Works matching IS 2054345X AND DT 2024 AND VI 11 AND IP 1
Results: 47
Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00293-w
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- Article
Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00294-9
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- Article
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00287-8
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Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00292-x
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A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00291-y
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Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00290-z
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Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00289-6
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- Article
The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00288-7
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Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00283-y
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- Article
Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00286-9
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- Article
Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00285-w
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- Article
TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00284-x
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- Article
Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00281-0
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- Article
Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00276-x
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- Article
Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00272-1
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Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00270-3
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Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00282-z
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- Article
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00278-9
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- Article
Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00275-y
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Investigating mobile element variations by statistical genetics.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00280-1
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NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00279-8
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- Article
Characteristic craniofacial defects associated with a novel USP9X truncation mutation.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00277-w
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- Article
Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00274-z
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End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00273-0
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- Article
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00271-2
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A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00269-w
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- Article
BARD1 deletion in a patient with suspected hereditary colorectal cancer.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00267-y
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A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00266-z
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- Article
Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00268-x
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- Article
A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00265-0
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Novel variant of FBN2 in a patient with congenital contractual arachnodactyly.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00264-1
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Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber's hereditary optic neuropathy (LHON).
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00258-5
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A recurrent synonymous L1CAM variant in a fetus with hydrocephalus.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00263-2
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Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00259-4
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Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00262-9
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Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00261-w
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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00260-x
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- Article
Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00303-x
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Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00300-0
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Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00302-y
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- Article
CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00298-5
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Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00304-w
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High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00301-z
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- Article
A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00296-7
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A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00297-6
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- Article
Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00299-4
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Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00295-8
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- Article