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    Research 901–930 of 1000+

    1. Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling 2021
    2. Clinical management of patients with<i>ASXL1</i>mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance American journal of medical genetics. Part A · 2015 · 56 citations
    3. Therapeutics for COVID-19 and post COVID-19 complications: An update Current Research in Pharmacology and Drug Discovery · 2022 · 52 citations
    4. Zinc metabolism in lethal-milk mice Journal of Heredity · 1984 · 50 citations
    5. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    6. Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred) Movement Disorders · 2011 · 31 citations
    7. Outcomes in Clinically Relevant Patient Subgroups From the EMBRACA Study: Talazoparib vs Physician’s Choice Standard-of-Care Chemotherapy JNCI Cancer Spectrum · 2019 · 26 citations
    8. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    9. Biotinidase deficiency characterized by skin and hair findings Clinics in Dermatology · 2020 · 10 citations
    10. Semidominant Inheritance in Epidermolytic Ichthyosis Journal of Investigative Dermatology · 2013 · 10 citations
    11. Cleave but not leave: Astrotactin proteins in development and disease IUBMB life · 2017 · 8 citations
    12. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome Case reports in genetics · 2015 · 7 citations
    13. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    14. Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA 2018 · 3 citations
    15. Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis Medicine · 2024 · 2 citations
    16. Exome analysis for Cronkhite-Canada syndrome: A case report World Journal of Clinical Cases · 2022 · 2 citations
    17. Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome bioRxiv (Cold Spring Harbor Laboratory) · 2022 · 2 citations
    18. Functional Characterization of<i>fer-ts</i>, a Temperature-Sensitive FERONIA Mutant Allele That Alters Root Hair Growth bioRxiv (Cold Spring Harbor Laboratory) · 2020 · 1 citations
    19. 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells Journal of Investigative Dermatology · 2019 · 1 citations
    20. Generalised Glucocorticoid Resistance touchREVIEWS in Endocrinology · 2008 · 1 citations
    21. Persistent Hypoglycemia and Macrosomia in a Newborn Pediatrics in Review · 2026
    22. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    23. Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts Cells · 2025
    24. Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots International Journal of Contemporary Pediatrics · 2025
    25. 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks 2022
    26. Editor's evaluation: Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness 2022
    27. Independent DSG4 frameshift variants in cats with hair shaft dystrophy Molecular genetics and genomics · 2021
    28. Proscar and Propecia: the Gary and Jerry show Oxford University Press eBooks · 2020
    29. 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC) Journal of Investigative Dermatology · 2019
    30. 892 Behavior of the two circulating androgens testosterone and DHEA and their main intracellular metabolites in an androgen-sensitive sebocyte cell line Journal of Investigative Dermatology · 2019