Found: 7
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Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01191-6
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- Article
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
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- Clinical Genetics, 2023, v. 103, n. 3, p. 346, doi. 10.1111/cge.14264
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- Article
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36654-8
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- Article
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
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- Human Mutation, 2022, v. 43, n. 12, p. 1882, doi. 10.1002/humu.24438
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- Article
Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.
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- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01871
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- Article
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63642
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- Article
First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3343, doi. 10.1002/ajmg.a.62954
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- Article