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Research 31–60 of 806
- Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia.
- 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
- Novel missense mutation in the EDA gene in a family affected by oligodontia
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
- Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
- Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- Association between TLR1 polymorphisms and alopecia areata
- Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
- Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- Cantú syndrome with coexisting familial pituitary adenoma
- CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
- Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
- Abstracts
- Hirsutism Beyond PCOS: Genome-wide Evidence for Genetic Factors
- AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
- The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
- Salt-losing tubulopathy and chronic dermatitis
- Disease causing homozygous variants in the human hairless gene
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia
- A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes