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Research 811–840 of 1000+
- Colourless side of the <i>nude</i> mutation: Foxn1 and hair pigmentation
- ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
- Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
- Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
- Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis
- Defective trophoblast function in mice with a targeted mutation of Ets2
- Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
- Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
- Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
- An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess
- Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
- Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers
- A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
- Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i>
- A Case Report of Werner’s Syndrome With a Novel Mutation From India
- The urine as a diagnostic key for a homozygous EGFR mutation
- Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K<sub>ATP</sub>Channel Mutations in Intact Cells
- Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
- An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- Alopecia universalis with IL-12-RB1 and STAT4 mutations effectively treated with upadacitinib
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
- Uterus Hyperplasia and Increased Carcinogen-Induced Tumorigenesis in Mice Carrying a Targeted Mutation of the Chk2 Phosphorylation Site in Brca1
- Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor