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Research 691–720 of 1000+
- An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
- Novel small‐insertion mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis
- NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
- Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
- Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report
- 152 Alopecia patterns in patients with autosomal receesive congenital ichthyosis
- Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
- Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the <i>LIPH</i> gene at c.742C > A and c.614A > G: The first Japanese case
- Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations
- Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
- Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
- 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
- Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
- A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
- Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
- Novel D323G mutation of <i>DSG4</i> gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
- Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis
- Transplantation of autologous single hair units heals chronic wounds in autosomal recessive dystrophic epidermolysis bullosa: A proof-of-concept study
- Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
- 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
- Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes
- 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
- A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
- Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
- Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.