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Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 07/2019, Volume 10, p. 1685
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by progressive presenile dementia and bone cysts, caused by variants in either... 
NK cells | GROWTH-RETARDATION | DEMENTIA | CELL-DEFICIENCY | bone cysts | HUMAN HEALTH | neurodegeneration | DAP12 | TREM2 | IMMUNOLOGY | TYROBP | MUTATIONS | Nasu-Hakola disease (NHD) | autoantibodies | microglia | Development and progression | Dysplasia | Killer cells | Phenotype | Research | Risk factors
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 71 - 77
Ets‐1 is a member of the Ets family of transcription factors and has critical roles in multiple biological functions. Structural kidney defects occur at an... 
Jacobsen syndrome | kidney defects | Ets‐1 transcription factor | Ets-1 transcription factor | ETS protein | Transcription factors | Kidneys | Clonal deletion | Chromosome 11 | Gene deletion | Pelvis | Defects
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 816 - 825
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare... 
CNV | phenotypic variability | 16p11.2 deletion | autism | modifier | SUPPORTS | SCHIZOPHRENIA | MODEL | REARRANGEMENTS | PENETRANCE | GENETICS & HEREDITY | 16P12.1 | MUTATIONS | DELETIONS | EXPRESSION | Life Sciences | Genetics | Human genetics
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2016, Volume 24, Issue 5, pp. 652 - 659
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2501 - 2508
Wolf–Hirschhorn syndrome is a well‐defined disorder due to 4p16.3 deletion, characterized by distinct facial features, intellectual disability, prenatal and... 
mir‐943 | Wolf–Hirschhorn syndrome | gene | CHD | NSD2 | NSD2 gene | mir-943 | DEFECT | PHENOTYPE | WOLF-HIRSCHHORN-SYNDROME | LETM1 | SEIZURES | DOWN-SYNDROME | GENETICS & HEREDITY | NKX2-5 | Wolf-Hirschhorn syndrome | CRITICAL REGION | Coronary heart disease | Seizures (Medicine) | Literature reviews | Phenotypes | Microencephaly | Growth rate | Clonal deletion | Pathogenesis | Physical growth | Mental retardation | Growth disorders | Genotypes | Seizures
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2013, Volume 21, Issue 8, pp. 816 - 823
For a disorder as common as fragile X syndrome, the most common hereditary form of cognitive impairment, the facial features are relatively ill defined. An... 
Craniofacial features | Fragile X syndrome | Dense-surface modelling | fmr1 KO mouse | DYSMORPHOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | fragile X syndrome | PHENOTYPE | MODEL | craniofacial features | FACIAL MORPHOLOGY | POSTERIOR-FOSSA | dense-surface modelling | MARTIN-BELL SYNDROME | GENETICS & HEREDITY | NEUROANATOMY | MICE | FACE SHAPE | Humans |