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Research 31–60 of 1000+
- PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation
- 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
- Molecular genetics of androgen insensitivity
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix
- 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
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
- Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
- Studying the genetic predisposing factors in the pathogenesis of acne vulgaris
- A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
- Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
- Genetic disorders of keratin: are scarring alopecias a sub-set?
- A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
- Filaggrin mutations as an archetype for understanding the pathophysiology of atopic dermatitis
- Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
- Management of pregnancy in a carrier of the Donohue mutation
- A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
- FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis