Found: 29
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FGF12 copy number variant associated with epileptic encephalopathy.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 114, doi. 10.1111/cge.14542
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- Publication type:
- Article
Managing Gastrointestinal Symptoms Resulting from Treatment with Trofinetide for Rett Syndrome: Caregiver and Nurse Perspectives.
- Published in:
- Advances in Therapy, 2024, v. 41, n. 4, p. 1305, doi. 10.1007/s12325-024-02782-4
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- Publication type:
- Article
Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 607, doi. 10.1111/cge.14408
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- Publication type:
- Article
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 10, p. 1437, doi. 10.3390/cells12101437
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- Publication type:
- Article
GABRG2 Variants Associated with Febrile Seizures.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 414, doi. 10.3390/biom13030414
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- Publication type:
- Article
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 2, p. 167, doi. 10.1111/cge.14248
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- Publication type:
- Article
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3325, doi. 10.1093/hmg/ddac114
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- Publication type:
- Article
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 2, p. 1, doi. 10.1002/mgg3.1857
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- Publication type:
- Article
Improved methods for RNAseq-based alternative splicing analysis.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89938-2
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- Publication type:
- Article
The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome.
- Published in:
- Human Mutation, 2020, v. 41, n. 10, p. 1738, doi. 10.1002/humu.24075
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- Publication type:
- Article
Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17105-8
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- Publication type:
- Article
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1263, doi. 10.1002/humu.24015
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- Publication type:
- Article
Primrose syndrome: Characterization of the phenotype in 42 patients.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 890, doi. 10.1111/cge.13749
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- Publication type:
- Article
Front Cover, Volume 41, Issue 2.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. i, doi. 10.1002/humu.23982
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- Publication type:
- Article
Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 412, doi. 10.1002/humu.23939
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- Publication type:
- Article
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
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- Publication type:
- Article
Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 2, p. 183, doi. 10.1111/cge.13580
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- Publication type:
- Article
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2623, doi. 10.1002/ajmg.a.40493
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- Publication type:
- Article
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2259, doi. 10.1002/ajmg.a.40472
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- Publication type:
- Article
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1549, doi. 10.1002/ajmg.a.38712
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- Publication type:
- Article
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
- Published in:
- 2017
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- Publication type:
- journal article
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.
- Published in:
- 2016
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- Publication type:
- case study
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131797
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- Publication type:
- Article
Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113036
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- Publication type:
- Article
Autism and Increased Paternal Age Related Changes in Global Levels of Gene Expression Regulation.
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016715
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- Publication type:
- Article
Variation in the Large-Scale Organization of Gene Expression Levels in the Hippocampus Relates to Stable Epigenetic Variability in Behavior.
- Published in:
- PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003344
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- Publication type:
- Article
Cyclooxygenase-2 inhibitors in human skeletal fracture healing.
- Published in:
- 2006
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- Publication type:
- journal article
Cyclooxygenase-2 Inhibitors in Human Skeletal Fracture Healing.
- Published in:
- Orthopedics, 2006, v. 29, n. 3, p. 259
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- Publication type:
- Article