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Research 151–180 of 1000+
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression
- Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
- Genetics of Inherited Ichthyoses and Related Diseases
- A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
- Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
- The disrupted balance between hair follicles and sebaceous glands in<i>Hoxc13</i>‐ablated rabbits
- A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
- STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
- Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
- Siberian cats help in solving part of the mystery surrounding golden cats
- <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy
- Site of beige (<i>bg</i>) and leaden (<i>ln</i>) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (<i>W</i><sup><i>sh</i></sup>) homozygotes
- Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer
- Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
- Azathioprine‐induced severe myelosuppression accompanied by massive hair loss and painful oral ulcer in an autoimmune hepatitis patient with <i>NUDT15</i> minor variant: A case report
- Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- A Newborn With Hair Loss
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report