Works matching Trisomy 13 syndrome
Results: 274
A Rare Case of Early‑diagnosed Trisomy 13 Syndrome with Typical Semilobar Holoprosencephaly, Cyclopia, and Proboscis: A Case Report.
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- Journal of Medical Sciences (1011-4564), 2024, v. 44, n. 3, p. 137, doi. 10.4103/jmedsci.jmedsci_120_23
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- Article
Reply to the Letter to the Editor "Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates".
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- Neonatology (16617800), 2022, v. 119, n. 1, p. 135, doi. 10.1159/000520243
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- Article
Trisomy 13: Patau's Syndrome (A Case Report from Jammu Region of Jammu & Kashmir).
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- 2017
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- Case Study
Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates.
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- 2022
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- Letter
ETHICS AND LEGAL ASPECT OF TERMINATION OF PREGNANCY WITH TRISOMY 13 (PATAU SYNDROME).
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- Eduvest: Journal Of Universal Studies, 2023, v. 3, n. 3, p. 552, doi. 10.59188/eduvest.v3i3.769
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- Article
Fiberoptik ile Birleştirilmiş Laringoskop ile Zor Pediyatrik Havayolu Yönetimi: Pierre Robin ve Patau (Trizomi 13) Sendromlu İki Olgu Sunumu.
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- Turkish Journal of Anesthesia & Reanimation, 2014, v. 42, n. 6, p. 358, doi. 10.5152/TJAR.2014.30316
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- Article
Temporal Bone Study of Trisomy 13 Syndrome.
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- Laryngoscope, 2008, v. 118, n. 3, p. 506, doi. 10.1097/MLG.0b013e31815b2176
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- Article
Rare health conditions 32: psychogenic nonepileptic seizures (PNES); pseudocyesis (false pregnancy); trisomy 13 syndrome; and pseudoxanthoma elasticum (PXE)
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- British Journal of Healthcare Assistants, 2020, v. 14, n. 2, p. 74, doi. 10.12968/bjha.2020.14.2.74
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- Article
Patau and Edwards Syndromes in a University Hospital: beyond palliative care.
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- Revista Paulista de Pediatria, 2024, v. 42, p. 1, doi. 10.1590/1984-0462/2024/42/2023053
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- Article
Holoprosencephaly in Patau Syndrome.
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- Revista Paulista de Pediatria, 2023, v. 41, p. 1, doi. 10.1590/1984-0462/2023/41/2022027
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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
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
Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.
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- Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05843-5
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- Article
First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.
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- 2016
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- journal article
Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2015, v. 46, n. 1, p. 60, doi. 10.1002/uog.14655
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- Article
Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation.
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- 2009
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- journal 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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- Article
Akalvarya birlikteliği ile giden Patau sendromu (Trizomi 13): Bir vaka takdimi.
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- Cocuk Sagligi ve Hastaliklari Dergisi, 2021, v. 64, n. 1/2, p. 13
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- Article
Antenatal reflex DNA screening for trisomy 18 and trisomy 13 in addition to Down’s syndrome.
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- Journal of Medical Screening, 2016, v. 23, n. 4, p. 171, doi. 10.1177/0969141315617982
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- Article
Graphical image of Trisomy Ultrascan related Total edge magic labelling.
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- EAI Endorsed Transactions on Pervasive Health & Technology, 2024, v. 10, n. 1, p. 1, doi. 10.4108/eetpht.10.5311
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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
Everyone has a story to tell: The experiences of grandparents with a grandchild diagnosed with a genetic life-limiting condition.
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- International Journal of Birth & Parent Education, 2015, v. 2, n. 3, p. 16
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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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- 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
A IMPORTÂNCIA DOS CUIDADOS PALIATIVOS NO ACOMPANHAMENTO DA CRIANÇA COM SÍNDROME DE PATAU: RELATO DE CASO.
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- Revista Movimenta, 2023, v. 16, n. 2, p. 263
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- Article
Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples.
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- PLoS Computational Biology, 2021, v. 17, n. 12, p. 1, doi. 10.1371/journal.pcbi.1009684
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- Article
Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation.
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- Ultrasound in Obstetrics & Gynecology, 2009, v. 33, n. 5, p. 512, doi. 10.1002/uog.6330
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- Article
Colon Cancer in an Adult with Trisomy 13.
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- 2018
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- Publication type:
- journal article
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
A newborn with trisomy 13 who had tetralogy of Fallot and metopic synostosis: Case report.
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- 2013
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- Case Study
SONOGRAPHIC FINDING OF HORSESHOE KIDNEY LEADING TO DIAGNOSIS OF TRISOMY 13 IN A 16 WEEKS PRIMIGRAVIDA.
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- Indian Obstetrics & Gynaecology, 2023, v. 13, n. 2, p. 16
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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
Sequential integrated antenatal screening for Down’s syndrome, trisomy 18 and trisomy 13.
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- Journal of Medical Screening, 2016, v. 23, n. 3, p. 116, doi. 10.1177/0969141315608895
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- Article
Antenatal screening for Down’s syndrome, trisomy 18, and trisomy 13: Reporting a single screening result for all three.
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- Journal of Medical Screening, 2015, v. 22, n. 2, p. 100, doi. 10.1177/0969141315575545
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- Article
Factors Influencing Outcomes After Cardiac Intervention in Infants with Trisomy 13 and 18.
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- Pediatric Cardiology, 2018, v. 39, n. 1, p. 140, doi. 10.1007/s00246-017-1738-y
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- Article
A Contemporary, Single-Institutional Experience of Surgical Versus Expectant Management of Congenital Heart Disease in Trisomy 13 and 18 Patients.
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- Pediatric Cardiology, 2015, v. 36, n. 5, p. 987, doi. 10.1007/s00246-015-1109-5
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- Article
New osseous soft markers for trisomy 13, 18 and 21.
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- 2016
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- 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
Patau syndrome.
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- Paediatria Croatica, 2016, v. 60, n. 1, p. 27, doi. 10.13112/PC.2016.5
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- Article
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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- Article
A patient with Trisomy 13 mosaicism: review and case report.
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- 2015
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- Conference Paper/Materials
Economic cost of patients with trisomy 13, 18, and 21 in a tertiary hospital in Thailand.
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- PLoS ONE, 2023, v. 18, n. 11, p. 1, doi. 10.1371/journal.pone.0291918
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- Article
Quantitative and qualitative Ductus Venosus blood flow evaluation in the screening for Trisomy 18 and 13 -- suitability study.
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- Ginekologia Polska, 2020, v. 91, n. 3, p. 144, doi. 10.5603/GP.2020.0031
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- Article
Role of Overexpressed Transcription Factor FOXO1 in Fatal Cardiovascular Septal Defects in Patau Syndrome: Molecular and Therapeutic Strategies.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 11, p. 3547, doi. 10.3390/ijms19113547
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- Article
Morbidity and mortality following noncardiac surgical procedures among children with autosomal trisomy.
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- Pediatric Anesthesia, 2022, v. 32, n. 5, p. 631, doi. 10.1111/pan.14415
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- 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
Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13).
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- 2018
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- Publication type:
- Case Study
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
Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma.
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- Application of Clinical Genetics, 2014, v. 7, p. 127, doi. 10.2147/TACG.S35602
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- Article