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Research 30 of 814
- Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
- FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
- Prenatal diagnosis of a foetus with partial monosomy 4p and partial trisomy 13q
- Prenatal serological diagnosis of intrauterine cytomegalovirus infection.
- Prenatal Screening for Bathing-suit Ichthyosis After Diagnosis in an Older Sibling
- Polycystic ovary syndrome: etiology, pathogenesis and diagnosis
- PCOS: update and diagnostic approach
- Inherited ichthyosis: Syndromic forms
- Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
- Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families
- Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations
- Management of pregnancy in a carrier of the Donohue mutation
- Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
- Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures
- Síndrome de ovario poliquístico: la distancia anogenital como marcador del entorno androgénico prenatal y revisión y comparación de los criterios diagnósticos
- In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hyperplasia
- Biochemical examination of fetal skin biopsy specimens obtained by fetoscopy: Use of the method for analysis of keratins and filaggrin
- Presence of polycystic ovary syndrome is associated with longer anogenital distance in adult Mediterranean women
- Nonclassic 21-hydroxylase deficiency
- Physiological dermatological changes during pregnancy: literature review
- A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
- An unusual presentation of X-linked adrenoleukodystrophy
- “Case Report : Early Congenital Syphilis”
- Thallium - poisoner’s poison: An overview and review of current knowledge on the toxicological effects and mechanisms
- Pallister-Killian Syndrome
- Genetic hair and nail disorders
- Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
- Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm