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BMJ Open, ISSN 2044-6055, 05/2016, Volume 6, Issue 5, p. e011144
Journal Article
Journal Article
Journal Article
Gene, ISSN 0378-1119, 07/2018, Volume 663, pp. 110 - 114
Patients with Silver-Russell syndrome (SRS), a syndromic growth retardation syndrome, usually harbor an epimutation at chromosome 11p15 or a maternal... 
Dwarfism | Germ-line mutation | Differential diagnosis | Dna copy number variation | Sequence deletion | Whole exome sequencing | PHENOTYPE | TUMORS | ADULT | HUMAN HEIGHT | LIPOMAS | CLINICAL SCORING SYSTEM | MUTATION | GROWTH | GENETICS & HEREDITY | COMMON | BINDING | Chromosomal proteins | Gene mutations | Analysis | Genes | Genomics | Genetic research | Genetic transcription | Genetic screening
Journal Article
Journal Article
Epidemiology, ISSN 1044-3983, 07/2016, Volume 27, Issue 4, pp. e26 - e28
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 03/2019, Volume 104, Issue 3, pp. 845 - 855
Objective: To characterize the initial presentation and clinical course of patients with hepatocyte nuclear factor (HNF) 4A and HNF1BMODY in a multinational... 
DIABETES-MELLITUS | YOUNG MODY | DIAGNOSIS | ADOLESCENTS | CLINICAL SPECTRUM | ENDOCRINOLOGY & METABOLISM | METABOLIC-CONTROL | CHILDHOOD | BLOOD-PRESSURE | ONSET | CHILDREN
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, p. e74339
Journal Article