamous Cell Carcinoma: An Exploratory Association and Diagnostic Modeling StudyXueji Shi, Nian Wang, Wenjing Zhou, et al.
Molecular Genetics & Genomic Medicine|August 8, 2026
Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case ReportEvripidis Pityrigkas, Vasiliki Poulidou, Stefania Kalampokini, et al.
Molecular Genetics & Genomic Medicine|August 27, 2026
Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA AnalysisNatsuki Nakamura, Yosuke Nishio, Hiromi Nyuzuki, et al.
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