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Research 121–150 of 1000+
- Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
- Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
- Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz<sup>ica</sup>) mice points to <i>fuzzy</i> as a key element of hair cycle control
- 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
- IL-17 axis is a significant driver of skin inflammation in Card14 mutant pityriasis rubra pilaris model mice
- <i>Hoxc13</i> mutant mice lack external hair
- STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
- Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
- Persistent Hypoglycemia and Macrosomia in a Newborn
- A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- Semidominant Inheritance in Epidermolytic Ichthyosis
- An essential role for <i>Rxrα</i> in the development of Th2 responses
- Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
- Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- THE EXPRESSION AND INTERACTION OF HEREDITARY FACTORS PRODUCING HYPOTRICHOSIS IN THE MOUSE: HISTOLOGY AND EXPERIMENTAL RESULTS
- Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
- Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
- 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
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
- 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