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Journal Article
Journal of Crohn's and Colitis, ISSN 1873-9946, 08/2018, Volume 12, Issue 9, pp. 1104 - 1112
Background and Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases... 
paediatrics | TNGS | VEO-IBD | Genetics and molecular epidemiology | monogenic disorders | EVOLVING WEB | ENTEROPATHY | X-LINKED INHIBITOR | PRIMARY IMMUNODEFICIENCIES | DISORDERS | DEFICIENCY | IMMUNE DYSREGULATION | GENETIC-VARIATION | GERMLINE MUTATIONS | CTLA4 | GASTROENTEROLOGY & HEPATOLOGY | Editor's Choice | Original
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 09/2017, Volume 95, Issue S259, p. n/a
Hereditary vitreoretinopathies ( VRP s), traditionally divided into the groups of exudative and degenerative VRP s, encompass a number of diseases affecting... 
Sequences | Copy number | Retina | Genetic screening | Defects | Screening | Detachment | Collagen (type IX) | LRP5 protein | Diagnostic systems | Exudation | Children | Diagnosis | Mutation
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 09/2017, Volume 95, Issue S259, p. n/a
Hereditary corneal dystrophies are a group of diverse bilateral disorders usually classified anatomically according to the layer of the cornea affected. They... 
Cornea | Exons | Genes | Disorders | Genetics | Libraries | Mutation | Gene sequencing | Hereditary diseases
Journal Article
BLOOD, ISSN 0006-4971, 07/2019, Volume 134, Issue 1, pp. 9 - 21
Evans syndrome (ES) is a rare severe autoimmune disorder characterized by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. In most... 
HEMOLYTIC-ANEMIA | DISEASE | DYSREGULATION | STAT3 | LYMPHOPROLIFERATIVE SYNDROME | CELL-FUNCTION | MUTATIONS | HEMATOLOGY | T-CELLS | ONSET | SELF-TOLERANCE
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 09/2017, Volume 95, Issue S259, p. n/a
Developmental anomalies of the anterior segment of the eye encompasse a spectrum of disorders affecting the cornea, iris, lens, ciliary body, and/or the... 
Cataract | Genetic disorders | Cataracts | Cornea | Congenital diseases | Exons | Genes | Disorders | Gene sequencing | Eye | Libraries | Children | Diagnosis | Anomalies | Eye lens
Journal Article
Archives de pédiatrie, ISSN 0929-693X, 12/2017, Volume 24, Issue 12, pp. 1332 - 1332
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.arcped.2017.10.013... 
Deafness | Gene mutations | Genes | Genetic transcription | DNA binding proteins | Kidney diseases | Nucleotide sequencing | DNA sequencing
Journal Article
Journal Article
Journal Article
NEPHROLOGY DIALYSIS TRANSPLANTATION, ISSN 0931-0509, 05/2016, Volume 31, pp. 353 - 353
Conference Proceeding
NATURE ECOLOGY & EVOLUTION, ISSN 2397-334X, 05/2019, Volume 3, Issue 5, pp. 801 - 810
Jellyfish (medusae) are a distinctive life-cycle stage of medusozoan cnidarians. They are major marine predators, with integrated neurosensory, muscular and... 
EVOLUTIONARY BIOLOGY | ORIGINS | EXPRESSION ANALYSIS | SUPPORTS SPONGES | DIVERSIFICATION | FAMILIES | GENE-EXPRESSION | ECOLOGY | R-PACKAGE | RNA-SEQ DATA | SISTER GROUP | AXIS | Life Sciences | Invertebrate Zoology | Populations and Evolution | Animal biology | Biodiversity | Quantitative Methods
Journal Article
Molecular Pathology, ISSN 0022-2593, 05/2000, Volume 54, Issue 5, p. 324
Aims—Differential display reverse transcription polymerase chain reaction (RT-PCR) was performed to identify genes associated with the invasive potential of... 
Journal Article
Revue Neurologique, ISSN 0035-3787, 03/2017, Volume 173, pp. S152 - S152
Journal Article