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Research 91–120 of 1000+
- Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
- Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- Congenital atrichia with papular lesions
- Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
- Congenital Atrichia: A Case Report
- A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
- More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
- Biology and Genetics of Hair
- Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
- Genetics of Inherited Ichthyoses and Related Diseases
- 4 Vitamin D resistance
- Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
- Congenital atrichia with papular lesions
- Monilethrix
- A Newborn With Hair Loss
- Ugreelig hår
- When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
- A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
- Cutaneous Ultrastructural Features of the Flaky Skin (<i>fsn</i>) Mouse Mutation
- <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients
- Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
- A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
- Management of pregnancy in a carrier of the Donohue mutation
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- 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