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Acta Neuropathologica, ISSN 0001-6322, 12/2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
Andrologiâ i Genitalʹnaâ Hirurgiâ, ISSN 2070-9781, 02/2017, Volume 17, Issue 4, pp. 59 - 67
Маterials and methods. The study hereunder was an open multicenter surveillance non-intervention study at men with testosterone deficiency, apllying daily 1 %... 
hypogenitalism | life quality testosterone therapy | sexual function
Journal Article
Folia Neuropathologica, ISSN 1641-4640, 2016, Volume 54, Issue 3, pp. 273 - 281
The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by... 
Warburg syndrome | Whole-exome sequencing | RAB3GAP1 | OF-FUNCTION MUTATIONS | HYPOGENITALISM | PATHOLOGY | OPTIC ATROPHY | NEUROSCIENCES | HEART | RETARDATION | CONGENITAL CATARACT | RAB18 | MICROPHTHALMIA | whole-exome sequencing | GENOME-WIDE ASSOCIATION
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2015, Volume 10, Issue 11, pp. e0142831 - e0142831
MAMLD1 is thought to cause disordered sex development in 46, XY patients. But its role is controversial because some MAMLD1 variants are also detected in... 
POLYMORPHISMS | XQ28 | MULTIDISCIPLINARY SCIENCES | SEX DEVELOPMENT | DISORDER | CXORF6 | MUTATIONS | MALE HYPOGENITALISM | HYPOSPADIAS | MYOTUBULAR MYOPATHY | MTM1 | 46, XY Disorders of Sex Development - genetics | Testis - metabolism | Species Specificity | Humans | Middle Aged | Child, Preschool | Infant | Male | Adrenal Glands - embryology | Genetic Variation | Testis - embryology | HEK293 Cells | Adult | Female | Nuclear Proteins - genetics | Infant, Newborn | Steroids - chemistry | Cell Line | Promoter Regions, Genetic | Gene Expression Regulation | Genotype | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Phenotype | Animals | Adrenal Glands - metabolism | Cell Line, Tumor | Heterozygote | Steroid 17-alpha-Hydroxylase - genetics | Mice | Polymorphism, Single Nucleotide | Mutation | Cohort Studies | Care and treatment | Patient outcomes | Cytochrome P-450 | Human chromosome abnormalities | Cryptorchism | Development and progression | Research | Risk factors | Pediatrics | Phenotypes | Genitalia | Biomedical research | Enzyme activity | Transcription | Genomics | Sex | Single-nucleotide polymorphism | Metabolism | Gene expression | Patients | Western blotting | Studies | Genotype & phenotype | Testosterone | Hospitals | Enzymatic activity | Genetics | Variation | Testes | Endocrinology | Index Medicus
Journal Article
Journal Article
Turkish Journal of Pediatrics, ISSN 0041-4301, 2009, Volume 51, Issue 3, pp. 294 - 297
49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations,... 
Micropenis | 48,XXXY | Gonosomal aneuploidy | 49,XXXXY | Hip dysplasia | Hypogenitalism | POLYSOMY | KLINEFELTER-SYNDROME | PARENTAL ORIGIN | PEDIATRICS | micropenis | hip dysplasia | hypogenitalism | gonosomal aneuploidy | Rare Diseases - genetics | Klinefelter Syndrome - genetics | Humans | Karyotyping | Adolescent | Rare Diseases - diagnosis | Klinefelter Syndrome - diagnosis | Aneuploidy | Infant | Male | Index Medicus
Journal Article