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2015, ISBN 1621821374, xix, 388 p., 12 unnumbered p.s of plates
.... It recounts the now century long effort of small groups of physicians and scientists to take on some of these genetic diseases... 
Genetic disorders in children | MEDICAL / Diseases | Medical genetics | SCIENCE / Life Sciences / Genetics & Genomics | Genetic Diseases, Inborn | MEDICAL / Pediatrics | Rare Diseases | Research | Child
Book
Nature (London), ISSN 1476-4687, 2017, Volume 547, Issue 7662, pp. 173 - 178
Journal Article
Journal Article
Genetics (Austin), ISSN 1943-2631, 2017, Volume 207, Issue 1, pp. 9 - 27
Journal Article
International journal of dermatology, ISSN 0011-9059, 12/2017, Volume 56, Issue 12, pp. 1406 - 1413
Background Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth... 
KINDLER-SYNDROME | KINDLIN-1 | PROTEIN | MUTATION | VII COLLAGEN | SPECTRUM | DYSTROPHIC EPIDERMOLYSIS-BULLOSA | IDENTIFICATION | DERMATOLOGY | Rare Diseases - genetics | 1-Acylglycerol-3-Phosphate O-Acyltransferase - genetics | Endonucleases - genetics | Lipid Metabolism, Inborn Errors - genetics | Sjogren-Larsson Syndrome - genetics | Xeroderma Pigmentosum - genetics | Humans | Male | Mitochondrial Proteins - genetics | Ichthyosis Vulgaris - genetics | INDEL Mutation | Skin Diseases, Genetic - genetics | Exome | Epidermolysis Bullosa - genetics | DNA Mutational Analysis | Intermediate Filament Proteins - genetics | Female | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Periodontal Diseases - genetics | Protoporphyrinogen Oxidase - genetics | Porphyria, Variegate - genetics | Photosensitivity Disorders - genetics | Epidermolysis Bullosa Simplex - genetics | Flavoproteins - genetics | Membrane Proteins - genetics | Collagen Type VII - genetics | Aldehyde Oxidoreductases - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Blister - genetics | Keratin-14 - genetics | Homozygote | Phenotype | Ichthyosis, Lamellar - genetics | Pedigree | Lipoxygenase - genetics | Consanguinity | Epidermolysis Bullosa Dystrophica - genetics | Muscular Diseases - genetics | Ichthyosiform Erythroderma, Congenital - genetics | Genetic research | Skin | Nucleotide sequencing | Genes | DNA sequencing | Sebaceous glands | Nails | Glands | Teeth | Disorders | Homozygosity | Tissues | Follicles | Gene sequencing | Genodermatosis | Gene mapping
Journal Article
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 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 each affected individual... 
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 | CONTRIBUTE | idiopathic hypogonadotropic hypogonadism | MULTIDISCIPLINARY SCIENCES | CLINICAL HETEROGENEITY | digenic | PROKINETICIN-2 | GENE | LINKED KALLMANN-SYNDROME | MUTATIONS | FIBROBLAST-GROWTH-FACTOR-RECEPTOR-1 | GNRH RECEPTOR | rare variant | DELETIONS | 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 | Biological Sciences
Journal Article
PLoS genetics, ISSN 1553-7390, 11/2011, Volume 7, Issue 11, p. e1002334
Journal Article