Works matching DE "TRISOMY 13 syndrome"
Results: 111
Mosaic trisomy 13 and constitutional delay in puberty.
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- Oxford Medical Case Reports, 2022, v. 2022, n. 5, p. 1, doi. 10.1093/omcr/omac046
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- Article
Accuracy of cell‐free fetal DNA in detecting chromosomal anomalies in women experiencing miscarriage: systematic review and meta‐analysis.
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- Ultrasound in Obstetrics & Gynecology, 2025, v. 65, n. 1, p. 13, doi. 10.1002/uog.29131
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- Article
EP06.64: Megacystis: do we already know everything?
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 164, doi. 10.1002/uog.28235
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- Article
EP06.19: Prenatal diagnosis of Bardet‐Biedl Syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 152, doi. 10.1002/uog.28192
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- Publication type:
- Article
IONA test for first-trimester detection of trisomies 21, 18 and 13.
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- 2016
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- Publication type:
- journal article
False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13.
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- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/7397405
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- Publication type:
- Article
Bacterial Sepsis among Children with Congenital Heart Disease in Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia.
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- Ethiopian Journal of Health Sciences, 2022, v. 32, n. 3, p. 523, doi. 10.4314/ejhs.v32i3.7
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- Article
Cochlear Implantation in a Child with Patau Syndrome.
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- Journal of International Advanced Otology, 2022, v. 18, n. 6, p. 541, doi. 10.5152/iao.2022.20074
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- Article
Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort.
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- Archives of Gynecology & Obstetrics, 2024, v. 309, n. 5, p. 1971, doi. 10.1007/s00404-023-07084-8
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- Article
Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.
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- Journal of Clinical Medicine, 2024, v. 13, n. 16, p. 4804, doi. 10.3390/jcm13164804
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- Article
Future Perspectives in Oxidative Stress in Trisomy 13 and 18 Evaluation.
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- Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1787, doi. 10.3390/jcm11071787
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- Article
A Deep-Learning-Based Method Can Detect Both Common and Rare Genetic Disorders in Fetal Ultrasound.
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- Biomedicines, 2023, v. 11, n. 6, p. 1756, doi. 10.3390/biomedicines11061756
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- Article
Does a High-Risk (>1/50) Result for First-Trimester Combined Screening Always Entail Invasive Testing? Which Patients from This Group Might Benefit from cfDNA Testing?
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- Biomedicines, 2022, v. 10, n. 10, p. N.PAG, doi. 10.3390/biomedicines10102579
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- Publication type:
- Article
Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report.
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- 2016
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- Publication type:
- Case Study
Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature.
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- 2022
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- Publication type:
- Case Study
Milder and Later Presentation of Trisomy 13: A Case Report and Literature Review.
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- Journal of the Anatomical Society of India, 2022, v. 71, n. 4, p. 321, doi. 10.4103/jasi.jasi_149_21
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- Article
COVID-19 in a mosaic trisomy 13 patient with polycystic kidney disease.
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- SAGE Open Medical Case Reports, 2022, v. 10, p. 1, doi. 10.1177/2050313X221118732
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- Article
COVID-19 in a mosaic trisomy 13 patient with polycystic kidney disease.
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- SAGE Open Medical Case Reports, 2022, v. 10, p. 1, doi. 10.1177/2050313X221118732
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- Publication type:
- Article
Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.
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- Malaysian Journal of Pathology, 2022, v. 44, n. 2, p. 235
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- Article
Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions.
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- Diagnostics (2075-4418), 2023, v. 13, n. 15, p. 2570, doi. 10.3390/diagnostics13152570
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- Article
Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.
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- Diagnostics (2075-4418), 2022, v. 12, n. 10, p. 2439, doi. 10.3390/diagnostics12102439
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- Article
HOW TO COMMUNICATE WITH A SPEECH IMPAIRED PERSON? A CASE STUDY OF A SUBJECT WITH MOSAIC PATAU SYNDROME.
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- 2014
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- Publication type:
- Case Study
A Decade of Non-Invasive Prenatal Testing (NIPT) for Chromosomal Abnormalities in Croatia: First National Monocentric Study to Inform Country's Future Prenatal Care Strategy.
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- Genes, 2024, v. 15, n. 12, p. 1590, doi. 10.3390/genes15121590
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- Article
Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain.
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- Genes, 2024, v. 15, n. 5, p. 568, doi. 10.3390/genes15050568
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- Publication type:
- Article
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
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- Genes, 2022, v. 13, n. 11, p. 2027, doi. 10.3390/genes13112027
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- Article
Prenatal Sonographic Features of Rare Chromosome 13 Aberrations.
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- Application of Clinical Genetics, 2022, v. 15, p. 145, doi. 10.2147/TACG.S370163
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- Article
EVALUATION OF TRISOMY 21 RISK WITH DOUBLE AND TRIPLE SCREEN TESTS: A CASE REPORT.
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- 2023
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- Publication type:
- Case Study
Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations.
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- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01131-6
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- Article
Incidence, types and outcomes of congenital anomalies in babies born at a public, tertiary hospital in South Africa.
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- South African Journal of Child Health, 2021, v. 15, n. 4, p. 193, doi. 10.7196/SAJCH.2021.v15i4.1810
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- Publication type:
- Article
"She was finally mine": the moral experience of families in the context of trisomy 13 and 18– a scoping review with thematic analysis.
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- BMC Medical Ethics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12910-023-00994-x
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- Article
Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies.
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- 2023
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- Publication type:
- Case Study
Fetal Megacystis: Associated Structural Abnormalities and Obstetric Outcomes.
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- Fetal & Pediatric Pathology, 2023, v. 42, n. 3, p. 394, doi. 10.1080/15513815.2022.2158052
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- Article
Dinosaur Tail Appendix in Trisomy 13.
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- 2022
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- Publication type:
- Case Study
Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development.
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- 2017
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- Publication type:
- Case Study
Infant with trisomy 13 who developed acute elevation of intraocular pressure and glaucoma.
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- Congenital Anomalies, 2020, v. 60, n. 5, p. 151, doi. 10.1111/cga.12367
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- Publication type:
- Article
Trisomy 13 with prenatally diagnosed congenital cystic adenomatoid malformation and hernia of the umbilical cord: A case report.
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- 2017
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- Publication type:
- journal article
Long-term survival of full trisomy 13 in a 14 year old male: a case report.
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- 2016
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- Publication type:
- Case Study
Treatment with mild brain hypothermia for cardiopulmonary resuscitation after myoclonic seizures in infant with robertsonian type of trisomy 13.
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- European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 15, p. 2852
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- Article
High‐flow nasal cannula oxygen therapy for respiratory management after postoperative re‐intubation/re‐extubation in patients with trisomy 18 and trisomy 13: Two case reports.
- Published in:
- 2023
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- Publication type:
- Case Study
Rare association of trisomy 13 with ectrodactyly and congenital diaphragmatic hernia.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 5, p. 1, doi. 10.1002/ccr3.4264
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- Publication type:
- Article
Rare presentation of ectrodactyly in trisomy 13.
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- Journal of Clinical Neonatology, 2020, v. 9, n. 2, p. 143, doi. 10.4103/jcn.JCN_130_16
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- Publication type:
- Article
Variety of neuropsychiatric symptoms in a 4-year old girl suffering from Patau Syndrome with translocation.
- Published in:
- 2015
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- Publication type:
- Case Study
CLINICAL EVALUATION OF NON-INVASIVE PRENATAL SCREENING IN 32,394 PREGNANCIES FROM CHANGZHI MATERNAL AND CHILD HEALTH CARE HOSPITAL OF SHANXI CHINA.
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- Journal of Medical Biochemistry, 2022, v. 41, n. 3, p. 341, doi. 10.5937/jomb0-33513
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- Article
CORRECTION.
- Published in:
- 2017
- Publication type:
- Correction Notice
Survival and Surgical Interventions for Children With Trisomy 13 and 18.
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- 2016
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- Publication type:
- journal article
Trisomy 13 and 18--Treatment Decisions in a Stable Gray Zone.
- Published in:
- 2016
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- Publication type:
- commentary
THE MOST COMMON HUMAN AUTOSOMAL TRISOMIES.
- Published in:
- Studia Universitatis Babeş-Bolyai, Biologia, 2014, v. 59, n. 2, p. 123
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- Publication type:
- Article
The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0407-z
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- Publication type:
- Article
Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects.
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- Journal of Genetics, 2014, v. 93, p. 18, doi. 10.1007/s12041-012-0132-z
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- Publication type:
- Article
Cross-sectional study of epidemiology of congenital anomaly of the hand in a tertiary care centre in India over 1 year.
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- Indian Journal of Plastic Surgery, 2016, v. 49, n. 3, p. 424, doi. 10.4103/0970-0358.197231
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- Publication type:
- Article