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Research 121–150 of 1000+
- Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- A missense mutation in Lama3 causes androgen alopecia
- 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
- Hair Today
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
- A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
- The Genetics of Human Skin Disease
- Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
- Novel small‐insertion mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis
- Woolly Antics between the Sheaths
- An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
- What causes hidradenitis suppurativa ?—15 years after
- Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
- <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients
- Studying the genetic predisposing factors in the pathogenesis of acne vulgaris
- A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis