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Research 91–120 of 1000+
- FOXN1 deficient nude severe combined immunodeficiency
- Trichothiodystrophy in a child with occult learning disorder
- Hypotrichosis with juvenile macular dystrophy
- PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
- <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
- A review of genotrichoses and hair pathology associated with inherited skin diseases
- Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
- Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
- Disease causing homozygous variants in the human hairless gene
- Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia
- 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
- <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Common genetic hair shaft abnormalities may be visualized by light and electron microscope
- Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
- Distancia promedio de la línea de implantación pilosa frontal y sus estructuras en una población de mujeres colombianas
- The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
- Inherited Disorders of the Hair
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
- Fibrosing Frontal Alopecia: A comprehensive study to understand its etiology
- Genetic prediction of male pattern baldness
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
- Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene