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Research 121–150 of 1000+
- Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
- Marie-unna hereditary hypotrichosis
- When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in <i> KRT 5 </i>
- Identification of Somatic <i>KRAS</i> Mutation in a Korean Baby with Nevus Sebaceus Syndrome
- A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)
- Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
- 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
- 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
- Selective Pituitary Resistance to Thyroid Hormone: Clinical Hyperthyroidism with High TSH on Levothyroxine Administration in I-131 Ablated “Graves Disease”
- Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
- ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
- Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
- Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
- Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
- Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report
- 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
- Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
- C‐reactive protein as a novel biomarker for vitamin D deficiency in alopecia areata
- Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
- P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
- Ehlers-Danlos syndrome: From bedside to bench
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- PA05 A rare case of cardiocutaneous syndrome in a young child