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Research 631–660 of 1000+
- Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
- 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
- A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
- Zebrafish Model of Hereditary Pigmentary Disorders
- The color of human hair
- Berardinelli–Seip syndrome
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
- EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
- This month in JAAD Case Reports: October 2023—Central centrifugal cicatricial alopecia in Black men
- Congenital Adrenal Hyperplasia
- A Neonate with Blisters
- Clinical Snippets
- The color of human hair
- A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome
- Clinical cases of Darier-White follicular dyskeratosis
- Molecular landscape of lung cancer: insights into therapeutic targets and clinical outcomes
- Genomics
- Primary Generalized Glucocorticoid Resistance and Hypersensitivity
- Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes
- Animal models of human skin disease
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- Receptor tyrosine kinase Kit action in skin melanocytes: is it exclusively cell autonomous?
- Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
- Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
- SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- Uncombable hair in a case of Zellweger syndrome – A new association
- SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS
- KRT16 wt Allele