「Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan」の関連論文
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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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A proof-of-concept study to construct Bayesian network decision models for supporting the categorization of sudden unexpected infant death
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EYS is a major gene involved in retinitis pigmentosa in Japan: Genetic landscapes revealed by stepwise genetic screening.
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Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers
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Investigation of the current situation regarding diagnosis and treatment of Alport syndrome in Asian countries: results of survey of the Asian Paediatric Nephrology association (AsPNA) tubular and inherited working group
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Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates.
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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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Dysbiosis of the salivary microbiota in pediatric-onset primary sclerosing cholangitis and its potential as a biomarker
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report
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Autoantibodies against the plakin family proteins as a novel marker for chronic graft-versus-host disease of the lung
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Comment to our article; Effects of varicocelectomy on testis volume and semen parameters in adolescents: a randomized prospective study
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Real-world application of next-generation sequencing-based test for surgically resectable colorectal cancer in clinical practice (本文)
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Kidney function, blood pressure and proteinuria were associated with pregnancy outcomes of pregnant women with chronic kidney disease: a single-center, retrospective study in the Asian population
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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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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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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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Successful use of an artificial placenta-based life support system to treat extremely preterm ovine fetuses compromised by intrauterine inflammation.
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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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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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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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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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PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
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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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Clinical trial on the efficacy and safety of NPC-15 for patients with xeroderma pigmentosum exaggerated sunburn reaction type: XP-1 study protocol for a multicentre, double-blinded, placebo-controlled, two-group crossover study followed by a long-term open study in Japan
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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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Behavior problems and dysfunctional parenting : Cross-sectional study in Japan.
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Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder
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Endoscopy-focused primary, secondary and tertiary prevention of colorectal cancer
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Kynurenic acid is a potential overlapped biomarker between diagnosis and treatment response for depression from metabolome analysis
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Kynurenic acid is a potential overlapped biomarker between diagnosis and treatment response for depression from metabolome analysis
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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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Freedom from stigma in Fukushima
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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Clinical Characteristics and Outcomes of Heart Failure Patients With Long-Term Care Insurance -Insights From the Kitakawachi Clinical Background and Outcome of Heart Failure Registry-
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Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants
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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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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
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神戸大学の女子学生における性感染症一次スクリーニング法としてのセルフサンプリングの実行可能性および容認性。
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Applicability of care quality indicators for women with low-risk pregnancies planning hospital birth: a retrospective study of medical records
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Impact of a Psychiatric Nurse Specialist as a Liaison for Pregnant Women with Mental Disorders.
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Effect of Avoiding Cow's Milk Formula at Birth on Prevention of Asthma or Recurrent Wheeze Among Young Children: Extended Follow-up From the ABC Randomized Clinical Trial
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COVID-19 preventive behaviours among people with anxiety and depressive symptoms: findings from Japan
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Viability and acceptability of self-sampling as a primary screening method for sexually transmitted infections in female Kobe University students
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Clinical and genetic features of cystic fibrosis in Japan