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Research 31–60 of 1000+
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- Multiple facial atrophic scars in childhood
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by<i>DSP</i>mutations
- Hemoglobinopathy and Systemic Lupus: A Rare Association
- Ugreelig hår
- Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- Colon Cancer Prevention and Its Transcriptomics‐Based Identification of Molecular Mechanisms by Dietary Intake of Soy Food
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
- Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
- 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
- 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
- Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
- 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
- Sex hormones and related compounds, including hormonal contraceptives
- Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
- WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
- Morpho-Regulation of Ectodermal Organs
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- Brown Adipose Tissue and Novel Management Strategies for Polycystic Ovary Syndrome Therapy
- Molecular determinants for the chemical activation of the warmth-sensitive TRPV3 channel by the natural monoterpenoid carvacrol
- Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
- Visualising Androgen Receptor Activity in Male and Female Mice
- The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
- Differential activity of 2-methylene-19-nor vitamin D analogs on growth factor gene expression in rhino mouse skin and comparison to all-trans retinoic acid