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Postnatal outcome of fetal aberrant right subclavian artery: a single center study.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Primary surgical repair of tetralogy of fallot at the Uganda Heart Institute: a ten-year review of 30day mortality and morbidity.
- Published in:
- BMC Cardiovascular Disorders, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12872-024-03991-z
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- Publication type:
- Article
Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09547-8
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- Publication type:
- Article
In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.
- Published in:
- PLoS ONE, 2024, v. 19, n. 6, p. 1, doi. 10.1371/journal.pone.0298092
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- Publication type:
- Article
De novo start‐loss variant in HIRA in patient with DiGeorge‐like syndrome.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 683, doi. 10.1111/cge.14521
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- Publication type:
- Article
Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 5, p. 569, doi. 10.3390/biom14050569
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- Publication type:
- Article
Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables.
- Published in:
- Genes, 2024, v. 15, n. 5, p. 595, doi. 10.3390/genes15050595
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- Publication type:
- Article
Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2223, doi. 10.3390/jcm13082223
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- Publication type:
- Article
Genetic profile of a large Spanish cohort with hypercalcemia.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1297614
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- Publication type:
- Article
Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion.
- Published in:
- Children, 2024, v. 11, n. 4, p. 489, doi. 10.3390/children11040489
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- Publication type:
- Article
Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 440, doi. 10.3390/genes15040440
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- Publication type:
- Article
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 518, doi. 10.3390/genes15040518
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- Publication type:
- Article
Thalamic contributions to psychosis susceptibility: Evidence from co‐activation patterns accounting for intra‐seed spatial variability (μCAPs).
- Published in:
- Human Brain Mapping, 2024, v. 45, n. 5, p. 1, doi. 10.1002/hbm.26649
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- Publication type:
- Article
22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01686-w
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- Publication type:
- Article
Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome.
- Published in:
- Metabolomics, 2024, v. 20, n. 2, p. 1, doi. 10.1007/s11306-024-02088-0
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- Publication type:
- Article
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.
- Published in:
- Genetics Research, 2024, v. 2024, p. 1, doi. 10.1155/2024/5549592
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- Publication type:
- Article
Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09527-y
- By:
- Publication type:
- Article
The role of long noncoding RNA DGCR5 in cancers: Focus on molecular targets.
- Published in:
- Cell Biochemistry & Function, 2024, v. 42, n. 2, p. 1, doi. 10.1002/cbf.3949
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- Publication type:
- Article
Respiratory Distress and Hypocalcemia in a 2-Week-Old Boy.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 321, doi. 10.3390/genes15030321
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- Publication type:
- Article
Critical Hypoglycemia in a Newborn with Pituitary Stalk Interruption Syndrome in Conjunction with 16p11.2 Deletion Syndrome and Duplication of Xp22.33/Yp11.32.
- Published in:
- Journal of Neonatology, 2024, v. 38, n. 1, p. 153, doi. 10.1177/09732179231172274
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- Publication type:
- Article
Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array.
- Published in:
- Journal of Personalized Medicine, 2024, v. 14, n. 3, p. 290, doi. 10.3390/jpm14030290
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- Publication type:
- Article
22q11.2 Deletion syndrome: What nurses need to know.
- Published in:
- Practice Nursing, 2024, v. 35, n. 3, p. 99, doi. 10.12968/pnur.2024.35.3.99
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- Publication type:
- Article
Assessing Complication Risk of Pressure Equalizing Tube Placement in Children With Velocardiofacial Syndrome (22q11.2 Deletion Syndrome/DiGeorge Syndrome).
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2024, v. 133, n. 2, p. 224, doi. 10.1177/00034894231202063
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- Publication type:
- Article
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 2, p. 211, doi. 10.3390/genes15020211
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- Publication type:
- Article
FTO overexpression inhibits the invasion and migration of rheumatoid arthritis fibroblast‐like synoviocytes by suppressing miR‐126‐5p.
- Published in:
- International Journal of Rheumatic Diseases, 2024, v. 27, n. 2, p. 1, doi. 10.1111/1756-185X.15035
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- Publication type:
- Article
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01607-3
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- Publication type:
- Article
Congenital cytomegalovirus infection in a preterm infant with 22q11.2 deletion syndrome and immunological abnormalities.
