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Research 31–60 of 868
- Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i>
- SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
- Identification of novel mutation in the<i>HR</i>gene responsible for atrichia with papular lesions in a Pakistani family
- Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
- Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
- A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
- Cantú Syndrome Is Caused by Mutations in ABCC9
- <i>De novo</i> mutations in monilethrix
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
- The long and the short of it: evidence that <i>FGF5</i> is a major determinant of canine ‘hair’‐itability
- 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.
- Association analysis of polymorphisms in six keratin genes with wool traits in sheep
- The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis