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Research 151–180 of 1000+
- Host Genetic Susceptibility and Impacts of Dietary Factors on Covid-19
- Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
- A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
- Unravelling the Genetics of Physical Appearance Variation in Modern Humans
- 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study
- Localized variant of junctional epidermolysis bullosa with R795X mutation
- Human genetic basis of coronavirus disease 2019
- The genetics of autism and steroid-related traits in prenatal and postnatal life
- Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women-Part II: Association of
- Pharmacogenetic Determinants of Valproic Acid Efficacy, Toxicity, and Serum Levels in Genetic Generalized Epilepsy
- Integrated single-cell chromatin and transcriptomic analyses of human scalp reveal etiological insights into genetic risk for hair and skin disease
- Insights into Male Androgenetic Alopecia: Differential Gene Expression Profiling of Plucked Hair Follicles and Integration with Genetic Data
- Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
- EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
- The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
- CPC12 Coinheritance of <i>BRCA2</i> and <i>CYLD</i> germline pathogenic variants associated with targetable metastatic malignant cylindroma
- Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
- EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
- Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Discovery of Four New<em> FGF5</em> Variants Causing Long Hair in the Dog
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
- MCAS, POTS, Dysautonomia, and “Genetic Disorders” — Long COVID Observations
- 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
- Independent DSG4 frameshift variants in cats with hair shaft dystrophy
- Siberian cats help in solving part of the mystery surrounding golden cats
- A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions