Search
for
Sort by
Research 691–720 of 1000+
- Monilethrix: a typical case report with microscopic and dermatoscopic findings
- Genetic disorders of keratin: are scarring alopecias a sub-set?
- New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
- Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
- Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
- A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
- Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
- MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
- CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
- 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
- Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations
- Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
- 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- 012 A Case Report of Central Centrifugal Cicatricial Alopecia in Two Generations
- A rare hair loss in children: Monilethrix
- 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
- Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
- A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
- Causes and Management of Hypertrichosis
- FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation
- Generalized atrophic benign epidermolysis bullosa.
- Central centrifugal cicatricial alopecia: challenges and solutions
- A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
- Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
- Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
- Managing Cutaneous Manifestations of Hyperandrogenic Disorders
- Keratins: the hair shaft's backbone revealed