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BMJ : British Medical Journal, ISSN 1756-1833, 12/2012, Volume 345, Issue 7889, pp. e7913 - e7913
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 725 - 743
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2007, Volume 357, Issue 9, pp. 863 - 873
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 06/2016, Volume 174, Issue 6, pp. R267 - R274
Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of puberty and infertility. Traditionally, it has been considered a life-long condition... 
DELAYED PUBERTY | GONADOTROPIN-RELEASING-HORMONE | ENDOCRINOLOGY & METABOLISM | FERTILE EUNUCH | LINKED KALLMANN-SYNDROME | RECEPTOR GENE | HOMOZYGOUS R262Q MUTATION | CANDIDATE GENE | INDUCTION | DEFICIENCY | PULSATILE
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
Journal of Clinical Investigation, ISSN 0021-9738, 08/2008, Volume 118, Issue 8, pp. 2822 - 2831
Journal Article
Diabetes Care, ISSN 0149-5992, 07/2005, Volume 28, Issue 7, pp. 1636 - 1642
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2017, Volume 92, Issue 2, pp. 213 - 216
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2011, Volume 364, Issue 3, pp. 215 - 225
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 02/2007, Volume 117, Issue 2, pp. 457 - 463
Journal Article