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Research 391–420 of 1000+
- Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
- Odd-Looking Hair and Progressive Alopecia in Mother and Son
- Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
- The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
- More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
- When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
- Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
- Atrichia With Papular Lesions
- A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
- Nonclassic 21-hydroxylase deficiency
- An Update of Congenital Adrenal Hyperplasia
- Ocular aspects in biotinidase deficiency Clinical and genetic original studies
- An unusual presentation of vitamin D dependent rickets type 2 with low 25 (OH) D3 levels and alopecia: a case report of two siblings
- Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
- 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
- Netherton Syndrome Associated with Growth Hormone Deficiency
- Trichothiodystrophy: Current Concepts
- GAPO syndrome – Report of a rare case and review
- Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
- Congenital erythropoietic porphyria five years observation with standard treatment: a case report
- A Rare Case of Biotinidase Deficiancy
- Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report
- Trichothiodystrophy -A Case Report-
- FOXN1 deficient nude severe combined immunodeficiency
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
- Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
- Atrichia with papular lesions
- Vitamin D Dependent Rickets Type II with Alopecia