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Journal of Paediatrics and Child Health, ISSN 1034-4810, 06/2019, Volume 55, Issue 6, pp. 711 - 714
Journal Article
Clinical Endocrinology, ISSN 0300-0664, 05/2019, Volume 90, Issue 5, pp. 766 - 769
16p11.2 microdeletion syndrome is a recognisable chromosomal anomaly caused by microdeletions in the 16p11.2 locus. It is characterised by developmental delay,... 
hyperinsulinaemic hypoglycaemia | phenotype | Diazoxide | hypoketotic | 16p11.2 deletion syndrome | MICRODELETION | GENE | 16p11 | 2 deletion syndrome | ENDOCRINOLOGY & METABOLISM | Clonal deletion | Hypoglycemia
Journal Article
Journal of Paediatrics and Child Health, ISSN 1034-4810, 06/2018, Volume 54, Issue 6, pp. 707 - 708
Journal Article
Journal of Paediatrics and Child Health, ISSN 1034-4810, 06/2018, Volume 54, Issue 6, pp. 707 - 708
Journal Article
2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC), ISSN 1094-687X, 08/2015, Volume 2015-, pp. 2407 - 2410
This work introduces a novel method for the detection and segmentation of protein spots in 2D-gel images. A multi-thresholding approach is utilized for the... 
Proteins | Algorithm design and analysis | Image segmentation | Image analysis | Shape | Proteomics | Electrophoresis, Gel, Two-Dimensional | Algorithms | Image Processing, Computer-Assisted - methods | Conferences | Segmentation | Spots | Biology | Image detection
Conference Proceeding
IEEE Journal of Biomedical and Health Informatics, ISSN 2168-2194, 05/2014, Volume 18, Issue 3, pp. 1098 - 1098
In the above-named work [ibid., vol. 18, no. 1, pp. 67-76, Jan. 2014], the sub-figures of Fig. 11 appeared in a different/incorrect order. The correct figure... 
Proteins | Image segmentation | Image recognition | Image analysis | Proteomics
Journal Article
Current pediatric reviews, 03/2019
Congenital heart disease is present in almost 1% of live births and despite current progress in prenatal screening a significant percentage has delayed... 
Journal Article
Pediatric Diabetes, ISSN 1399-543X, 12/2017, Volume 18, Issue 8, pp. 839 - 843
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 09/2019, Volume 32, Issue 9, pp. 987 - 994
Background: Insulin-like 3 hormone (INSL3) is involved in the process of testicular descent, and has been thoroughly studied in cryptorchidism. However, INSL3... 
undescended testes | single nucleotide variation | INSL3 | children | cryptorchidism | insulin-like 3 | FACTOR-3 GENE | TESTICULAR DESCENT | POLYMORPHISM | PEPTIDE | INSL3 GENE | ENDOCRINOLOGY & METABOLISM | NO RELATIONSHIP | PEDIATRICS | ABSENCE | MICE | MUTATIONS | HORMONES
Journal Article
IEEE Journal of Biomedical and Health Informatics, ISSN 2168-2194, 05/2014, Volume 18, Issue 3, pp. 1098 - 1098
Journal Article
IEEE Journal of Biomedical and Health Informatics, ISSN 2168-2194, 2014, Volume 18, Issue 3, p. 1098
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 10/2018, Volume 31, Issue 10, pp. 1081 - 1089
Background: Aquaporin 7 (AQP7), a water/glycerol transporting protein, regulates adipocyte glycerol efflux and influences lipid and glucose homeostasis.... 
AQP7 | adipocytes | childhood obesity | LOCALIZATION | GLYCEROL CHANNEL | RAT | LIPOLYSIS | ADIPONECTIN | INSULIN-RESISTANCE | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | DIFFERENTIATION | SECRETION | ADIPOSE-TISSUE | Body Mass Index | Insulin Resistance - physiology | Adipocytes - metabolism | Humans | Adolescent | Aquaporins - metabolism | Female | Male | Pediatric Obesity - metabolism | Child
Journal Article
Journal of Emergency Medicine, ISSN 0736-4679, 10/2019, Volume 57, Issue 4, pp. 573 - 574
Journal Article
Annals of Pediatric Endocrinology and Metabolism, ISSN 2287-1012, 12/2018, Volume 23, Issue 4, pp. 204 - 209
Growth hormone transduction defect (GHTD) is characterized by severe short stature, impaired STAT3 (signal transducer and activator of transcription-3)... 
Cyclin-dependent kinase inhibitor p21 | Epidermal growth factor | Feedback signal transduction | Growth hormone | Cyclin-dependent kinases | Cell cycle | Original
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 02/2017, Volume 30, Issue 2, pp. 221 - 230
Journal Article
ISSN 1399-543X, 2016
Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene.... 
Journal Article
Journal Article
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