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Research 91–120 of 1000+
- P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
- Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
- Acne-Associated Syndromes
- Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
- Painful thickened skin on the soles of the feet
- Assessment of scalp hair survivin in patients with premature greying of hair
- Central Centrifugal Cicatricial Alopecia (CCCA)
- Office Diagnosis of Hair Shaft Defects
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- LOOSE ANAGEN SYNDROME AND LOOSE ANAGEN HAIR
- Congenital hypotrichosis due to short anagen
- The medusa head: Dermoscopic diagnosis of woolly hair syndrome
- Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
- Short anagen hair syndrome
- Odd-Looking Hair and Progressive Alopecia in Mother and Son
- The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
- Familial congenital generalized hypertrichosis
- P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
- The inheritance of common baldness: Two B or not two B ?
- A new type of pachyonychia congenita.
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
- Congenital Atrichia: A Case Report
- Keratin disorders: from gene to therapy