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Academic Journal

A deep catalogue of protein-coding variation in 983,578 individuals.

Subjects: Exome*/Exome*/Exome*/genetics ; Genetic Variation*/Genetic Variation*/Genetic Variation*/genetics ; Proteins*/Proteins*/Proteins*/genetics

  • Source: Nature [Nature] 2024 Jul; Vol. 631 (8021), pp. 583-592. Date of Electronic Publication: 2024 May 20.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review.

  • Authors : Zhang J; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.; Lu Y

Subjects: Exome* ; Proteins*; Adaptor Proteins, Signal Transducing

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Oct; Vol. 10 (10), pp. e2036. Date of Electronic Publication: 2022 Aug 13.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families.

  • Authors : Madhangi M; Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India.; Dutta D

Subjects: Exome* ; Mutation*; Corneal Diseases/Corneal Diseases/Corneal Diseases/*pathology Microspherophakia

  • Source: Human molecular genetics [Hum Mol Genet] 2021 Apr 30; Vol. 30 (6), pp. 467-484.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

GC content of vertebrate exome landscapes reveal areas of accelerated protein evolution.

  • Authors : Huttener R; Gene Expression Unit, Dept of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium.; Thorrez L

Subjects: Evolution, Molecular*; Base Composition/Base Composition/Base Composition/*genetics ; Exome/Exome/Exome/*genetics

  • Source: BMC evolutionary biology [BMC Evol Biol] 2019 Jul 16; Vol. 19 (1), pp. 144. Date of Electronic Publication: 2019 Jul 16.Publisher: BioMed Central Country of Publication: England NLM ID: 100966975 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2148

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Academic Journal

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.

  • Authors : Schrauwen I; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Giese AP

Subjects: Ciliopathies*/Ciliopathies*/Ciliopathies*/genetics ; Ciliopathies*/Ciliopathies*/Ciliopathies*/metabolism ; Ciliopathies*/Ciliopathies*/Ciliopathies*/pathology Polydactyly, Postaxial

  • Source: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2019 Feb; Vol. 34 (2), pp. 375-386. Date of Publisher: American Society for Bone and Mineral Research Country of Publication: United States NLM ID: 8610640 Publication Model: Print-Electronic Cited

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Academic Journal

Two novel susceptibility loci for type 2 diabetes mellitus identified by longitudinal exome-wide association studies in a Japanese population.

  • Authors : Yasukochi Y; Department of Human Functional Genomics, Advanced Science Research Promotion Center, Mie University, Tsu 514-8507, Japan; CREST, Japan Science and Technology Agency, Kawaguchi 332-0012, Japan. Electronic address: .

Subjects: Genome-Wide Association Study*; Adaptor Proteins, Vesicular Transport/Adaptor Proteins, Vesicular Transport/Adaptor Proteins, Vesicular Transport/*genetics ; Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/*genetics

  • Source: Genomics [Genomics] 2019 Jan; Vol. 111 (1), pp. 34-42. Date of Electronic Publication: 2017 Dec 19.Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Imprinting: the Achilles heel of trio-based exome sequencing.

  • Authors : Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Fountain MD

Subjects: Exome*; Genomic Imprinting/Genomic Imprinting/Genomic Imprinting/*physiology ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Nov; Vol. 18 (11), pp. 1163-1164. Date of Electronic Publication: 2016 Sep 15.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Improved canine exome designs, featuring ncRNAs and increased coverage of protein coding genes.

  • Authors : Broeckx BJ; Laboratory of Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium.; Hitte C

Subjects: Exome* ; RNA, Untranslated*; Dogs/Dogs/Dogs/*genetics

  • Source: Scientific reports [Sci Rep] 2015 Aug 03; Vol. 5, pp. 12810. Date of Electronic Publication: 2015 Aug 03.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8.

  • Authors : Ichinose Y; Department of Neurology, Graduate School of Medical Science, University of Yamanashi, Yamanashi 409-3898, Japan.; Koh K

Subjects: Asian People/Asian People/Asian People/*genetics ; Exome/Exome/Exome/*genetics ; Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics Spastic Paraplegia Type 8

  • Source: Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2016 May; Vol. 144, pp. 36-8. Date of Electronic Publication: 2016 Mar 04.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7502039 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.

  • Authors : Wain LV; University of Leicester, Department of Health Sciences, Leicester, United Kingdom.; Sayers I

Subjects: Exome*; Cilia/Cilia/Cilia/*physiology ; Proteins/Proteins/Proteins/*physiology

  • Source: PLoS genetics [PLoS Genet] 2014 May 01; Vol. 10 (5), pp. e1004314. Date of Electronic Publication: 2014 May 01 (Print Publication: 2014).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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  • 1-10 of  3,082 results for ""Exome""