Found: 33
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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
- Published in:
- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00473-3
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- Publication type:
- Article
Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. R1, p. R1, doi. 10.1093/hmg/ddu123
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- Publication type:
- Article
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1373, doi. 10.1093/brain/awac364
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- Publication type:
- Article
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
- Published in:
- 2019
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- Publication type:
- journal article
Inherited Metabolic Disorders.
- Published in:
- Nutrition in Clinical Practice, 2015, v. 30, n. 4, p. 502, doi. 10.1177/0884533615586201
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- Publication type:
- Article
Increased Mitochondrial Oxidative Phosphorylation in the Liver Is Associated With Obesity and Insulin Resistance.
- Published in:
- Obesity (19307381), 2011, v. 19, n. 5, p. 917, doi. 10.1038/oby.2010.214
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- Publication type:
- Article
Genetic resistance to diet-induced obesity in chromosome substitution strains of mice.
- Published in:
- Mammalian Genome, 2010, v. 21, n. 3/4, p. 115, doi. 10.1007/s00335-010-9247-9
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- Publication type:
- Article
Genetic factors for resistance to diet-induced obesity and associated metabolic traits on mouse chromosome 17.
- Published in:
- Mammalian Genome, 2009, v. 20, n. 2, p. 71, doi. 10.1007/s00335-008-9165-2
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- Publication type:
- Article
Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation.
- Published in:
- 2021
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- Publication type:
- journal article
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
- Published in:
- 2021
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- Publication type:
- journal article
RNA Sequencing as a Diagnostic Tool.
- Published in:
- JAMA: Journal of the American Medical Association, 2023, v. 329, n. 1, p. 85, doi. 10.1001/jama.2022.22843
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- Publication type:
- Article
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0360-6
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- Publication type:
- Article
Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations.
- Published in:
- Pediatric Pulmonology, 2022, v. 57, n. 1, p. 224, doi. 10.1002/ppul.25681
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- Publication type:
- Article
A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1816, doi. 10.1002/humu.24497
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- Publication type:
- Article
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 946, doi. 10.1002/humu.23983
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- Publication type:
- Article
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1365, doi. 10.1002/humu.23282
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- Publication type:
- Article
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
- Published in:
- Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-00894-y
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- Publication type:
- Article
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10415-5
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- Publication type:
- Article
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10415-5
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- Publication type:
- Article
Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6417, doi. 10.1093/hmg/ddv352
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- Publication type:
- Article
A novel, de novo intronic variant in POGZ causes White–Sutton syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2198, doi. 10.1002/ajmg.a.62747
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- Publication type:
- Article
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1868, doi. 10.1002/ajmg.a.62704
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- Publication type:
- Article
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232
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- Publication type:
- Article
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2037, doi. 10.1002/ajmg.a.62201
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- Publication type:
- Article
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2789, doi. 10.1002/ajmg.a.38383
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- Publication type:
- Article
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 733, doi. 10.1002/ajmg.a.38059
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- Publication type:
- Article
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1309, doi. 10.1002/ajmg.a.36899
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- Publication type:
- Article
A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 841, doi. 10.1002/ajmg.a.35751
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- Publication type:
- Article
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2557, doi. 10.1002/ajmg.a.35549
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- Publication type:
- Article
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 7, p. e103, doi. 10.1111/epi.16931
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- Publication type:
- Article
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2443
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- Publication type:
- Article
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1397
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- Publication type:
- Article
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
- Published in:
- PLoS Genetics, 2023, v. 19, n. 11, p. 1, doi. 10.1371/journal.pgen.1011005
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- Publication type:
- Article