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Research 601–630 of 1000+
- Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation
- Buschke-Ollendorff syndrome
- Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
- Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
- Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
- Birt–Hogg–Dubé syndrome
- Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
- Clouston’s Syndrome-A Case Report
- Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
- Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
- <i>De novo</i> mutations in monilethrix
- <i>TRPS1</i> mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
- Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
- P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
- A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
- A newborn presenting with congenital blistering
- Monilethrix, a rare inherited hair shaft disorder in siblings
- Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
- Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
- 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
- A 40-Year-Old Woman With Facial Papules and Flank Pain
- ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
- Loose anagen syndrome in one identical twin girl.
- Loose Anagen Syndrome
- Hair Anomalies in a 6-Year-Old Girl
- Hair dysplasias
- The Case | Bilateral kidney tumors and lung cysts
- Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
- Targeting integrin pathways: mechanisms and advances in therapy
- Corneodesmosin: Structure, Function and Involvement in Pathophysiology