Works matching DiGeorge syndrome and genetics
Results: 63
Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome.
- Published in:
- 2009
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- Publication type:
- Case Study
Is the genetic basis of DiGeorge syndrome in HAND?
- Published in:
- Nature Genetics, 1999, v. 21, n. 3, p. 246, doi. 10.1038/6750
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- Publication type:
- Article
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome.
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- Journal of Developmental Biology, 2022, v. 10, n. 2, p. 18, doi. 10.3390/jdb10020018
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- Publication type:
- Article
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
- Published in:
- 2015
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- Publication type:
- Case Study
DiGeorge syndrome: the use of model organisms to dissect complex genetics.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 20, p. 2363, doi. 10.1093/hmg/11.20.2363
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- Publication type:
- Article
Preimplantation genetic diagnosis of DiGeorge syndrome.
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- Molecular Human Reproduction, 1998, v. 4, n. 9, doi. 10.1093/molehr/4.9.871
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- Publication type:
- Article
Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).
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- Current Allergy & Asthma Reports, 2018, v. 18, n. 12, p. 1, doi. 10.1007/s11882-018-0823-5
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- Publication type:
- Article
An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.
- Published in:
- Scientific Reports, 2017, p. 40031, doi. 10.1038/srep40031
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- Publication type:
- Article
Integrating TREC/KREC assay and cytokines in the evaluation of the immune status of patients with DiGeorge syndrome.
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- New Zealand Journal of Medical Laboratory Science, 2025, v. 79, n. 1, p. 17
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- Publication type:
- Article
Ultrasound Screening in the First and Second Trimester of Pregnancy for the Detection of Fetal Cardiac Anomalies in a Low-Risk Population.
- Published in:
- Diagnostics (2075-4418), 2025, v. 15, n. 6, p. 769, doi. 10.3390/diagnostics15060769
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- Publication type:
- Article
Chromosomal Abnormalities Affect the Surgical Outcome in Infants with Hypoplastic Left Heart Syndrome: A Large Cohort Analysis.
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- Pediatric Cardiology, 2018, v. 39, n. 1, p. 11, doi. 10.1007/s00246-017-1717-3
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- Publication type:
- Article
Crossed Pulmonary Arteries: A Report on 20 Cases With an Emphasis on the Clinical Features and the Genetic and Cardiac Abnormalities.
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- Pediatric Cardiology, 2013, v. 34, n. 8, p. 1785, doi. 10.1007/s00246-013-0714-4
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- Publication type:
- Article
Prenatal-screening companies expand scope of DNA tests.
- Published in:
- Nature, 2014, v. 507, n. 7490, p. 19, doi. 10.1038/507019a
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- Publication type:
- Article
Tetralogy of Fallot With Absent Pulmonary Valve Syndrome: The Experience of a Tertiary Care Center in a Developing Country.
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- Echocardiography, 2024, v. 41, n. 10, p. 1, doi. 10.1111/echo.15942
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- Publication type:
- Article
Genetik Durum Varlığı ile Konjenital Kalp Hastalıkları Birlikteliği: Cerrahi Sonuçlar Nasıl Etkilenir?
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- Journal of Harran University Medical Faculty / Harran Üniversitesi Tıp Fakültesi Dergisi, 2019, v. 16, n. 1, p. 63
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- Publication type:
- Article
Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 4242, doi. 10.3390/ijms24044242
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- Publication type:
- Article
DiGeorge syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Factori de risc pentru pierderea auzului la nou-născut.
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- ORL.ro, 2022, n. 57, p. 28
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- Publication type:
- Article
The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report.
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- Application of Clinical Genetics, 2021, v. 14, p. 267, doi. 10.2147/TACG.S280066
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- Publication type:
- Article
DiGeorge syndrome breakpoint.
- Published in:
- 1995
- Publication type:
- Book Review
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
Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up.
- Published in:
- Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1209577
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- Publication type:
- Article
Genetic Counseling in Psychiatry: Preparing for Anticipated Demand.
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- Psychiatric Times, 2006, v. 23, n. 14, p. 87
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- Publication type:
- Article
Attentional functioning in individuals with 22q11 deletion syndrome: insight from ERPs.
