research Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Pegvaliase is recommended for treating adults with phenylketonuria.
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research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research Endocrine Influences on Hair Growth
Hormones and genetics affect hair growth and patterns, with some changes reversible and others not.
research Epidemiological and investigative study of premature graying of hair in higher secondary and pre-university school children
Kids with early graying hair often have low levels of calcium, ferritin, and vitamin D3.
research A Clinical Approach to Severe Insulin Resistance
Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
research Characterization of X-Linked SNP genotypic variation in globally distributed human populations
The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Considerations in genetic counseling of transgender patients: Cultural competencies and altered disease risk profiles
Genetic counselors should be culturally skilled and aware of transgender patients' unique health risks and needs.
research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research The genetics of alopecia areata
Alopecia areata has a complex genetic basis that was not fully understood as of 2001.
research Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Male androgenetic alopecia (Part II)
Finasteride effectively treats male hair loss, increasing length and thickness.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research Predicting Human Appearance from DNA for Forensic Investigations
DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
research The dental needs of children with Epidermolysis Bullosa and service delivery: a scoping review
Children with Epidermolysis Bullosa need better access to specialized dental care.
research Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Overactive bladder in men
Finasteride increases hair count and improves hair growth with low risk of side effects.
research Forensic DNA phenotyping: the need for proportionate regulation and judicial clarity in law enforcement
Unified regulations and ethical guidelines are needed for fair use of forensic DNA phenotyping.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Genomic Portraiture: The Science and Ethics of DNA Phenotyping in Identity Prediction
DNA phenotyping can predict physical traits like eye, hair, and skin color, improving forensic investigations.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Androgenetic Alopecia in Al-Qalyubia Governorate: A Comprehensive Review
Current treatments for androgenetic alopecia manage symptoms but don't cure it, and it affects social and psychological well-being.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Australian Hair and Wool Research Society Cutaneous Biology and Endocrinology Workshop
The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
research Book Reviews
The document recommends all three dermatology books for a library, noting their detailed content but also suggesting improvements in clarity and consistency.