Found: 22
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 4, p. e18, doi. 10.1093/nar/gkad1223
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- Publication type:
- Article
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
- Published in:
- 2020
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- Publication type:
- letter
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 2, p. 304, doi. 10.1002/ana.26381
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- Publication type:
- Article
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 2052, doi. 10.1002/acn3.51454
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- Publication type:
- Article
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
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- Publication type:
- Article
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01312-9
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- Publication type:
- Article
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01123-w
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- Publication type:
- Article
Health literacy in patients with gout: A latent profile analysis.
- Published in:
- PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0300983
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- Publication type:
- Article
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.708348
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- Publication type:
- Article
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.
- Published in:
- Human Genetics, 2023, v. 142, n. 6, p. 721, doi. 10.1007/s00439-023-02550-4
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- Publication type:
- Article
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1195, doi. 10.1002/jimd.12679
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- Publication type:
- Article
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00268-8
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- Publication type:
- Article
Back Cover, Volume 43, Issue 7.
- Published in:
- Human Mutation, 2022, v. 43, n. 7, p. ii, doi. 10.1002/humu.24420
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- Publication type:
- Article
Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome.
- Published in:
- Human Mutation, 2022, v. 43, n. 7, p. 900, doi. 10.1002/humu.24375
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- Publication type:
- Article
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
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- Publication type:
- Article
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2153, doi. 10.1002/ajmg.a.62727
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- Publication type:
- Article
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565
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- Publication type:
- Article
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 648, doi. 10.1002/ajmg.a.62561
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- Publication type:
- Article
Risk of sudden cardiac death in EXOSC5‐related disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2532, doi. 10.1002/ajmg.a.62352
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- Publication type:
- Article
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1972, doi. 10.1002/ajmg.a.62192
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- Publication type:
- Article
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1288, doi. 10.1002/ajmg.a.62100
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- Publication type:
- Article
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2919, doi. 10.1002/ajmg.a.61878
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- Publication type:
- Article