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- Journal of Neural Transmission, 2018, v. 125, n. 7, p. 1043, doi. 10.1007/s00702-018-1873-5
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- Publication type:
- Article
A Rare Case of Unilateral Congenital Asymmetric Crying Facies in a Neonate: Case Report.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 2, p. 1003, doi. 10.1007/s12070-024-05230-5
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- Publication type:
- Article
VP29.05: The importance of association hypoplastic thymus with aortic arch anomaly.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 218, doi. 10.1002/uog.24446
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- Publication type:
- Article
Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2010.5
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- Publication type:
- Article
Interrupted aortic arch – case report.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2022, v. 71, n. 2, p. 96, doi. 10.37897/RJP.2022.2.5
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- Publication type:
- Article
Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation in an adolescent with the constitutional 22q11.2 deletion syndrome.
- Published in:
- 2011
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- Publication type:
- Report
Various Psychiatric Manifestation in DiGeorge Syndrome (22q11.2 Deletion Syndrome): A Case Report.
- Published in:
- Clinical Psychopharmacology & Neuroscience, 2020, v. 18, n. 3, p. 458, doi. 10.9758/cpn.2020.18.3.458
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- Publication type:
- Article
Vzácný případ DiGeorgeova syndromu s anomáliemi končetin: přínos vyšetření metodou SNP microarrayí?
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2015, v. 70, n. 5, p. 293
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- Publication type:
- Article
De novo start‐loss variant in HIRA in patient with DiGeorge‐like syndrome.
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- Clinical Genetics, 2024, v. 105, n. 6, p. 683, doi. 10.1111/cge.14521
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- Publication type:
- Article
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
- Published in:
- Clinical Genetics, 2004, v. 66, n. 2, p. 128, doi. 10.1111/j.1399-0004.2004.00290.x
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- Publication type:
- Article
Complement Activation in 22q11.2 Deletion Syndrome.
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- Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 515, doi. 10.1007/s10875-020-00766-x
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- Publication type:
- Article
Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood—a case report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
A-053 Importance of Neuropsychological Assessment in a Patient with DiGeorge Syndrome.
- Published in:
- 2020
- Publication type:
- Abstract
Absence of the vagus nerve in the stomach of Tbx1.
- Published in:
- Neurogastroenterology & Motility, 2011, v. 23, n. 2, p. 125, doi. 10.1111/j.1365-2982.2010.01615.x
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- Publication type:
- Article
Digeorge Syndrome - Chromosome 22q1l Deletion Syndrome: An Update and Review.
- Published in:
- International Journal of Nursing Education, 2019, v. 11, n. 1, p. 30, doi. 10.5958/0974-9357.2019.00008.4
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- Publication type:
- Article
Digeorge syndrome, schizophrenia, intellectual disability and borderline personality disorder: A case report.
- Published in:
- Clinical Medicine Insights: Psychiatry, 2023, p. 1, doi. 10.1177/11795573231168518
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- Publication type:
- Article
Digeorge syndrome, schizophrenia, intellectual disability and borderline personality disorder: A case report.
- Published in:
- Clinical Medicine Insights: Psychiatry, 2023, v. 14, p. 1, doi. 10.1177/11795573231168518
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- Publication type:
- Article
De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome.
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- Cytogenetic & Genome Research, 2019, v. 157, n. 4, p. 32, doi. 10.1159/000497173
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- Publication type:
- Article
Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.
- Published in:
- Cytogenetic & Genome Research, 2018, v. 154, n. 1, p. 20, doi. 10.1159/000487094
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- Publication type:
- Article
Hermes.
- Published in:
- 2020
- Publication type:
- Journal Article
Genome-Wide Association Mapping and Identification of Candidate Genes for the Rumpless and Ear-tufted Traits of the Araucana Chicken.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040974
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- Publication type:
- Article
Drug-induced parkinsonism in a patient with DiGeorge syndrome: a case report.
- Published in:
- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1483587
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- Publication type:
- Article
Human genetics: An accomplice, by (Di)George!
- Published in:
- Nature Reviews Genetics, 2003, v. 4, n. 3, p. 167, doi. 10.1038/nrg1028
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- Publication type:
- Article
Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects.
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- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.655354
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- Publication type:
- Article
Abstract 3: Picking up DiGeorge syndrome in Hypoparathyroidism: A hit-and-miss "thumbing" diagnosis.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2022, v. 26, p. 1, doi. 10.4103/2230-8210.363715
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- Publication type:
- Article
news and views in brief.
- Published in:
- Nature, 2004, v. 427, n. 6975, p. 599, doi. 10.1038/427599a
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- Publication type:
- Article