Imagine Institute for Genetic Diseases View Homepage


Ontology type: grid:Facility  | foaf:Organization     


Organization Info

NAME

Imagine Institute for Genetic Diseases

HOMEPAGE

http://www.institutimagine.org/en/

ADDRESS

http://www.grid.ac/institutes/grid.462336.6/address-0

Publications in SciGraph latest 20 shown

  • 2019-12 NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans in GENOME BIOLOGY
  • 2019-12 Genotoxic stress increases cytoplasmic mitochondrial DNA editing by human APOBEC3 mutator enzymes at a single cell level in SCIENTIFIC REPORTS
  • 2019-12 Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly in NATURE COMMUNICATIONS
  • 2019-12 CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations in NATURE COMMUNICATIONS
  • 2019-04 Author Correction: U-Net: deep learning for cell counting, detection, and morphometry in NATURE METHODS
  • 2019-04 Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract in NATURE GENETICS
  • 2019-03-12 Nephrotic syndrome and mitochondrial disorders: answers in PEDIATRIC NEPHROLOGY
  • 2019-03-12 Nephrotic syndrome and mitochondrial disorders: Questions in PEDIATRIC NEPHROLOGY
  • 2019-03-11 Gene therapy targeting haematopoietic stem cells for inherited diseases: progress and challenges in NATURE REVIEWS DRUG DISCOVERY
  • 2019-03-05 Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2019-03 Creatine kinase pathway inhibition alters GSK3 and WNT signaling in EVI1-positive AML in LEUKEMIA
  • 2019-03 An essential role for the Zn2+ transporter ZIP7 in B cell development in NATURE IMMUNOLOGY
  • 2019-02-04 Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2019-02 Neurological Involvement in Childhood Evans Syndrome in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2019-02 A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria in DIABETOLOGIA
  • 2019-01-25 Frequent structural variations involving programmed death ligands in Epstein-Barr virus-associated lymphomas in LEUKEMIA
  • 2019-01-25 Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies in GENETICS IN MEDICINE
  • 2019-01-16 Idiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease in PEDIATRIC RADIOLOGY
  • 2019-01 DDX58 and Classic Singleton-Merten Syndrome in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2019-01 U-Net: deep learning for cell counting, detection, and morphometry in NATURE METHODS
  • JSON-LD is the canonical representation for SciGraph data.

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