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Research 481–510 of 1000+
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
- Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
- Clinical Snippets
- Clinical Snippets
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
- Coexistence of Woolly Hair and Monilethrix: A Cases Study
- Common genetic hair shaft abnormalities may be visualized by light and electron microscope
- Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
- Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
- Alopecia in a 19-Month-Old Boy
- The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
- Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
- Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- Fibrosing Frontal Alopecia: A comprehensive study to understand its etiology
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- Monilethrix: A rare hereditary condition
- P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- Monilethrix in three generations
- Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.