Found: 8
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The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1867, doi. 10.3390/jpm12111867
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- Publication type:
- Article
Pediatric Epilepsy Genetic Testing Results and Long-term Seizure Freedom.
- Published in:
- Journal of Child Neurology, 2024, v. 39, n. 11/12, p. 409, doi. 10.1177/08830738241279225
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- Publication type:
- Article
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1888
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- Publication type:
- Article
A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies.
- Published in:
- 2023
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- Publication type:
- Case Study
On the edge—A diagnostic odyssey.
- Published in:
- Clinical Case Reports, 2022, v. 10, n. 4, p. 1, doi. 10.1002/ccr3.5688
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- Publication type:
- Article
Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 64, doi. 10.3390/ijns9040064
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- Publication type:
- Article
Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006292
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- Publication type:
- Article
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006242
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- Publication type:
- Article