- Published in:
- Nagoya Journal of Medical Science, 2024, v. 86, n. 1, p. 149, doi. 10.18999/nagjms.86.1.149
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- Publication type:
- Article
Correspondence to "Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease".
- Published in:
- Pediatric Cardiology, 2024, v. 45, n. 2, p. 454, doi. 10.1007/s00246-023-03368-7
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- Publication type:
- Article
Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2024, v. 103, n. 1, p. 51, doi. 10.1111/aogs.14716
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- Publication type:
- Article
Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.
- Published in:
- Human Brain Mapping, 2024, v. 45, n. 1, p. 1, doi. 10.1002/hbm.26553
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- Publication type:
- Article
Lymphoproliferation, Autoimmunity, and Recurrent Infections: Which Primary Immunodeficiency?
- Published in:
- Turkish Archives of Pediatrics, 2024, v. 59, n. 1, p. 106, doi. 10.5152/TurkArchPediatr.2023.23157
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- Publication type:
- Article
Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 24, p. 7579, doi. 10.3390/jcm12247579
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- Publication type:
- Article
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02980-3
- By:
- Publication type:
- Article
CD45RA+ Depleted Lymphocyte Infusion for Treatment of Refractory Cytomegalovirus Disease in Complete DiGeorge Syndrome: A Case Report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Comparison of Elicitation Approaches in Early Stage HTA Applied on Artificial Thymus for Patients with DiGeorge Syndrome.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 22, p. 3002, doi. 10.3390/healthcare11223002
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- Publication type:
- Article
22 Adaptive Functioning in 22q11.2 Deletion Syndrome Across the Lifespan: Where are the Social Determinants of Health?
- Published in:
- 2023
- By:
- Publication type:
- Abstract
Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02953-6
- By:
- Publication type:
- Article
Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1274056
- By:
- Publication type:
- Article
PGR - 2 Demons In The Mirrors: A Childhood Case Report of 22q11.2 Deletion Syndrome First Addressed By Tele-Neuropsychological Evaluation During The COVID-19 Lockdown.
- Published in:
- Archives of Clinical Neuropsychology, 2023, v. 38, n. 7, p. 1137, doi. 10.1093/arclin/acad067.003
- By:
- Publication type:
- Article
Assessment of the Velopharyngeal Mechanism at Rest and During Speech in Children With 22q11.2DS: A Cross-Sectional Study.
- Published in:
- Cleft Palate Craniofacial Journal, 2023, v. 60, n. 10, p. 1250, doi. 10.1177/10556656221100674
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- Publication type:
- Article
Structural Connectivity and Emotion Recognition Impairment in Children and Adolescents with Chromosome 22q11.2 Deletion Syndrome.
- Published in:
- Journal of Autism & Developmental Disorders, 2023, v. 53, n. 10, p. 4021, doi. 10.1007/s10803-022-05675-z
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- Publication type:
- Article
Suicidal Risk Behaviors in Adolescents With Rare Neurodevelopmental Disorders: The Role of Sex, Autistic Traits, and Mental Health Difficulties.
- Published in:
- Journal of Pediatric Psychology, 2023, v. 48, n. 10, p. 852, doi. 10.1093/jpepsy/jsad051
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- Publication type:
- Article
Sphincter Pharyngoplasty for Velopharyngeal Dysfunction: Impact of 22q11.2 Deletion Syndrome.
- Published in:
- Laryngoscope, 2023, v. 133, n. 10, p. 2813, doi. 10.1002/lary.30579
- By:
- Publication type:
- Article
Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease - case report and literature review.
- Published in:
- Pediatric Endocrinology, Diabetes & Metabolism, 2023, v. 29, n. 4, p. 259, doi. 10.5114/pedm.2023.132030
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- Publication type:
- Article
Subglottic stenosis as an early presentation of DiGeorge Syndrome.
- Published in:
- Polish Otorhinolaryngological Review / Polski Przegląd Otorynolaryngologiczny (Index Copernicus), 2023, v. 12, n. 4, p. 37, doi. 10.5604/01.3001.0053.9850
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- Publication type:
- Article
Abnormal developmental trajectory and vulnerability to cardiac arrhythmias in tetralogy of Fallot with DiGeorge syndrome.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05344-6
- By:
- Publication type:
- Article