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Addressing Cybersecurity Risks During the COVID-19 Pandemic.
- Published in:
- MDAdvisor: A Journal for the New Jersey Medical Community, 2020, v. 13, n. 4, p. 33
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- Publication type:
- Article
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 940, doi. 10.1002/mdc3.13086
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- Publication type:
- Article
Fatty liver in a non-obese patient.
- Published in:
- 2017
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- Publication type:
- Case Study
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
- Published in:
- 2017
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- Publication type:
- journal article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-98
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- Publication type:
- Article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
- Published in:
- 2013
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- Publication type:
- journal article
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
- Published in:
- 2012
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- Publication type:
- journal article
Specific combination of compound heterozygous mutations in 17βhydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 90, doi. 10.1186/1750-1172-7-90
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- Publication type:
- Article
Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings.
- Published in:
- 2014
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- Publication type:
- case study
Novel Mutation in ABCA3 Resulting in Fatal Congenital Surfactant Deficiency in Two Siblings.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2014, v. 189, n. 6, p. 750, doi. 10.1164/rccm.201312-2225le
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- Publication type:
- Article
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-023-04393-4
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- Publication type:
- Article
Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 926, doi. 10.1002/jimd.12365
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- Publication type:
- Article
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1321, doi. 10.1002/jimd.12278
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- Publication type:
- Article
A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.
- Published in:
- 2011
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- Publication type:
- Other
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-36
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- Publication type:
- Article
Cover Image, Volume 58, Number 7, July 2023.
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- Pediatric Pulmonology, 2023, v. 58, n. 7, p. i, doi. 10.1002/ppul.26552
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- Publication type:
- Article
First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.
- Published in:
- Pediatric Pulmonology, 2023, v. 58, n. 7, p. 1942, doi. 10.1002/ppul.26414
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- Publication type:
- Article
Back Cover, Volume 40, Issue 8.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. ii, doi. 10.1002/humu.23893
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- Publication type:
- Article
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
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- Human Mutation, 2019, v. 40, n. 8, p. 1084, doi. 10.1002/humu.23752
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- Publication type:
- Article
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3597, doi. 10.1093/hmg/ddac040
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- Publication type:
- Article
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6293, doi. 10.1093/hmg/ddv337
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- Publication type:
- Article
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1688, doi. 10.1002/ajmg.a.38838
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- Publication type:
- Article
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1115, doi. 10.1002/ajmg.a.38658
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- Publication type:
- Article
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 967, doi. 10.1002/ajmg.a.37519
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- Publication type:
- 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
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
- Published in:
- 2020
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- Publication type:
- journal article
Very late-onset Sandhoff disease presenting as Kennedy disease.
- Published in:
- 2015
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- Publication type:
- case study
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 504, doi. 10.1002/mgg3.223
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- Publication type:
- Article
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggests a single entity with Cowden syndrome.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1461, doi. 10.1093/hmg/8.8.1461
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- Publication type:
- Article
Mutations in the Δ[sup 1]-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1411, doi. 10.1093/hmg/7.9.1411
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- Publication type:
- Article
Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 239, doi. 10.1093/hmg/7.2.239
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- Publication type:
- Article
Characterization of a cystathionine β-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1883
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- Publication type:
- Article
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 8, p. 1037, doi. 10.1177/0883073814553272
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- Publication type:
- Article
Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone.
- Published in:
- 2016
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- Publication type:
- journal article
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2015, v. 187, n. 2, p. 102, doi. 10.1503/cmaj.140657
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- Publication type:
- Article