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Research 601–630 of 1000+
- A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
- Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- 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
- The Shaven (Sha) Mutation, Chromosome 15
- Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations
- Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
- Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
- Discreet monilethrix: De novo mutation on the example of polish families
- NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
- Granulomatous skin involvement in a patient with an unusual <i>NOD2</i> mutation
- Lentiginous melanoma. A clinically malignant entity that histopathologically seems benign. Case study harbouring BRAF V 600R mutation
- The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
- Impact of mutations in PRLR for hair weight, circulating prolactin concentrations, feed intake, and growth of beef cattle in a hot and humid climate
- PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation
- Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
- Somatic mutations distinguish melanocyte subpopulations in human skin
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
- 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