15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
11 citations
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June 2012 in “Journal of Dermatological Science” Scientists identified a group of human skin cells with high growth and regeneration potential.
70 citations
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December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
25 citations
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September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
9 citations
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July 2017 in “Case Reports in Dermatology” Combination therapy helped patient with advanced Hidradenitis Suppurativa achieve remission.
January 2016 in “eScholarship (California Digital Library)” HBCs in the olfactory epithelium can self-renew or differentiate into other cell types, with specific patterns during regeneration.
May 2023 in “Research Square (Research Square)” The HDDPiW-jSB solution may prevent hair loss caused by docetaxel in rats when applied regularly.
76 citations
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January 1998 in “Mammalian Genome”
42 citations
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September 2007 in “The Journal of Clinical Endocrinology and Metabolism” The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
59 citations
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May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
14 citations
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February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
56 citations
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February 2012 in “Developmental biology” Sostdc1 controls the size and number of hair and mammary gland structures.
6 citations
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November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
24 citations
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December 2019 in “PLoS ONE” The BHBS is a valid tool to study cultural norms and breast cancer risk in Black women.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
December 2025 in “Plastic & Reconstructive Surgery” The treatment effectively reduces hair loss and improves hair growth with minimal side effects.
35 citations
,
June 2011 in “British Journal of Dermatology” The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
May 2018 in “International Society of Hair Restoration Surgery” March 2018 in “International Society of Hair Restoration Surgery” January 2018 in “International Society of Hair Restoration Surgery” September 2017 in “International Society of Hair Restoration Surgery” July 2017 in “International Society of Hair Restoration Surgery” May 2017 in “International Society of Hair Restoration Surgery” 66 citations
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August 2007 in “Applied and environmental microbiology” The engineered yeast strain BLYAS can quickly and sensitively detect androgenic chemicals.
3 citations
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July 2023 in “International Journal of Biological Macromolecules” The hydrogel helps heal wounds and regrow hair by mimicking a baby's environment.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
12 citations
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September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.