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Research 181–210 of 1000+
- A missense mutation in Lama3 causes androgen alopecia
- 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
- The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
- Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
- Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the <i>LIPH</i> gene at c.742C > A and c.614A > G: The first Japanese case
- Pachyonychia congenita: Sporadic onset with mutation analysis
- Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
- LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation
- Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath
- SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
- 131 Mutational landscape of extramammary Paget disease
- 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
- Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
- Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
- 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
- Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
- A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
- Management of pregnancy in a carrier of the Donohue mutation
- Curly : a new hair defect mutation in the SELH/bc mouse strain
- Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
- A Mutation of the Androgen Receptor Associated with Partial Androgen Resistance, Familial Gynecomastia, and Fertility*
- A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
- Phospholipase C‐δ1 is an essential molecule downstream of <i>Foxnl,</i> the gene responsible for the nude mutation, in normal hair development
- Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
- Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
- Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
- Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family