نتائج البحث

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID:An emerging neurodevelopmental syndrome

• Authors : Ismail, Vardha; Zachariassen, Linda G.; Godwin, Annie

Subjects: AMPA-RECEPTOR; GLUTAMATE-RECEPTOR; XENOPUS-LAEVIS

• Source: Ismail , V , Zachariassen , L G , Godwin , A , Sahakian , M , Ellard , S , Stals , K L , Baple , E , Brown , K T , Foulds , N , Wheway , G , Parker , M O , Lyngby , S M , Pedersen , M G , Desir , J ,

تفاصيل العنوان

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID:An emerging neurodevelopmental syndrome

• Authors : Ismail, Vardha; Zachariassen, Linda G.; Godwin, Annie

Subjects: AMPA receptor; CRISPR; glutamate receptor 1

• Source: Ismail , V , Zachariassen , L G , Godwin , A , Sahakian , M , Ellard , S , Stals , K L , Baple , E , Brown , K T , Foulds , N , Wheway , G , Parker , M O , Lyngby , S M , Pedersen , M G , Desir , J ,

تفاصيل العنوان

Functional annotation of variants of the BRCA2 gene via locally haploid human pluripotent stem cells

• Authors : Li, Hanqin; Bartke, Rebecca; Zhao, Lei

• Source: Li , H , Bartke , R , Zhao , L , Verma , Y , Horacek , A , Rechav Ben-Natan , A , Pangilinan , G R , Krishnappa , N , Nielsen , R & Hockemeyer , D 2024 , ' Functional

تفاصيل العنوان

The usual Interstitial pneumonia pattern in autoimmune rheumatic diseases

• Authors : Luppi, Fabrizio; Manfredi, Andreina; Faverio, Paola

Subjects: Antifibrotic treatment; Autoimmune rheumatic disease; Diagnosis

• Source: Luppi , F , Manfredi , A , Faverio , P , Andersen , M B , Bono , F , Pagni , F , Salvarani , C , Bendstrup , E & Sebastiani , M 2023 , ' The usual Interstitial pneumonia pattern in autoimmune

تفاصيل العنوان

Identification of GDF15 peptide fragments inhibiting GFRAL receptor signaling

• Authors : Alexopoulou, Flora; Buch-Månson, Nina; Pedersen, Søren Ljungberg

Subjects: Cachexia; GDF15; GFRAL

• Source: Alexopoulou , F , Buch-Månson , N , Pedersen , S L , Vrang , N , Fink , L N & Strømgaard , K 2023 , ' Identification of GDF15 peptide fragments inhibiting GFRAL receptor signaling ' , Peptides ,

تفاصيل العنوان

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

• Authors : Djursby, Malene; Wadt, Karin; Frederiksen, Jane Hübertz

Subjects: Adenocarcinoma; APC; Colorectal cancer

• Source: Djursby , M , Wadt , K , Frederiksen , J H , Madsen , M B , Berchtold , L A , Hasselby , J P , Willemoe , G L , Hansen , T V O & Gerdes , A M 2020 , ' A rare missense variant in APC interrupts

تفاصيل العنوان

Assessment Of The Correlation Between Dynamic Contrast Enhanced Computed Tomography And Histological And Vascular Biomarkers In Patients Resected For Colorectal Liver Metastases

• Authors : Lauridsen, Carsten; Axelsen, Thomas; Hansen, Martin Lundsgaard

• Source: Lauridsen , C , Axelsen , T , Hansen , M L , Fallentin , E , Nielsen , M B , Eefsen , R L , Illemann , M , Engelholm , L , Vainer , B , Hoyer-hansen , G , Lund , I K , Willemoe , G L , Rolff , H C ,

تفاصيل العنوان