Found: 16
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Myoclonus‐Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 264, doi. 10.1002/mdc3.13369
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- Publication type:
- Article
Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.
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- European Journal of Human Genetics, 2002, v. 10, n. 4, p. 250, doi. 10.1038/sj.ejhg.5200798
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- Article
Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1.
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- Journal of Clinical Immunology, 2018, v. 38, n. 1, p. 88, doi. 10.1007/s10875-017-0462-y
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- Article
Family‐centred care interventions for children with chronic conditions: A scoping review.
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- Health Expectations, 2024, v. 27, n. 1, p. 1, doi. 10.1111/hex.13897
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- Article
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
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- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-023-04393-4
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- Article
The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3793, doi. 10.1002/ajmg.a.62452
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- Article
Further delineation of Basel‐Vanagaite‐Smirin‐Yosef syndrome: Report of three patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1785, doi. 10.1002/ajmg.a.61603
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- Article
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 183, doi. 10.1002/ajmg.a.38010
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- Publication type:
- Article
Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2098, doi. 10.1002/ajmg.a.37134
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- Article
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1579, doi. 10.1002/ajmg.a.35399
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- Article
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
- Published in:
- 2020
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- Publication type:
- journal article
Cerebellar liponeurocytoma: a rare intracranial tumor with possible familial predisposition. Case report.
- Published in:
- Journal of Neurosurgery, 2016, v. 125, n. 1, p. 57, doi. 10.3171/2015.6.jns142965
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- Article
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.
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- 2011
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- Publication type:
- journal article
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.
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- Annals of Neurology, 2011, v. 69, n. 5, p. 866, doi. 10.1002/ana.22331
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- Article
ALU transposition induces familial hypertrophic cardiomyopathy.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.951
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- Publication type:
- Article
De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.804078
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- Article