「Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing」の関連論文
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Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
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Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Genetic and Epigenetic Pathogenesis of Acromegaly
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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
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Identifying Potentially Beneficial Genetic Mutations Associated with Monophyletic Selective Sweep and a Proof-of-Concept Study with Viral Genetic Data
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Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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The ocular involvement did not accompany with the genital ulcer or the gastrointestinal symptoms at the early stage Behcet’s disease
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A cerebrospinal fluid microRNA analysis: Progressive supranuclear palsy
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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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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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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Studies on Age-related Changes of Lipid Metabolisms
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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Genome-wide association study of serum prostate-specific antigen levels based on 1000 Genomes imputed data in Japanese : the Japan Multi-Institutional Collaborative Cohort Study
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Latest classification of ependymoma in the molecular era and advances in its treatment: a review
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Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
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Evolutionary genetics of socioemotional behavior in humans and other mammals
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Evolutionary histories of breast cancer and related clones
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Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
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Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation
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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
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HLA-B*51:01 and CYP2C9*3 are risk factors for phenytoin-induced eruption in the Japanese population: analysis of data from the Biobank Japan Project
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Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
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Primary functional brain connections associated with melancholic major depressive disorder and modulation by antidepressants
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Primary functional brain connections associated with melancholic major depressive disorder and modulation by antidepressants
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MicroRNA profiling in adults with high-functioning autism spectrum disorder
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Role of serotonin 4 receptor in the growth of axon and dendrites of hippocampal neurons during the embryonic development in mice
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in silico analysis of RNA expression profiles as potential biomarkers under spaceflight
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Transposon delivery for CRISPR-based loss-of-function screen in mice identifies NF2 as a cooperating gene involved with the canonical WNT signaling molecular class of hepatocellular carcinoma
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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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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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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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Insights from a computational analysis of the SARS-CoV-2 Omicron variant: Host-pathogen interaction, pathogenicity, and possible drug therapeutics
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Study on the role of CtBP2 in pancreatic β cell
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Cholinergic Urticaria: Subtype Classification and Clinical Approach
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A clinical and genetic study of SPG31 in Japan
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Immunohistochemical assessment of sex-determining region Y (SRY)-related high mobility group (HMG)-box 2 (Sox2) and Krüppel-like factor 4 (Klf4) in ameloblastomas
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Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
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Annexin A10 is involved in the induction of pancreatic duodenal homeobox-1 in gastric cancer tissue, cells and organoids
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Annexin A10 is involved in the induction of pancreatic duodenal homeobox-1 in gastric cancer tissue, cells and organoids
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Pluripotent stem cell-based therapies and their path to the clinic
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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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Establishment of induced pluripotent stem cells from schizophrenia discordant fraternal twins
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The Immunology of Takotsubo Syndrome
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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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In silico study of RNA-seq and H3 Trimethylation ChIP-seq analysis in combination with laser-microdissection on human lung cancer cells
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Variation of body weight and seasonal reproduction in populations from different latitudes: genetic analyses using wild-derived medaka fish