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Endocrinology, ISSN 0013-7227, 09/2010, Volume 151, Issue 9, pp. 4494 - 4503
Journal Article
Archives of Disease in Childhood, ISSN 0022-2593, 01/1997, Volume 54, Issue 1, p. 19
BackgroundA constellation of neurodegenerative disorders exists (Gordon Holmes syndrome, 4H leucodystrophy, Boucher-Neuhauser syndrome) in which patients... 
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2014, Volume 124, Issue 7, pp. 2853 - 2854
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2005, Volume 102, Issue 6, pp. 2129 - 2134
Journal Article
Endocrinology, ISSN 0013-7227, 10/2017, Volume 158, Issue 10, pp. 3269 - 3280
Journal Article
New England Journal of Medicine, ISSN 0028-4793, 02/2008, Volume 358, Issue 7, pp. 709 - 715
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 06/2010, Volume 95, Issue 6, pp. 2857 - 2867
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2010, Volume 107, Issue 34, pp. 15140 - 15144
Between the genetic extremes of rare monogenic and common polygenic diseases lie diverse oligogenic disorders involving mutations in more than one locus in... 
Deficiency diseases | Sex hormones | Nervous system diseases | Disease models | Medical genetics | Genetic diseases | Genetic mutation | Kallmann syndrome | Human genetics | Hypogonadism | Rare variant | Digenic | Idiopathic hypogonadotropic hypogonadism | FGFR1 | idiopathic hypogonadotropic hypogonadism | GPR54 | MULTIDISCIPLINARY SCIENCES | CLINICAL HETEROGENEITY | MISSENSE MUTATIONS | PUBERTY | digenic | GENE | BARDET-BIEDL-SYNDROME | LINKED KALLMANN-SYNDROME | FIBROBLAST-GROWTH-FACTOR-RECEPTOR-1 | GNRH RECEPTOR | rare variant | Receptors, LHRH - genetics | Humans | Male | Gene Regulatory Networks | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Case-Control Studies | Receptors, Peptide - genetics | Genetic Variation | DNA Mutational Analysis | Female | Neuropeptides - genetics | Fibroblast Growth Factor 8 - genetics | Kallmann Syndrome - genetics | Extracellular Matrix Proteins - genetics | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Hypogonadism - genetics | Homozygote | Phenotype | Pedigree | Gastrointestinal Hormones - genetics | Heterozygote | Models, Genetic | Receptors, G-Protein-Coupled - genetics | Mutation | Receptors, Kisspeptin-1 | Gonadotropin-Releasing Hormone - deficiency | Cohort Studies | Multifactorial diseases | Genetic aspects | Hormones | Gonadotropin | Health aspects | Pathogens | Genetics | Genetic disorders | Pathogenesis | Index Medicus | Biological Sciences
Journal Article