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Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2011, Volume 108, Issue 4, pp. 1597 - 1602
Approximately 1 of every 250 newborns has some abnormality of genital and/or gonadal development. However, a specific molecular cause is identified in only 20%... 
Proteins | Transcription factors | Genetic vectors | Genes | DNA | Testicular development | Testes | Genetic mutation | Zinc | Congenital heart defects | VENTRAL MORPHOGENESIS | PROTEIN | SEXUAL-DIFFERENTIATION | MULTIDISCIPLINARY SCIENCES | GENE-EXPRESSION | STEROIDOGENIC FACTOR-1 SF-1 | TESTIS DEVELOPMENT | CONGENITAL HEART-DEFECTS | TRANSCRIPTION FACTOR GATA-4 | TUBE FORMATION | GONADAL DEVELOPMENT | Testis - metabolism | Follow-Up Studies | Humans | Child, Preschool | Molecular Sequence Data | Family Health | Male | Green Fluorescent Proteins - genetics | Disorders of Sex Development - metabolism | DNA-Binding Proteins - metabolism | Cell Nucleus - metabolism | DNA Mutational Analysis | HEK293 Cells | Disorders of Sex Development - complications | Female | Steroidogenic Factor 1 - metabolism | Child | Infant, Newborn | Amino Acid Sequence | Green Fluorescent Proteins - metabolism | Testis - abnormalities | GATA4 Transcription Factor - metabolism | GATA4 Transcription Factor - genetics | Disorders of Sex Development - genetics | Sequence Homology, Amino Acid | Transcription Factors - metabolism | Heart Defects, Congenital - complications | Pedigree | Adolescent | Protein Binding | Mutation | Testis | Human beings | Physiological aspects | Genetic aspects | Research | Man | Properties | Mutation (Biology) | Human subjects | Genealogy | Cardiovascular disease | Biochemistry | Hormones | Urogenital system | Binding sites | Index Medicus | Biological Sciences
Journal Article
Nature Genetics, ISSN 1061-4036, 12/2014, Volume 46, Issue 12, pp. 1283 - 1292
Journal Article
Expert review of endocrinology & metabolism, 09/2016, Volume 11, Issue 5, p. 433
Next Generation Sequencing is revolutionising our understanding of variation in the human genome and as costs reduce the sequencing of patient's genomes is... 
Journal Article
Nature Structural and Molecular Biology, ISSN 1545-9993, 06/2015, Volume 22, Issue 6, pp. 442 - 451
Journal Article
Sexual Development, ISSN 1661-5425, 12/2016, Volume 10, Issue 5-6, pp. 313 - 325
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 05/2018, Volume 115, Issue 21, pp. 5474 - 5479
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 10, pp. e24117 - e24117
Journal Article