Search
for
Sort by
Research 91–120 of 1000+
- Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
- Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hyperplasia
- Nonclassic congenital adrenal hyperplasia
- Inherited Acrodermatitis Enteropathica
- Atrichia with Papular Lesions: Dermoscopy to the Rescue
- Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
- Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function
- Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function
- <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients
- Congenital adrenal hyperplasia
- Successful induction of oral tolerance in Netherton syndrome
- Hereditary vitamin D rickets: a case series in a family
- Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
- Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
- Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
- Management of pregnancy in a carrier of the Donohue mutation
- Congenital and Hereditary Skin Diseases
- A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
- Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
- Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
- <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy
- A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family