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Applied economics letters, ISSN 1350-4851, 10/2018, Volume 25, Issue 18, pp. 1266 - 1268
Journal Article
Molecular and cellular endocrinology, ISSN 0303-7207, 06/2018, Volume 468, pp. 60 - 69
Testis development | Exome | DSD | Genome mapping | Whole genome sequencing | Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Disorders of Sex Development - diagnosis | Exome - genetics | Animals | Genetic Testing | Sexual Development - genetics | Humans | High-Throughput Nucleotide Sequencing | Disorders of Sex Development - genetics | Genomics - methods | Disorders of Sex Development - therapy | Anopheles | Developmental biology | Technology | Analysis | Genes | Genomics | Genomes | Nucleotide sequencing | Nucleotides | Gene expression | Genetic screening | DNA sequencing | Index Medicus | whole genome sequencing | exome | testis development | genome mapping
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Translating genomics to the clinical diagnosis of disorders/differences of sex development
Current topics in developmental biology, ISSN 0070-2153, 2019, Volume 134, pp. 317 - 375
Next-generation sequencing | Sexual development | Optical genome mapping | Structural variants | Whole genome sequencing | Exome sequencing | Long-read sequencing | Disorders/differences of sex development | Genetic diagnosis | Karyotyping - methods | Disorders of Sex Development - diagnosis | Sex Chromosome Aberrations | Humans | Sex Chromosomes - genetics | Disorders of Sex Development - genetics | Genomics - methods | Genetic Testing - methods | Whole Exome Sequencing - methods | Index Medicus | differences of sex development | Disorders | genetic diagnosis
Journal Article
Nature medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Index Medicus
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Scientific reports, ISSN 2045-2322, 11/2016, Volume 6, Issue 1, pp. 36916 - 36916
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Pattern formation | Testosterone | Propionic acid | Central nervous system | DNA methylation | Neural stem cells | Sex differences | Gender differences | Acetylation | Sexual dimorphism | Gene expression | Ribonucleic acid--RNA | Index Medicus
Journal Article
The journal of clinical endocrinology and metabolism, ISSN 0021-972X, 12/2019, Volume 104, Issue 12, pp. 5923 - 5934
Journal Article
Genome research, ISSN 1088-9051, 04/2019, Volume 29, Issue 4, pp. 646 - 656
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Genetic Variation | Sequence Analysis, DNA - standards | DNA Methylation | Muscular Dystrophy, Facioscapulohumeral - genetics | Sequence Analysis, DNA - methods | Humans | Haplotypes | Bisulfite | Copy number | DNA methylation | Genomes | Regulatory sequences | Chromosome 4 | Gene mapping | Muscular dystrophy | Deoxyribonucleic acid--DNA | Index Medicus | Method
Journal Article
The journal of clinical endocrinology and metabolism, ISSN 0021-972X, 02/2015, Volume 100, Issue 2, pp. E333 - E344
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Exome | 46, XY Disorders of Sex Development - genetics | Phenotype | 46, XY Disorders of Sex Development - diagnosis | Humans | Male | Genetic Testing - methods | Index Medicus | Abridged Index Medicus | Advances in Genetics | JCEM Online
Journal Article
Genetics (Austin), ISSN 0016-6731, 2014, Volume 197, Issue 3, pp. 885 - 897
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | SOX9 Transcription Factor - metabolism | Breeding | Chromosomes, Mammalian - genetics | Sex Determination Processes - genetics | Mice, Inbred C57BL | Genome - genetics | Male | Mice, 129 Strain | DNA, Intergenic - genetics | Regulatory Sequences, Nucleic Acid - genetics | Founder Effect | Homozygote | Animals | Time Factors | Polymorphism, Single Nucleotide - genetics | Female | Heterozygote | Noncoding DNA | Research | Developmental biology | Genomics | Analysis | Sex determination, Genetic | Genetic research | Epigenetics | Sexes | Chromosomes | Rodents | Index Medicus | congenic | gonad | sex reversal | disorders of sex development | testis | Investigations | sex determination
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