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    Research 61–90 of 1000+

    1. A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism · 1996 · 29 citations
    2. Lash Ptosis in Congenital and Acquired Blepharoptosis Archives of ophthalmology · 2007 · 28 citations
    3. Congenital adrenal hyperplasia Dermato-endocrinology · 2009 · 26 citations
    4. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002 · 26 citations
    5. Eyelash trichomegaly: review of congenital, acquired, and drug‐associated etiologies for elongation of the eyelashes International Journal of Dermatology · 2012 · 24 citations
    6. Characterization of<i>CDH3</i>-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy JAMA Ophthalmology · 2016 · 23 citations
    7. Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin International Journal of Dermatology · 2009 · 20 citations
    8. Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria British Journal of Ophthalmology · 2001 · 20 citations
    9. Congenital ptosis repair with a frontalis silicon sling: comparison between Fox's single pentagon technique and a modified Crawford double triangle technique Journal of American Association for Pediatric Ophthalmology and Strabismus · 2017 · 16 citations
    10. Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica 2010 · 16 citations
    11. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    12. Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up Chinese Medical Journal · 2006 · 16 citations
    13. Congenital Copper Deficiency: Copper Therapy and Dopamine‐β‐Hydroxylase Activity in the Mottled (Brindled) Mouse Journal of Neurochemistry · 1983 · 16 citations
    14. Molecular basis of congenital atrichia in humans and mice. PubMed · 1999 · 15 citations
    15. Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency Indian Journal of Endocrinology and Metabolism · 2013 · 14 citations
    16. A Hairy Paradox: Congenital Triangular Alopecia with a Central Hair Tuft Dermatology · 2010 · 14 citations
    17. Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita) Journal of dermatology · 1989 · 14 citations
    18. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    19. Congenital triangular alopecia: A close mimicker of alopecia areata International Journal of Trichology · 2011 · 13 citations
    20. Congenital Adrenal Hyperplasia Pediatrics in Review · 2009 · 13 citations
    21. Two different techniques for frontalis suspension using Gore-Tex to treat severe congenital ptosis Graefe s Archive for Clinical and Experimental Ophthalmology · 2017 · 12 citations
    22. Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia 2013 · 12 citations
    23. Giant pigmented tumour of the scalp—a diffuse neurofibroma or a congenital naevus showing neurofibromatous changes? Immunohistochemical and electron microscopic studies Histopathology · 1988 · 12 citations
    24. Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia The Journal of Sexual Medicine · 2019 · 11 citations
    25. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    26. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    27. Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families The Journal of Dermatology · 2011 · 11 citations
    28. Pathological Studies of Cross‐Related Congenital Hypotrichosis in Cattle Journal of veterinary medicine. Series A · 1989 · 11 citations
    29. Steroid 17-Hydroxyprogesterone in Hair Is a Potential Long-Term Biomarker of Androgen Control in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Neuroendocrinology · 2019 · 10 citations
    30. Recent advances in congenital ichthyoses 2015 · 10 citations