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210-240 / 1000+ resultsresearch STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Vice president's message
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research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Effects on Steroid 5-Alpha Reductase Gene Expression of Thai Rice Bran Extracts and Molecular Dynamics Study on SRD5A2
Thai rice bran extracts, especially from Tubtim Chumphae rice, can significantly reduce the activity of hair loss genes, with x-tocopherol showing potential as an anti-hair loss product.
research An elderly lady in shock.
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research Throwing Caution to the Wind?
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research Literature Review
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research A Prospective Self-controlled Clinical Trial of Nonactivated Low Leukocyte PRP in Female Pattern Hair Loss Patients of Childbearing Age: Erratum
research A Prospective Self-controlled Clinical Trial of Nonactivated Low Leukocyte PRP in Female Pattern Hair Loss Patients of Childbearing Age: Erratum
research Tamoxifen-induced androgenetic alopecia in a dialysis patient with sclerosing encapsulating peritonitis (SEP)
research Surgeon of the Month: Robert Reese, DO
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research Sex dependent influence of a functional polymorphism in steroid 5‐α‐reductase type 2 (SRD5A2) on post‐traumatic stress symptoms
SRD5A2 gene variations affect PTSD symptoms differently in males and females.
research President’s Message
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research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
research Review of the BAHRS 2013 Annual General Meeting
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research Co-editors’ Messages
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research Co-editors’ Messages
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research Co-editors’ Messages
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research Co-editors’ Messages
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research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Co-editors' Messages
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research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.