「An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32–11.22」の関連論文
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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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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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Cryptic insertion of CBFB into MYH11 leading to a type D fusion in acute myeloid leukemia with normal karyotype
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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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Prognostic stratification for IDH-wild-type lower-grade astrocytoma by Sanger sequencing and copy-number alteration analysis with MLPA
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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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Genome-wide association studies on hepatocellular carcinoma after eradication of hepatitis C virus in Japanese and on chronic hepatitis B in Thai
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PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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RUNX1 rearrangement in mature B-cell acute lymphoblastic leukemia with non-L3 morphology
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Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen
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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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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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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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Bioengineering and Cell-derived Strategies for Salivary Gland Regeneration
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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Decreased serum phosphate levels are a useful biomarker to predict occurrence and severity of cytokine release syndrome in chimeric antigen receptor T-cell therapy
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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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Paraneoplastic Pemphigus Mimicking Toxic Epidermal Necrolysis Associated with Follicular Lymphoma: Possible Pathological Role of CD8 T Cells.
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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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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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Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
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Vertical Transmission of Coxsackievirus A6 with Severe Congenital Pneumonia/Sepsis
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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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Genetic basis of female-limited polymorphism of the damselfly Ischnura senegalensis
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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Landscape of driver mutations and their clinical impacts in pediatric B-cell precursor acute lymphoblastic leukemia
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Usefulness of Endoscopic Ultrasound Elastography Combined With the Strain Ratio in the Estimation of Treatment Effect in Autoimmune Pancreatitis
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Spontaneous regression of hidroacanthoma simplex after skin biopsy
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Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
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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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Individual Differences in Autistic Traits are Associated with Serotonin Transporter Gene Polymorphism Through Medial Prefrontal Function: A Study Using NIRS
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Individual Differences in Autistic Traits are Associated with Serotonin Transporter Gene Polymorphism Through Medial Prefrontal Function: A Study Using NIRS
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成獣ライディッヒ細胞における性染色体の機能解析
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Polo-like kinase 4 and stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy
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Simple, Frequent Indicator for Personal Identification-Postmortem and Antemortem Abdominal Computed Tomography Findings of a Charred Body.
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T2-FLAIR mismatch sign in dysembryoplastic neuroepithelial tumor
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T2-FLAIR mismatch sign in dysembryoplastic neuroepithelial tumor
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Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing (本文)
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Texture indices of 4′-[methyl-11C]-thiothymidine uptake predict p16 status in patients with newly diagnosed oropharyngeal squamous cell carcinoma : comparison with 18F-FDG uptake
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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Pharmacogenomic study of anti-tuberculosis drugs-induced liver injury in Thais
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Pulmonary syphilis with a cicatricial variant of organizing pneumonia: a case report
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery
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Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report
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Beneficial screening of Fabry disease in patients with hypohidrosis