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Research 211–240 of 1000+
- PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
- Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
- Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
- Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
- Congenital and Hereditary Skin Diseases
- Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
- Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
- Emergence of hereditary hyperplastic gingivitis in Newfoundland and Labrador, Canada: an exploration into the molecular aetiology at both the gene and genome levels
- Management of pregnancy in a carrier of the Donohue mutation
- A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
- Lanceolate hair-J (<i>lah<sup>J</sup> </i> ): A mouse model for human hair disorders
- Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
- A review of genotrichoses and hair pathology associated with inherited skin diseases
- [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns].
- Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
- [Netherton's syndrome in two sisters].
- 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
- Alopecia totalis in an infant
- 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