Works matching IS 00099163 AND DT 2024 AND VI 106 AND IP 2
Results: 12
Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 193, doi. 10.1111/cge.14537
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Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 209, doi. 10.1111/cge.14540
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Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype–phenotype relationship in RASopathies.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 199, doi. 10.1111/cge.14539
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Heritability of cancers in Japanese population: Estimation from recent cohort data.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 204, doi. 10.1111/cge.14535
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Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 187, doi. 10.1111/cge.14534
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Severe manifestation of Rauch‐Azzarello syndrome associated with biallelic deletion of CTNND2.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 180, doi. 10.1111/cge.14532
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Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 150, doi. 10.1111/cge.14523
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Novel copy number variations and phenotypes of infantile epileptic spasms syndrome.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 161, doi. 10.1111/cge.14520
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Identification of genetic causes in children with unexplained epilepsy based on trio‐whole exome sequencing.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 140, doi. 10.1111/cge.14519
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Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 127, doi. 10.1111/cge.14517
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Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 119, doi. 10.1111/cge.14516
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 2, p. 117, doi. 10.1111/cge.14373
- Publication type:
- Article