Source: Genome MedmedRxivGenome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)Josephs, Katherine S; Roberts, Angharad M; Theotokis, Pantazis; Walsh, Roddy; Ostrowski, Philip J; Edwards, Matthew;

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An improved reference of the grapevine genome reasserts the origin of the PN40024 highly homozygous genotype

Authors : Amandine Velt; Bianca Frommer; Sophie Blanc ...

Subjects: Genotype; Cultivos leñosos; improved annotation

Source: G3 (Bethesda)Digital.CSIC. Repositorio Institucional del CSICConsejo Superior de Investigaciones Científicas (CSIC)citaREA. Repositorio Institucional del CITACentro de

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'Isolated' Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

Authors : Anne-Laure Bonnet; Kevin Sceosole; Arabelle Vanderzwalm

Subjects: 03 medical and health sciences; 0302 clinical medicine; Genetics

Source: Case Rep GenetCase Reports in Genetics, Vol 2020 (2020)

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ACaenorhabditis elegansModel for Integrating the Functions of Neuropsychiatric Risk Genes Identifies Components Required for Normal Dendritic Morphology

Authors : Cristina Aguirre-Chen; Natalia Stec; Olivia Mendivil Ramos

Subjects: 0301 basic medicine; Autism Spectrum Disorder; autism

Source: G3 (Bethesda)G3: Genes, Genomes, Genetics, Vol 10, Iss 5, Pp 1617-1628 (2020)

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Improving the Chromosome-Level Genome Assembly of the Siamese Fighting Fish (Betta splendens) in a University Master’s Course

Authors : Deepak K. Gupta; Sarah Joy Hahn; Axel Janke

Subjects: 0301 basic medicine; Universities; 0206 medical engineering

Source: G3 (Bethesda)G3: Genes, Genomes, Genetics, Vol 10, Iss 7, Pp 2179-2183 (2020)

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A dual sgRNA library design to probe genetic modifiers using genome-wide CRISPRi screens

Authors : Guna, Alina; Page, Katharine R.; Replogle, Joseph M. ...

Subjects: 0301 basic medicine; Genome-wide screen; 0303 health sciences

Source: bioRxivBMC GenomicsBMC Genomics, Vol 24, Iss 1, Pp 1-13 (2023)

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Transposition of HOPPLA in siRNA-deficient plants suggests a limited effect of the environment on retrotransposon mobility in Brachypodium distachyon

Authors : Thieme, Michael; Minadakis, Nikolaos; Himber, Christophe ...

Subjects: 2716 Genetics (clinical); Retroelements; DNA Copy Number Variations

Source: PLoS GenetPLoS Genetics, Vol 20, Iss 3, p e1011200 (2024)PLOS Genetics, vol 20, iss 3

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Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation

Authors : Nivedita U. Jerath

Subjects: 0301 basic medicine; 03 medical and health sciences; 0302 clinical medicine

Source: Case Rep GenetCase Reports in Genetics, Vol 2019 (2019)

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فلترة النتائج

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder

Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

An improved reference of the grapevine genome reasserts the origin of the PN40024 highly homozygous genotype

'Isolated' Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

ACaenorhabditis elegansModel for Integrating the Functions of Neuropsychiatric Risk Genes Identifies Components Required for Normal Dendritic Morphology

Improving the Chromosome-Level Genome Assembly of the Siamese Fighting Fish (Betta splendens) in a University Master’s Course

A dual sgRNA library design to probe genetic modifiers using genome-wide CRISPRi screens

Transposition of HOPPLA in siRNA-deficient plants suggests a limited effect of the environment on retrotransposon mobility in Brachypodium distachyon

Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation

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