「An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome」の関連論文
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
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Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Wilson’s disease model establishment from human induced pluripotent stem cells
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Clinical and genetic features of cystic fibrosis in Japan
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing
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Evolutionary histories of breast cancer and related clones
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Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
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Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Molecular genetic study of the FMR1 CGG repeat configurations in the Japanese population and patients with Fragile X-Associated Tremor/Ataxia Syndrome
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
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The association of thyroglobulin single nucleotide polymorphism with miniature dachshunds-specific inflammatory colorectal polyps and its involvement in interleukin-6 amplifier induced chronic inflammation
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卵巣低異型度漿液性癌のin vitro発癌モデル
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A clinical and genetic study of SPG31 in Japan
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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
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Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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The landscape of genetic aberrations in myxofibrosarcoma
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An autopsy case of primary gliosarcoma with multiple extracranial metastases: pathology after administration of bevacizumab and genetic profile
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Comprehensive genomics in androgen receptor-dependent castration-resistant prostate cancer identifies an adaptation pathway mediated by opioid receptor kappa 1
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.
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ATM suppresses c-Myc overexpression in the mammary epithelium in response to estrogen
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Sarcomatoid mesothelioma diagnosed in a patient with mesothelioma in situ: a case report on morphologic differences after 9-month interval with details analysis of cytology in early-stage mesothelioma
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Variation of body weight and seasonal reproduction in populations from different latitudes: genetic analyses using wild-derived medaka fish
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A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
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Inhibition of autophagy in theca cells induces CYP17A1 and PAI-1 expression via ROS/p38 and JNK signalling during the development of polycystic ovary syndrome
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Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
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Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
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Combined Hypophysitis and Type 1 Diabetes Mellitus Related to Immune Checkpoint Inhibitors
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A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery
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Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
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Efficacious Combination Drug Treatment for Colorectal Cancer that Overcomes Resistance to KRAS G12C Inhibitors
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Development of genetic management methods for rice varieties and prediction of spontaneous mutation frequencies using next-generation sequencing technology [an abstract of entire text]