Found: 7
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Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
- Published in:
- JAMA: Journal of the American Medical Association, 2023, v. 330, n. 2, p. 161, doi. 10.1001/jama.2023.9350
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- Article
Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d‐transposition of the great arteries.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1804
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- Article
Early behavioral and developmental interventions in ADNP‐syndrome: A case report of SWI/SNF‐related neurodevelopmental syndrome.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1230
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- Article
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
- Published in:
- JAMA Pediatrics, 2021, v. 175, n. 5, p. e205906, doi. 10.1001/jamapediatrics.2020.5906
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- Article
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006254
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- Article
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 930, doi. 10.1002/ajmg.a.63097
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- Article
Neonatal complications of Down syndrome and factors necessitating intensive care.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 336, doi. 10.1002/ajmg.a.61948
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- Article