• 46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes
• A Bivalent Omicron-BA.4/BA.5-Adapted BNT162b2 Booster in ≥12-Year-Olds
• A Case of de la Chapelle Syndrome
• A Case Reported With 46, XX Testicular Disorders Of Sexual Development And Its Possible Association With Dysembryoplastic Neuroepithelial Tumour
• A Homozygous Missense Variant in <em>HSD17B4</em> Identified in Two Different Families
• A multi-center analysis of individuals with a 47,XXY/46,XX karyotype
• A phase IV study to evaluate the safety of fruquintinib in Chinese patients in real-world clinical practice
• A Rare Differences of Sex Development: Male Sex Reversal Syndrome (NonSyndromic 46, XX with Negative Sex-Determining Region of Y Chromosome Gene)
• Ambiguous Genitalia in the Newborn
• AMH and other markers of ovarian function in patients with Turner syndrome - a single center experience of transition from pediatric to gynecological follow up
• Analysis of perrault syndrome caused by pathogenic variants in <em>LARS2</em> and <em>HARS2</em> genes
• Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes
• Application of fluorescence in situ hybridization combined with chromosomal karyotyping analysis in children with disorders of sex development due to sex chromosome abnormalities
• Clinical and genetic characteristics of disorders of sex development in Sudanese patients
• Current and future perspectives on clinical management of classic 21-hydroxylase deficiency
• Detection of chromosomal aneuploidy in ancient genomes
• Effects of Multidisciplinary Rehabilitation Enhanced with Neuropsychological Treatment on Post-Acute SARS-CoV-2 Cognitive Impairment (Brain Fog): An Observational Study
• Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families
• Expanding the reproductive organ phenotype of CHD7-spectrum disorder
• Exploring uncharted territory: A case report on de la Chapelle syndrome presenting as male subfertility
• Generation of functional oocytes from male mice in vitro
• Genetic analysis of a Chinese pedigree affected with overgrowth syndrome due to a small supernumerary marker chromosome
• Genetic and clinical characteristics of 46,XX testicular disorders of sex development
• Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series
• Live birth after single euploid frozen embryo transfer in a 39-year-old woman with high-grade mosaic Turner syndrome
• Long-term outcomes in non-CAH 46,XX DSD
• Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues
• Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome
• Magnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Kuster-Hauser syndrome
• Male refractory hypospadias with sexual reversal: a case report
• Mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy 21 and postnatal decrease of the trisomy 21 cell line
• Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses
• Serum LH/FSH ratios in 87 infants with differences of sex development
• Sex Reversal Syndrome (SRS): A Case of SRY-Positive 46,XX Testicular Disorder
• Sexual Dysfunction in Postural Orthostatic Tachycardia Syndrome (POTS): A Cross-Sectional, Case-Control Study
• Splicing factor SRSF1 is essential for homing of precursor spermatogonial stem cells in mice
• Syndrome Of 46, XX Male With Sex-Determining Region Of Y (SRY) Chromosome Missing, Bilateral Gynecomastia And Complete Virilization: About A Case
• Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development
• The First Case Report of 47,XXY/46,XX/46,XY Mosaic Klinefelter Syndrome Patient With Mixed Connective Tissue Disorder
• The incidence of retinopathy of prematurity in neonates in Germany in 2019; a nationwide epidemiological cohort study
• TurnerFertility trial: fertility preservation in young girls with Turner syndrome by freezing ovarian cortex tissue-a prospective intervention study
• Ventral-Onlay Buccal Mucosal Graft Urethroplasty of a Perineal Fistula in a 26-Year-Old Patient With 46 XX Male Syndrome: A Case Report
• XX Male: Early Detection With Prenatal Testing