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August 1988 in “Journal of Investigative Dermatology”
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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April 2018 in “Journal of Investigative Dermatology” The conclusion is that differentiating wound types in RDEB patients is important for clinical trials and understanding the disease.
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
November 2025 in “Journal of Investigative Dermatology”
January 2004 in “Online Publication Service of Würzburg University (Würzburg University)” Women with PCOS have higher 5alpha-reductase activity, affecting steroid levels.
August 2023 in “Journal of Cosmetic Dermatology” QR678 Neo® improved seborrheic dermatitis symptoms in a small group of patients.
January 2013 in “CINECA IRIS Institutial research information system (University of Pisa)”
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
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May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
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May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
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January 2016 in “Journal of clinical biochemistry and nutrition” Deferasirox combined with sorafenib reduces liver cancer risk and lessens treatment side effects.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
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January 1989 in “Carcinogenesis” Dexamethasone reduces inflammation and delays skin cell changes caused by TPA.
August 2025 in “ChemPhotoChem” A new method using solid-state circular dichroism anisotropy can distinguish similar chiral compounds better than traditional techniques.
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
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January 2023 in “Uro” UHP-sCESr is as effective as HESr for treating BPH symptoms.
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May 2014 in “Journal of The American Academy of Dermatology” The project aimed to understand how genetic test results affect patients' actions and feelings in dermatology.
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May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
January 2007 in “Journal of Southwest University” The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.