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Cerebellar structure and function abnormalities in 16p11.2 microduplication mice
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Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study
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Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum
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Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature
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The forbidden doubling: exploring rare spermatocyte polyploidy in mammals
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Drude: morphobiometry, morphoanatomy, and viability by tetrazolium test in a rare Brazilian palm
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Craniometaphyseal dysplasia with severe maxillary hypoplasia due to gene mutation: A case report
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Sequence context and methylation interact to shape germline mutation rate variation at CpG sites
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MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2
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A Case of Nonimmune Hydrops Fetalis With a Duct-Dependent Systemic Circulation and a Novel Mutation of Kabuki Syndrome
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Novel MYH11 Splice Site Variant Causing Exon Skipping in a Family With Thoracic Aortic Aneurysms and Dissections
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Mutation screening of pre-eclampsia candidate genes, LEP (ob) and LEPR (obR)
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Real‐world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2‐q13.1 duplication and deletion syndromes: A multicenter study
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First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum
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Development of a protocol for efficient mutation breeding in Apple, Malus
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Mutation analysis of important retinal candidate genes: progression from research to diagnostic service
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A molecular investigation of Huntington disease; origins of the mutation and current prevalence in South Africa
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Mutations in the serine/threonine protein kinase gene, STK11, in sporadic colorectal cancer
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Mutation analysis of four genes implicated in iron homeostasis in porphyria cutanea tarda (PCT) patients
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The functional significance of the G to A point mutation in the promoter region of the Apolipoprotein AI gene
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The molecular characterisation of Mss11p, a transcriptional activator of the Saccharomyces cerevisiae MUC1 and STA1-3 genes
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Molecular analysis of GJB2 (connexin 26) and GJB6 (connexin 30) gene mutations in non-syndromic hereditary deafness in South Africa
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Leveraging Whole Genome Sequences to Compare Mutational Mechanism and Identify Medically Relevant Variation in African versus Non-African Descend Populations
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Analysis of the mobilization region of the broad host-range IncQ-like plasmid, pTC-F14, and its ability to interact with a related plasmid, pTF-FC2
