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Research 61–90 of 1000+
- Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
- Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
- Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
- 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.
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
- Granulomatous skin involvement in a patient with an unusual <i>NOD2</i> mutation
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Odd-Looking Hair and Progressive Alopecia in Mother and Son
- Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
- Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
- In vivo function of VDR in gene expression-VDR knock-out mice
- Biotinidase deficiency characterized by skin and hair findings
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis