Found: 18
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Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. e43, doi. 10.1093/brain/awae052
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- Article
Longitudinal changes in brain metabolites following pediatric concussion.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-52744-7
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- Publication type:
- Article
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo.
- Published in:
- G3: Genes | Genomes | Genetics, 2022, v. 12, n. 5, p. 1, doi. 10.1093/g3journal/jkac067
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- Publication type:
- Article
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 78, doi. 10.3390/ijns7040078
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- Publication type:
- Article
De novo variants in MPP5 cause global developmental delay and behavioral changes.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 20, p. 3388, doi. 10.1093/hmg/ddaa224
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- Publication type:
- Article
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 835, doi. 10.1111/cge.13736
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- Publication type:
- Article
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1395, doi. 10.1002/acn3.50824
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- Publication type:
- Article
Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2487, doi. 10.1002/ajmg.a.40516
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- Publication type:
- Article
Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1452, doi. 10.1002/ajmg.a.38227
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- Publication type:
- Article
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 596, doi. 10.1002/ajmg.a.37983
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- Publication type:
- Article
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 760, doi. 10.1002/ajmg.a.37514
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- Publication type:
- Article
Comparative analysis of genes regulated by Dzip1/ iguana and hedgehog in zebrafish.
- Published in:
- Developmental Dynamics, 2015, v. 244, n. 2, p. 211, doi. 10.1002/dvdy.24237
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- Publication type:
- Article
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4483, doi. 10.1038/ncomms5483
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- Publication type:
- Article
The hutterite variant of treacher collins syndrome: A 28-year-old story solved.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2855, doi. 10.1002/ajmg.a.36172
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- Publication type:
- Article
Optimizing genotype quality metrics for individual exomes and cohort analysis.
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- 2012
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- Publication type:
- Abstract
Patterns and phenotypes: Expression of multiple class three semaphorins in the retina and along the path of zebrafish retinal axons.
- Published in:
- Developmental Dynamics, 2008, v. 237, n. 3, p. 860, doi. 10.1002/dvdy.21473
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- Publication type:
- Article
Expression of multiple class three semaphorins in the retina and along the path of zebrafish retinal axons.
- Published in:
- Developmental Dynamics, 2007, v. 236, n. 10, p. 2918, doi. 10.1002/dvdy.21315
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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