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Human Mutation, ISSN 1059-7794, 07/2010, Volume 31, Issue 7, pp. 840 - 850
Journal Article
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 08/2015, Volume 167, Issue 8, pp. 1842 - 1850
Defects of long-range regulatory elements of dosage-sensitive genes represent an under-recognized mechanism underlying genetic diseases. Haploinsufficiency of... 
Chromatin looping | Long distance gene regulation | Low bone mass
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2019, Volume 179, Issue 11, pp. 2272 - 2276
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disease. Affected infants manifest with severe... 
FOXF1 haploinsufficiency | tandem repeats | recurrent mutation | CpG island | Hypertension | Dysplasia | Genetic aspects | Gene mutations | Veins | Lung diseases | Infants | Nucleotides | Mutation | Alveoli | CpG islands
Journal Article
Journal Article
Journal Article