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zadetkov: 271
1.
  • MVP predicts the pathogenic... MVP predicts the pathogenicity of missense variants by deep learning
    Qi, Hongjian; Zhang, Haicang; Zhao, Yige ... Nature communications, 01/2021, Letnik: 12, Številka: 1
    Journal Article
    Recenzirano
    Odprti dostop

    Accurate pathogenicity prediction of missense variants is critically important in genetic studies and clinical diagnosis. Previously published prediction methods have facilitated the interpretation ...
Celotno besedilo
Dostopno za: NUK, UL, UM, UPUK

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2.
  • Genomic analyses implicate ... Genomic analyses implicate noncoding de novo variants in congenital heart disease
    Richter, Felix; Morton, Sarah U; Kim, Seong Won ... Nature genetics, 08/2020, Letnik: 52, Številka: 8
    Journal Article
    Recenzirano
    Odprti dostop

    A genetic etiology is identified for one-third of patients with congenital heart disease (CHD), with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution of ...
Celotno besedilo
Dostopno za: FZAB, GEOZS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ

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3.
  • De novo variants in congeni... De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
    Qi, Hongjian; Yu, Lan; Zhou, Xueya ... PLOS genetics, 12/2018, Letnik: 14, Številka: 12
    Journal Article
    Recenzirano
    Odprti dostop

    Congenital diaphragmatic hernia (CDH) is a severe birth defect that is often accompanied by other congenital anomalies. Previous exome sequencing studies for CDH have supported a role of de novo ...
Celotno besedilo
Dostopno za: DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK

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4.
  • Exome Sequencing in Childre... Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults
    Zhu, Na; Gonzaga-Jauregui, Claudia; Welch, Carrie L ... Circulation. Genomic and precision medicine, 04/2018, Letnik: 11, Številka: 4
    Journal Article
    Recenzirano
    Odprti dostop

    Pulmonary arterial hypertension (PAH) is a rare disease characterized by pulmonary arteriole remodeling, elevated arterial pressure and resistance, and subsequent heart failure. Compared with ...
Celotno besedilo
Dostopno za: UL

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5.
  • EM-mosaic detects mosaic po... EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
    Hsieh, Alexander; Morton, Sarah U; Willcox, Jon A L ... Genome medicine, 04/2020, Letnik: 12, Številka: 1
    Journal Article
    Recenzirano
    Odprti dostop

    The contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism ...
Celotno besedilo
Dostopno za: IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK

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6.
  • Contrasting Determinants of... Contrasting Determinants of Mutation Rates in Germline and Soma
    Chen, Chen; Qi, Hongjian; Shen, Yufeng ... Genetics, 09/2017, Letnik: 207, Številka: 1
    Journal Article
    Recenzirano
    Odprti dostop

    Recent studies of somatic and germline mutations have led to the identification of a number of factors that influence point mutation rates, including CpG methylation, expression levels, replication ...
Celotno besedilo
Dostopno za: NUK, UL, UM, UPUK

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7.
  • Ultrafast dynamics under hi... Ultrafast dynamics under high-pressure
    Tu, Hongyu; Pan, Lingyun; Qi, Hongjian ... Journal of physics. Condensed matter, 06/2023, Letnik: 35, Številka: 25
    Journal Article
    Recenzirano

    High-pressure is a mechanical method to regulate the structure and internal interaction of materials. Therefore, observation of properties' change can be realized in a relatively pure environment. ...
Celotno besedilo
Dostopno za: NUK, UL
8.
  • De novo mutations in congen... De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
    Homsy, Jason; Zaidi, Samir; Shen, Yufeng ... Science, 12/2015, Letnik: 350, Številka: 6265
    Journal Article
    Recenzirano
    Odprti dostop

    Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD ...
Celotno besedilo
Dostopno za: BFBNIB, NMLJ, NUK, ODKLJ, PNG, SAZU, UL, UM, UPUK

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9.
  • Contribution of rare inheri... Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
    Jin, Sheng Chih; Homsy, Jason; Zaidi, Samir ... Nature genetics, 11/2017, Letnik: 49, Številka: 11
    Journal Article
    Recenzirano
    Odprti dostop

    Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, ...
Celotno besedilo
Dostopno za: IJS, NUK, SBMB, UL, UM, UPUK

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10.
  • Deep Genetic Connection Bet... Deep Genetic Connection Between Cancer and Developmental Disorders
    Qi, Hongjian; Dong, Chengliang; Chung, Wendy K. ... Human mutation, October 2016, Letnik: 37, Številka: 10
    Journal Article
    Recenzirano
    Odprti dostop

    ABSTRACT Cancer and developmental disorders (DDs) share dysregulated cellular processes such as proliferation and differentiation. There are well‐known genes implicated in both in cancer and DDs. In ...
Celotno besedilo
Dostopno za: BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK

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zadetkov: 271

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