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Research 121–150 of 1000+
- A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
- Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
- 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
- Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- 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
- <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
- A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
- Pseudallescheria boydii infection associated with IgG4-related disease
- A blistering child: sudden erythema with blisters in a sick girl
- Post SARS-CoV-2 vaccination effluvium
- Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
- Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
- Research Snippets
- 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
- WNT10B (wingless-type MMTV integration site family)
- 25 years of ERβ: a personal journey
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Recent discoveries and developments of androgen receptor based therapy for prostate cancer
- A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Shifting IRES versus Cap-initiated translation during homeostatic stem cell differentiation and stress
- Transcriptomic Analysis Provides Molecular Insights into Skin Development in Dezhou Donkey Foals