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Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2016, Volume 25, Issue 3, pp. 472 - 483
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 03/2014, Volume 6, Issue 3, pp. 299 - 306
The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe... 
12‐type introns | pituitary hypoplasia | RNA splicing | mRNA splicing | Pituitary hypoplasia | U12-type introns | MEDICINE, RESEARCH & EXPERIMENTAL | RECOGNITION | DEVELOPMENTAL DISORDER | U4ATAC SNRNA | COMPONENT | PATIENT | U12 SNRNA | RNA-Binding Proteins - genetics | Brain - diagnostic imaging | Membrane Glycoproteins - metabolism | Humans | Molecular Sequence Data | Ribonucleoproteins, Small Nuclear - genetics | Actin-Related Protein 2-3 Complex - genetics | Mutation, Missense | RNA, Messenger - metabolism | Actin-Related Protein 2-3 Complex - metabolism | RNA Splicing | Dwarfism, Pituitary - diagnosis | Female | Nuclear Proteins - genetics | Child | Dwarfism, Pituitary - genetics | Amino Acid Sequence | Introns | Nuclear Proteins - metabolism | Codon, Nonsense | Sequence Analysis, DNA | Membrane Glycoproteins - genetics | Radiography | Phenotype | Adolescent | Dwarfism, Pituitary - metabolism | RNA-Binding Proteins - metabolism | Ribonucleoproteins, Small Nuclear - metabolism | Somatotropin | Genetic aspects | Messenger RNA | Muscle proteins | Genes | Hypoplasia | Data analysis | Ribonucleoproteins (small nuclear) | Splicing | mRNA processing | Menopause | Families & family life | Gene expression | Patients | Girls | Dwarfism | Proteins | Actin | Pituitary | Writing | Growth hormones | Mutation | Growth hormone | Hormones pituïtàries | MRNA splicing | RNA missatger | Proteïnes | Reports
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 08/2017, Volume 102, Issue 8, pp. 2844 - 2852
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 12/2015, Volume 173, Issue 6, pp. 777 - 789
Journal Article
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 05/2017, Volume 102, Issue 5, pp. 1702 - 1711
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 04/2015, Volume 100, Issue 4, pp. 1221 - 1224
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2015, Volume 100, Issue 2, pp. 736 - 743
Journal Article
Scientific Reports, ISSN 2045-2322, 01/2016, Volume 6, Issue 1, p. 19310
Growth hormone replacement therapy (GHRT) increases exercise capacity and insulin resistance while it decreases fat mass in growth hormone-deficient patients... 
MAGNETIC-RESONANCE-SPECTROSCOPY | FREE FATTY-ACIDS | INSULIN-RESISTANCE | MULTIDISCIPLINARY SCIENCES | GH REPLACEMENT | LIVER | ADULTS | COMPARTMENTS | ACCUMULATION | HEPATIC STEATOSIS | HUMAN SKELETAL-MUSCLE | Spectroscopy | Physical fitness | Exercise | Body fat | Growth hormones | Lipids | Insulin resistance | Hormone replacement therapy | Growth hormone | Aerobics | Insulin
Journal Article