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Research 30 of 815
- FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
- Management of pregnancy in a carrier of the Donohue mutation
- Unknown safety profile of ingredients in hair supplements: A call to action for improved patient safety
- Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
- Congenital Adrenal Hyperplasia
- An unusual presentation of X-linked adrenoleukodystrophy
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- Zfp462 deficiency causes anxiety‐like behaviors with excessive self‐grooming in mice
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Is Prenatal Sex Hormone Balance a Risk Factor for the Development of Hidradenitis Suppurativa
- Síndrome de ovario poliquístico: la distancia anogenital como marcador del entorno androgénico prenatal y revisión y comparación de los criterios diagnósticos
- Prenatal Exposure to Delta-9-tetrahydrocannabinol (THC) Alters the Expression of miR-122-5p and Its Target Igf1r in the Adult Rat Ovary
- Effects of the prenatal and postnatal nurturing environment on the phenotype and gut microbiota of mice with polycystic ovary syndrome induced by prenatal androgen exposure: a cross-fostering study
- DERMATOLOGICAL AND SYSTEMIC REACTIONS TO HAIR DYES: CURRENT EVIDENCE AND MANAGEMENT
- The genetics of autism and steroid-related traits in prenatal and postnatal life
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
- Biotin beware: Perils of biotin supplementation: Response to: “The epidemiology, impact, and diagnosis of micronutrient nutritional dermatoses. Part 2: B-complex vitamins”
- Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
- Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
- Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- A Critical Review on Obstetric Follow-up of Women Affected by Systemic Lupus Erythematosus
- Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures
- Discovery of Natural Steroid 5 Alpha-Reductase Inhibitors
- Early lead exposure and pubertal development in a Mexico City population
- Maternal androgen excess significantly impairs sexual behavior in male and female mouse offspring: Perspective for a biological origin of sexual dysfunction in PCOS
- Inherited ichthyoses/generalized Mendelian disorders of cornification
- “Case Report : Early Congenital Syphilis”