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Research 421–450 of 1000+
- Application of Platelet-Rich Gel in Repairing Scalp Defects Combined with Skull Exposure: A Case Series Analysis
- Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
- Heterozygous deletion of the <i>NSDHL</i> gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
- Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
- Heterozygous <i>KRT32</i> variant is responsible for autosomal dominant loose anagen hair syndrome
- Heterozygous <i>COL5A1</i> deletion in a cat with classical Ehlers–Danlos syndrome
- Compound Heterozygous Mutations in <i>Forkhead Box N1</i> (<i>FOXN1</i>) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
- A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
- Novel compound heterozygous mutations in the<i>desmoplakin</i>gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
- Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
- A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
- Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
- Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
- Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
- SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
- Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
- A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
- Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
- P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
- A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome
- Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the <i>LIPH</i> gene at c.742C > A and c.614A > G: The first Japanese case
- L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
- Decision‐Making Regarding the Administration of Live Vaccines to Patients With a <i>FOXN1</i> Heterozygous Missense Variant
- Growth of the Mouse Coat VII. Hair Cycles and Sebaceous Glands in Homozygous and Heterozygous Naked Mice
- A Case Series and Literature Review of Telogen Effluvium and Alopecia Universalis after the Administration of a Heterologous COVID-19 Vaccine Scheme