Found: 25
Select item for more details and to access through your institution.
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 327, doi. 10.1159/000516606
- By:
- Publication type:
- Article
PHF21A Related Disorder: Description of a New Case.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 16130, doi. 10.3390/ijms232416130
- By:
- Publication type:
- Article
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 10, p. 1293, doi. 10.3390/brainsci11101293
- By:
- Publication type:
- Article
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
- Published in:
- Biomedicines, 2022, v. 10, n. 9, p. 2276, doi. 10.3390/biomedicines10092276
- By:
- Publication type:
- Article
GRIN2A: involvement in movement disorders and intellectual disability without seizures.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Left Heart Pump-Assisted Myocardial Revascularization Favorably Affects Neutrophil Apoptosis.
- Published in:
- World Journal of Surgery, 2010, v. 34, n. 4, p. 652, doi. 10.1007/s00268-009-0321-y
- By:
- Publication type:
- Article
Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset.
- Published in:
- Journal of Genetics, 2020, v. 99, n. 1, p. 1, doi. 10.1007/s12041-020-01198-7
- By:
- Publication type:
- Article
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis.
- Published in:
- Journal of Genetics, 2018, v. 97, n. 5, p. 1469, doi. 10.1007/s12041-018-1038-1
- By:
- Publication type:
- Article
Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9171, doi. 10.3390/ijms23169171
- By:
- Publication type:
- Article
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1923, doi. 10.1002/ajmg.a.36570
- By:
- Publication type:
- Article
Biliverdin Protects against Liver Ischemia Reperfusion Injury in Swine.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069972
- By:
- Publication type:
- Article
Implementation of Sample Pooling Procedure Using a Rapid SARS-CoV-2 Diagnostic Real-Time PCR Test Performed Prior to Hospital Admission of People with Intellectual Disabilities.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 17, p. 9317, doi. 10.3390/ijerph18179317
- By:
- Publication type:
- Article
EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study.
- Published in:
- Journal of Autism & Developmental Disorders, 2019, v. 49, n. 6, p. 2337, doi. 10.1007/s10803-019-03908-2
- By:
- Publication type:
- Article
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders.
- Published in:
- Current Issues in Molecular Biology, 2024, v. 46, n. 7, p. 6407, doi. 10.3390/cimb46070383
- By:
- Publication type:
- Article
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder.
- Published in:
- NeuroMolecular Medicine, 2023, v. 25, n. 4, p. 650, doi. 10.1007/s12017-023-08759-w
- By:
- Publication type:
- Article
Carbon monoxide improves cardiac energetics and safeguards the heart during reperfusion after cardiopulmonary bypass in pigs.
- Published in:
- FASEB Journal, 2004, v. 18, n. 10, p. 1093, doi. 10.1096/fj.03-0996fje
- By:
- Publication type:
- Article
Central Venous Stenosis after Hemodialysis: Case Reports and Relationships to Catheters and Cardiac Implantable Devices.
- Published in:
- CardioRenal Medicine, 2019, v. 9, n. 3, p. 135, doi. 10.1159/000496065
- By:
- Publication type:
- Article
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.
- Published in:
- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-4
- By:
- Publication type:
- Article
PLEKHG1 : New Potential Candidate Gene for Periventricular White Matter Abnormalities.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1096, doi. 10.3390/genes15081096
- By:
- Publication type:
- Article
Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1056, doi. 10.3390/genes15081056
- By:
- Publication type:
- Article
UNC5C : Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 306, doi. 10.3390/genes15030306
- By:
- Publication type:
- Article
Impact of daytime routine modifications on people with severe intellectual disability amid COVID‐19 pandemic.
- Published in:
- Perspectives in Psychiatric Care, 2021, v. 57, n. 3, p. 1536, doi. 10.1111/ppc.12696
- By:
- Publication type:
- Article
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families.
- Published in:
- Medicina (1010660X), 2023, v. 59, n. 8, p. 1503, doi. 10.3390/medicina59081503
- By:
- Publication type:
- Article
Complications of Native Arteriovenous Fistula: The Role of Color Doppler Ultrasonography.
- Published in:
- Therapeutic Apheresis & Dialysis, 2014, v. 18, n. 2, p. 155, doi. 10.1111/1744-9987.12073
- By:
- Publication type:
- Article