Found: 19
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Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63466
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- Publication type:
- Article
Cover Image, Volume 179A, Number 2, February 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. i, doi. 10.1002/ajmg.a.61059
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- Publication type:
- Article
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 206, doi. 10.1002/ajmg.a.60690
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- Publication type:
- Article
Amyloïdose héréditaire à transthyrétine accompagnée d'un syndrome du canal carpien.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2024, v. 196, n. 14, p. E501, doi. 10.1503/cmaj.230671-f
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- Publication type:
- Article
Hereditary transthyretin amyloidosis presenting with carpal tunnel syndrome.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2024, v. 196, n. 3, p. E95, doi. 10.1503/cmaj.230671
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- Publication type:
- Article
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 978, doi. 10.1038/sj.ejhg.5201436
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- Publication type:
- Article
Scientific correspondence.
- Published in:
- Neuropathology & Applied Neurobiology, 2014, v. 40, n. 7, p. 946, doi. 10.1111/nan.12122
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- Article
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.
- Published in:
- 2005
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- Publication type:
- journal article
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 4, p. 711
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- Publication type:
- Article
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 4, p. 591
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- Publication type:
- Article
Cardiac and respiratory failure in limb‐girdle muscular dystrophy 2I.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 5, p. 738
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- Publication type:
- Article
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 614, doi. 10.1093/hmg/ddab247
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- Publication type:
- Article
SCN1A Mutation Associated With Intractable Myoclonic Epilepsy and Migraine Headache.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 3, p. 389, doi. 10.1177/0883073812443309
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- Publication type:
- Article
Recurrent Posterior Circulation Stroke in an Infant With Basilar Artery Aneurysm.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 8, p. 1019, doi. 10.1177/0883073808331347
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- Publication type:
- Article
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
- Published in:
- Human Mutation, 2005, v. 25, n. 1, p. 38, doi. 10.1002/humu.20110
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- Publication type:
- Article
The importance of functional validation after next‐generation sequencing: evaluation of a novel CARD11 variant.
- Published in:
- Pediatric Allergy & Immunology, 2018, v. 29, n. 6, p. 663, doi. 10.1111/pai.12930
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- Publication type:
- Article
Acquired Microcephaly in a Patient with HECW2 Mutation.
- Published in:
- 2021
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- Publication type:
- Letter
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
- Published in:
- 2015
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- Publication type:
- Case Study
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 28, doi. 10.1186/s12881-015-0175-0
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- Publication type:
- Article