「4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay」の関連論文
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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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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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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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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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A clinical and genetic study of SPG31 in Japan
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Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
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A case of Cockayne syndrome with unusually mild clinical manifestations
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思春期早発症の9歳女児に急性発症した上腸間膜動脈症候群の1例
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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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Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias
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MicroRNA profiling in adults with high-functioning autism spectrum disorder
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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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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Beneficial screening of Fabry disease in patients with hypohidrosis
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Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis
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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
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Complete resection and untethering of the cervical and thoracic spinal dermal sinus tracts in adult patients
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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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Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
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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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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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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Current Overview of Osteogenesis Imperfecta.
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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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A case of localized tracheobronchial relapsing polychondritis with positive matrilin-1 staining.
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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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Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction (本文)
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Clinical and genetic features of cystic fibrosis in Japan
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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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Simple, Frequent Indicator for Personal Identification-Postmortem and Antemortem Abdominal Computed Tomography Findings of a Charred Body.
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Case report : Vascular graft infection due to Aspergillus species presenting with recurrent vascular occlusion
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A cerebrospinal fluid microRNA analysis: Progressive supranuclear palsy
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Left and right cardiac performance in children with small heart syndrome - Analysis with cardiac MRI -\n
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Failure of internal fixation for ankle joint Charcot neuroarthropathy with beta(2)-microglobulin amyloidosis: a case report
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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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Temporal arteritis with focal pachymeningitis: a deceptive association
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Case of osteopetrosis with multiple impacted primary and permanent teeth diagnosed at eight years old
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Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multiple MEFV gene variants outside exon 10: a case report
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The Immunology of Takotsubo Syndrome