research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
Search
for
Sort by
Research
990-1000 / 1000+ resultsresearch Allergen desensitization reduces the severity of relapsed alopecia areata in dust‐mite allergic patients
Allergen desensitization reduces hair loss severity in dust-mite allergic alopecia areata patients.
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Low‐dose oral minoxidil improves global hair density and length in children with loose anagen hair syndrome
Low-dose oral minoxidil increases hair thickness and length in children with a hair disorder called Loose Anagen Hair Syndrome.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research PSS38 USE OF CALL CENTRE METHODOLOGY TO COLLECT QUALITY OF LIFE (QOL) DATA IN A CLINICAL TRIAL: A CASE STUDY OF PATIENTS WITH DIABETIC MACULAR EDEMA (DME)
Using a call center to collect data in a trial for eye disease in diabetics led to high response rates and very little missing information.
research The Hair-An Syndrome: A Report of a Misdiagnosed Case with Unfortunate Outcome
A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
research ABHRS Sets Plans for Coming Year
The ABHRS has outlined its goals for the next year.