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Research 841–870 of 1000+
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
- More about X‐linked testicular feminization of the mouse as a noninducible (i<sup>s</sup>) mutation of a regulatory locus: 5α‐androstan‐3α‐17ß‐diol as the true inducer of kidney alcohol dehydrogenase and ß‐glucuronidase
- 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
- The long and the short of it: evidence that <i>FGF5</i> is a major determinant of canine ‘hair’‐itability
- Molecular basis of hypohidrotic ectodermal dysplasia: an update
- Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
- Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
- Hair shaft structures in EDAR induced ectodermal dysplasia
- Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
- Subchronic study of sperm morphology, genotoxic and mutagenic effect of Lepidium sativum seeds aqueous extract in vivo
- Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form
- Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- The keratins and their disorders
- The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
- Clinical management of patients with<i>ASXL1</i>mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
- Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- Novel missense mutation in the EDA gene in a family affected by oligodontia
- Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- Genetic ablation of myelin protein zero-like 3 in mice increases energy expenditure, improves glycemic control, and reduces hepatic lipid synthesis
- CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
- Genetic Single Nucleotide Polymorphisms of IL-16 and its Concentration of Patients Infected with Alopecia Areata in Diyala Province, Iraq
- Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
- Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
- Genetic prediction of male pattern baldness
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency