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Research 931–960 of 1000+
- Zinc metabolism in lethal-milk mice
- Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
- Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
- Functional Characterization of<i>fer-ts</i>, a Temperature-Sensitive FERONIA Mutant Allele That Alters Root Hair Growth
- Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
- Proscar and Propecia: the Gary and Jerry show
- Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
- Impaired Notch‐MKP‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
- In vivo function of VDR in gene expression-VDR knock-out mice
- Chrousos syndrome: from molecular pathogenesis to therapeutic management
- More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
- Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Exact, time-independent estimation of clone size distributions in normal and mutated cells
- The Advances of Broad-Spectrum and Hot Anti-Coronavirus Drugs
- Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies
- Masquerading of trichotillomania in a family with monilethrix
- Genome-based analysis of the genetic pattern of black sheep in Qira sheep
- Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
- A young male with kidney damage from genetic mitochondrial disease: case report and literature review
- Translational perspectives in HTRA1-associated disorders: biomarkers, gene therapy, and future directions
- Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1 ‐mediated P53 ubiquitination
- Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
- Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
- Uncombable hair in a case of Zellweger syndrome – A new association
- 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis