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- Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
- Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
- 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
- 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
- Werewolf, there wolf: variants in <i>Hairless</i> associated with hypotrichia and roaning in the lykoi cat breed
- Woolly hair generalizado: caso clínico e revisão da literatura
- Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
- Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
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- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
- 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
- Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- 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
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
- Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
- <i>WNT10A</i> , dermatology and dentistry
- Amino acid–derived defense metabolites from plants: A potential source to facilitate novel antimicrobial development
- Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
- The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion