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- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Update on the Genetics of Androgenetic Alopecia, Female Pattern Hair Loss, and Alopecia Areata: Implications for Molecular Diagnostic Testing
- Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
- Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
- Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
- Two females with hair loss
- Disorders of Sex Development
- XX/XY chimerism in tortoiseshell tomcats – a new case and review of the literature
- Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
- Recent advances in understanding and managing male infertility
- Clinical Impact of Molecular Diagnostics in Endocrinology
- Translational perspectives in HTRA1-associated disorders: biomarkers, gene therapy, and future directions
- Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
- Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Chrousos syndrome: from molecular pathogenesis to therapeutic management
- Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach
- Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
- Skin wound healing in humans and mice: Challenges in translational research
- A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- Non-nutritional rickets: Approach, precision medicine, and outcomes
- Tumor Necrosis Factor-Alpha and Polycystic Ovarian Syndrome: A Clinical, Biochemical, and Molecular Genetic Study
- Beyond Coincidence in Neurofibromatosis Type 1: Becker Nevus Adjacent to Plexiform Neurofibroma with Brachial Plexus Involvement and Integrated Mechanistic Illustration
- Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome