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    1. Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers Cancers · 2022 · 10 citations
    2. Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed Schweizer Archiv für Tierheilkunde · 2020 · 2 citations
    3. Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene Journal of The American Academy of Dermatology · 2000 · 9 citations
    4. Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene Journal of The American Academy of Dermatology · 2000 · 2 citations
    5. Management of pregnancy in a carrier of the Donohue mutation Prenatal Diagnosis · 2009
    6. Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status European journal of endocrinology · 1999 · 19 citations
    7. FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis Gene · 2017 · 17 citations
    8. Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families ˜The œjournal of gene medicine · 2020 · 3 citations
    9. Liposome-Based Carriers for CRISPR Genome Editing International Journal of Molecular Sciences · 2023
    10. Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome Prenatal Diagnosis · 2004 · 25 citations
    11. Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix Jornal Brasileiro de Patologia e Medicina Laboratorial · 2018 · 1 citations
    12. Nonclassical Congenital Adrenal Hyperplasia and Pregnancy Case reports in endocrinology · 2015 · 1 citations
    13. People’s experiences of eyebrow transplantation: A qualitative study Journal of Cutaneous and Aesthetic Surgery · 2026
    14. Case Study: Hereditary Cancer Genetic Testing in Unaffected Patients May Allow for Early Intervention and Aggressive Management Journal of Minimally Invasive Gynecology · 2014
    15. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    16. Analyzing the role of ACE2, AR, MX1 and TMPRSS2 genetic markers for COVID-19 severity Human Genomics · 2023 · 9 citations
    17. Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica 2010 · 16 citations
    18. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    19. 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH Journal of the Endocrine Society · 2024
    20. 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH Journal of the Endocrine Society · 2024
    21. Discovery of genes and proteins possibly regulating mean wool fibre diameter using cDNA microarray and proteomic approaches Scientific reports · 2020 · 6 citations
    22. Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease bioRxiv (Cold Spring Harbor Laboratory) · 2020
    23. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    24. Androgen Receptor Polymorphism-Dependent Variation in Prostate-Specific Antigen Concentrations of European Men Cancer Epidemiology, Biomarkers & Prevention · 2014 · 9 citations
    25. Clinical Impact of Molecular Diagnostics in Endocrinology Hormone Research in Paediatrics · 2002 · 2 citations
    26. Autosomal recessive hereditary hypotrichosis simplex: A case report JAAD Case Reports · 2024
    27. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions Human Genetics · 2019 · 10 citations
    28. Delivery of Tissue-Targeted Scalpels: Opportunities and Challenges for <i>In Vivo</i> CRISPR/Cas-Based Genome Editing ACS Nano · 2020 · 60 citations
    29. Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease Translational Psychiatry · 2021 · 12 citations
    30. Lactate dehydrogenase activity drives hair follicle stem cell activation Nature cell biology · 2017 · 202 citations