Found: 18
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Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1401705
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- Article
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36606-w
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- Publication type:
- Article
Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1637, doi. 10.1002/ajmg.a.61599
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- Article
ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 615, doi. 10.1002/ajmg.a.61073
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- Article
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.
- Published in:
- Cytogenetic & Genome Research, 2017, v. 152, n. 3, p. 132, doi. 10.1159/000480030
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- Publication type:
- Article
Clinical and genetic aspects of KBG syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2835, doi. 10.1002/ajmg.a.37842
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- Article
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 737, doi. 10.1002/humu.23006
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- Article
CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
- Published in:
- 2016
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- Publication type:
- journal article
Mitochondria DNA Depletion Syndrome in a Infant with Multiple Congenital Malformations, Severe Myopathy, and Prolonged Postoperative Paralysis.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 5, p. 654, doi. 10.1177/0883073814532546
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- Publication type:
- Article
A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 194, doi. 10.1002/ajmg.a.36202
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- Publication type:
- Article
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
- Published in:
- 2013
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- Publication type:
- journal article
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
- Published in:
- Clinical Endocrinology, 2013, v. 78, n. 6, p. 898, doi. 10.1111/cen.12074
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- Publication type:
- Article
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 922, doi. 10.1038/ng.2349
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- Publication type:
- Article
An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.
- Published in:
- Familial Cancer, 2007, v. 6, n. 3, p. 317, doi. 10.1007/s10689-007-9119-y
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- Publication type:
- Article
Corrigendum: PLA2G6, encoding a phospholipase A<sub>2</sub>, is mutated in neurodegenerative disorders with high brain iron.
- Published in:
- 2006
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- Correction notice
PLA2G6, encoding a phospholipase A<sub>2</sub>, is mutated in neurodegenerative disorders with high brain iron.
- Published in:
- Nature Genetics, 2006, v. 38, n. 7, p. 752, doi. 10.1038/ng1826
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- Publication type:
- Article
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 17, p. 1767, doi. 10.1093/hmg/10.17.1767
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- Publication type:
- Article
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1767, doi. 10.1093/hmg/10.17.1767
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- Publication type:
- Article