Works matching IS 2054345X AND DT 2022
Results: 52
Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00226-5
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- Article
Acknowledgement to the Reviewers.
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- 2022
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- Correction Notice
The NBDC-DDBJ imputation server facilitates the use of controlled access reference panel datasets in Japan.
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- 2022
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- Publication type:
- Product Review
Building cloud computing environments for genome analysis in Japan.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00223-8
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- Article
A novel FLNA variant in a fetus with skeletal dysplasia.
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- Human Genome Variation, 2022, p. 1, doi. 10.1038/s41439-022-00224-7
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- Article
TogoVar: A comprehensive Japanese genetic variation database.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00222-9
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- Article
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00220-x
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- Article
A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00221-w
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- Article
Atypical Sotos syndrome caused by a novel splice site variant.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00219-4
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- Article
Novel missense COL2A1 variant in a fetus with achondrogenesis type II.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00218-5
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- Article
Distal 2q duplication in a patient with intellectual disability.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00215-8
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- Publication type:
- Article
National Center Biobank Network.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00217-6
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- Article
An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00216-7
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- Publication type:
- Article
Cloud service checklist for academic communities and customization for genome medical research.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00214-9
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- Publication type:
- Article
A Japanese patient with neonatal biotin-responsive basal ganglia disease.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00210-z
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- Publication type:
- Article
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00213-w
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- Publication type:
- Article
The ATRX splicing variant c.21-1G>A is asymptomatic.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00212-x
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- Publication type:
- Article
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00211-y
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- Publication type:
- Article
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00208-7
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- Publication type:
- Article
A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00209-6
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- Article
A Japanese family with dystonia due to a pathogenic variant in SGCE.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00207-8
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- Publication type:
- Article
Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00206-9
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- Publication type:
- Article
A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00204-x
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- Article
Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family.
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- 2022
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- Publication type:
- Correction Notice
A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00204-x
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- Publication type:
- Article
Succinate dehydrogenase B-deficient renal cell carcinoma with a germline variant in a Japanese patient: a case report.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00202-z
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- Publication type:
- Article
A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00199-5
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- Publication type:
- Article
Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00196-8
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- Publication type:
- Article
A rare homozygous missense mutation of COL7A1 in a Vietnamese family.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00192-y
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- Publication type:
- Article
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00203-y
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- Publication type:
- Article
Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00200-1
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- Article
Online tools for efficient paper writing.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00195-9
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- Article
A rare homozygous missense mutation of COL7A1 in a Vietnamese family.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00192-y
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- Publication type:
- Article
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00198-6
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- Article
Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00197-7
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- Publication type:
- Article
Novel NARS2 variant causing leigh syndrome with normal lactate levels.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00191-z
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- Article
Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00194-w
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- Article
Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00193-x
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- Publication type:
- Article
A rare homozygous missense mutation of COL7A1 in a Vietnamese family.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00192-y
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- Publication type:
- Article
Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00190-0
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- Publication type:
- Article
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00186-w
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- Article
Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00189-7
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- Article
Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00181-1
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- Article
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00187-9
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- Publication type:
- Article
Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00185-x
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- Article
Two novel heterozygous variants in ATP1A3 cause movement disorders.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00184-y
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- Publication type:
- Article
Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00183-z
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- Publication type:
- Article
Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00188-8
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- Article
A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00182-0
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- Publication type:
- Article
A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-021-00180-8
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- Publication type:
- Article