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Research 91–120 of 1000+
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
- Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
- Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
- Keratin 71 Mutations: From Water Dogs to Woolly Hair
- Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
- Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
- Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
- ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
- Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
- Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
- Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i>
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
- The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
- Disorganization of Transcriptional Regulation and Alteration of Keratin Family Gene Expression in Hairy Ear Mice
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Informàtica i Dret penal: Els delictes relatius a la informàtica
- Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach
- Skin diseases associated with atopic dermatitis
- 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
- Hair shaft structures in EDAR induced ectodermal dysplasia
- Odd-Looking Hair and Progressive Alopecia in Mother and Son