Found: 14
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Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00445-5
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- Publication type:
- Article
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1508
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- Publication type:
- Article
Cochlear nerve deficiency in SOX11‐related Coffin‐Siris syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2460, doi. 10.1002/ajmg.a.62851
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- Publication type:
- Article
A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1299, doi. 10.1002/ajmg.a.62631
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- Publication type:
- Article
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 820, doi. 10.1002/ajmg.a.38076
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- Publication type:
- Article
Emerging targeted drug therapies in skeletal dysplasias.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2596, doi. 10.1002/ajmg.a.37734
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- Publication type:
- Article
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1363, doi. 10.1002/ajmg.a.37548
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- Publication type:
- Article
Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0058-3
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- Publication type:
- Article
A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata.
- Published in:
- Pediatric Dermatology, 2022, v. 39, n. 2, p. 268, doi. 10.1111/pde.14939
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- Publication type:
- Article
IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 72, doi. 10.1111/cge.14136
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- Publication type:
- Article
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
- Published in:
- JAMA Pediatrics, 2017, v. 171, n. 9, p. 855, doi. 10.1001/jamapediatrics.2017.1755
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- Publication type:
- Article
Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.
- Published in:
- 2016
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- Publication type:
- journal article
Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases.
- Published in:
- 2015
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- Publication type:
- journal article
Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 6, p. 312, doi. 10.1159/000450533
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- Publication type:
- Article