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    Research 151–180 of 1000+

    1. <i>Hoxc13</i> mutant mice lack external hair Genes & Development · 1998 · 245 citations
    2. Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation The Journal of Cell Biology · 2001 · 195 citations
    3. GABRA2 Alleles Moderate the Subjective Effects of Alcohol, Which are Attenuated by Finasteride Neuropsychopharmacology · 2005 · 134 citations
    4. Genetic Ablation of the <i>CDP/Cux</i> Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility Molecular and cellular biology · 2002 · 97 citations
    5. Planar Cell Polarity Cadherin Celsr1 Regulates Skin Hair Patterning in the Mouse Journal of Investigative Dermatology · 2009 · 92 citations
    6. Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency The Journal of Clinical Endocrinology and Metabolism · 2008 · 81 citations
    7. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    8. Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression Veterinary Pathology · 1997 · 69 citations
    9. Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function Endocrinology · 2004 · 67 citations
    10. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    11. A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification 2002 · 66 citations
    12. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    13. A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005 · 33 citations
    14. A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis Mammalian genome · 2009 · 21 citations
    15. Histopathology of Hypotrichosis with Juvenile Macular Dystrophy The American Journal of Dermatopathology · 2004 · 19 citations
    16. The disrupted balance between hair follicles and sebaceous glands in<i>Hoxc13</i>‐ablated rabbits ˜The œFASEB journal · 2018 · 18 citations
    17. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    18. Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations PloS one · 2014 · 15 citations
    19. A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient Journal of Dermatological Science · 2009 · 13 citations
    20. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin Genetics in medicine · 2018 · 10 citations
    21. STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone Cell calcium · 2019 · 9 citations
    22. Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan Genes · 2016 · 9 citations
    23. Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Hormone Research in Paediatrics · 2016 · 8 citations
    24. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    25. <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy Veterinary medicine and science · 2019 · 7 citations
    26. Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer Medical Oncology · 2013 · 6 citations
    27. Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes 2017 · 4 citations
    28. 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 Clinical Case Reports · 2021 · 3 citations
    29. Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review Frontiers in Pharmacology · 2023 · 1 citations
    30. Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family Frontiers in genetics · 2021 · 1 citations