OpenAlex konusu

Nuclear Structure and Function

Bu sayfa OpenAlex konu etiketine göre çalışmaları ve o konuda görünen akademisyenleri listeler. YÖKSİS temel alan / yan dal değildir.

OpenAlex 587 eser 11 yazar konusu

Çalışmalar

587 eser

Preconcentration of mercury II from waters using glycidyl methacrylate methyl methacrylate divinyl benzene terpolymer with diethylenetriamine tetra acetic acid functions prior to inductively coupled plasma mass spectrometric determination 2016
YÖKSİS SJR Q2 JCR Q2 OpenAlex üst %1 OpenAlex 99.5%
Özet henüz yok.
- BÜNYAMİN KARAGÖZ
The Caenorhabditis elegans Centrosomal Protein SPD-2 Is Required for both Pericentriolar Material Recruitment and Centriole Duplication 2004
OpenAlex üst %10 OpenAlex 93.7%
Özet henüz yok.
Mutations in nuclear pore genes NUP93 NUP205 and XPO5 cause steroid resistant nephrotic syndrome 2016
YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.6%
Özet henüz yok.
- FATİH ÖZALTIN
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 üst %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…
- HÜLYA KAYSERİLİ KARABEY
The clinical characteristics of Werner syndrome molecular and biochemical diagnosis 2008
YÖKSİS SJR Q2 JCR Q1 OpenAlex üst %10 OpenAlex 96.8%
Özet henüz yok.
- MELTEM MÜFTÜOĞLU
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 üst %10 OpenAlex 93.8%
Özet henüz yok.
- AYŞE NURTEN AKARSU
Organization of SCP1 protein molecules within synaptonemal complexes of the rat 1996
YÖKSİS SJR Q1 JCR Q1 OpenAlex 87.6%
Özet henüz yok.
- RALPH LEO JOHAN MEUWISSEN
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 üst %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…
- FATİH GÜRBÜZ
An essential splice site mutation c 317 1G A in the TSHR gene leads to severe thyroid dysgenesis 2014
YÖKSİS SJR Q2 JCR Q4 OpenAlex üst %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…
- ERDAL EREN
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 üst %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…
- HALİSE NESLİHAN ÖNENLİ MUNGAN
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 üst %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…
- AYŞE FİLİZ KOÇ
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 üst %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…
- AYŞE FİLİZ KOÇ

Akademisyenler

11 akademisyen