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OpenAlex topic

Nuclear Structure and Function

This page lists works and academicians tagged with an OpenAlex topic. It is not a YÖKSİS primary or secondary field.

OpenAlex 745 works 11 author topics

Works

745 works

  1. The Caenorhabditis elegans Centrosomal Protein SPD-2 Is Required for both Pericentriolar Material Recruitment and Centriole Duplication 2004
    OpenAlex top 10% OpenAlex 93.7%

    No abstract yet.

  2. Mutations in nuclear pore genes NUP93 NUP205 and XPO5 cause steroid resistant nephrotic syndrome 2016
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.6%

    No abstract yet.

  3. Genetic heterogeneity in Cornelia de Lange syndrome CdLS and CdLS like phenotypes with observed and predicted levels of mosaicism 2014
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 97.8%

    BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significa…

  4. The clinical characteristics of Werner syndrome molecular and biochemical diagnosis 2008
    YÖKSİS SJR Q2 JCR Q1 OpenAlex top 10% OpenAlex 96.8%

    No abstract yet.

  5. Mutation in Exon 1f of PLEC Leading to Disruption of Plectin Isoform 1f Causes Autosomal Recessive Limb Girdle Muscular Dystrophy 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 94.1%

    No abstract yet.

  6. Mutation in Exon 1f of PLEC Leading to Disruption of Plectin Isoform 1f Causes Autosomal Recessive Limb Girdle Muscular Dystrophy 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 94.1%

    No abstract yet.

  7. Mutation in Exon 1f of PLEC Leading to Disruption of Plectin Isoform 1f Causes Autosomal Recessive Limb Girdle Muscular Dystrophy 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 93.8%

    No abstract yet.

  8. Organization of SCP1 protein molecules within synaptonemal complexes of the rat 1996
    YÖKSİS SJR Q1 JCR Q1 OpenAlex 87.6%

    No abstract yet.

  9. Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome 2014
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 93.9%

    CONTEXT: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown. OBJECTIVE: We aimed to provide insight into the disease mechanism in GHS. METHODS: We studied…

  10. Loss of Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome 2014
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 93.9%

    CONTEXT: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown. OBJECTIVE: We aimed to provide insight into the disease mechanism in GHS. METHODS: We studied…

  11. Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome 2014
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 93.9%

    CONTEXT: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown. OBJECTIVE: We aimed to provide insight into the disease mechanism in GHS. METHODS: We studied…

  12. Loss of Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome 2014
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 93.9%

    CONTEXT: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown. OBJECTIVE: We aimed to provide insight into the disease mechanism in GHS. METHODS: We studied…

Academicians

11 academicians