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1. Comparison of Different Ultrasonic Screening Methods and Analysis of High Risk Factors for Fetal Cardiac Malformation in Second Trimester of Pregnancy NSTL国家科技图书文献中心

Yanming,Wang |  Longfei,Wang... -  《Pediatric cardiology》 - 2025,46(4) - 769~777 - 共9页

摘要: combined with 4D STIC were used to detect fetal cardiac |  malformations and classify cardiac malformations. The |  gestational factors on fetal cardiac malformations by |  45 cases of fetal congenital heart malformation |  malformation screening were higher than those of 2D-CDU or 4D
关键词: Four-dimensional ultrasound |  Spatiotemporal image correlation technique |  Two-dimensional CDU |  Congenital heart malformation |  Second trimester

2. Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus NSTL国家科技图书文献中心

He, Chang |  Grau-Roma, Llorenc... -  《Animal Genetics》 - 2025,56(1) - 共6页

摘要: uncharacterized BRI3 binding protein in cardiac and possibly | Congenital malformations in cattle pose a |  diagnostic challenge with limited treatment options and are |  often associated with a guarded prognosis. The aim of |  this study was to characterize the
关键词: BRI3 binding protein |  cattle |  congenital heart defect |  large animal model |  precision medicine |  ventricular septal defect

3. Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature NSTL国家科技图书文献中心

Ginter, Jacob A. |  Beaudry, Sarah... -  《American journal of medical genetics,Part A》 - 2025,197A(5) - e63969~e63969 - 共8页

摘要: features and congenital cardiac malformation. Chromosomal | , developmental delays, learning difficulties, and cardiac |  role in cardiac development, hypothesize that the | Triplications involving 5q21.3q23.3 are rare | , and a phenotype has not been established. Here, we
关键词: 5q21.3q23.3 |  cardiac malformation |  chromosome insertion |  optical genome mapping |  triplication

4. Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect NSTL国家科技图书文献中心

Gregersen, Pernille ... |  Hammarsjo, Anna... -  《Clinical Genetics》 - 2025,107(1) - 78~82 - 共5页

摘要:The growth and development of the skeleton is |  regulated by bone morphogenetic proteins of which several |  are linked to genetic skeletal disorders. So far, no |  human skeletal malformations have been associated with |  variants in BMP5. Here, we report a patient with
关键词: BMP5 |  cardiac malformation |  rare disease |  skeletal dysostosis |  skeletal dysplasia

5. Postoperative Care of a Paediatric Patient With Common Arterial Trunk Associated With Ventricular Septal Defect and Pulmonary Arterial Hypertension: A Rare Case Report NSTL国家科技图书文献中心

Huimin Fu |  Li Geng... -  《Nursing in critical care.》 - 2025,30(3) - e70048~e70048 - 共6页

摘要: congenital cardiac malformation. This case was associated |  cardiac malformation, and the relevant literature is |  prevent postoperative bleeding; cardiac changes and in |  cardiac oedema and to be alert to cardiac arrhythmia | ABSTRACT Common truncus arteriosus is a rare
关键词: common arterial trunk |  paediatric patient |  postoperative nursing |  pulmonary arterial hypertension |  ventricular septal defect

6. Long-Term Results Following Combined Repair of Atrioventricular Septal Defect with Tetralogy of Fallot NSTL国家科技图书文献中心

Schumacher, Katja |  Marin-Cuartas, Mateo... -  《Pediatric cardiology》 - 2025,46(1) - 134~138 - 共5页

摘要: complex congenital cardiac malformation. We report our | Atrioventricular septal defect (AVSD) in |  association with tetralogy of Fallot (TOF) is a rare and |  institutional experience and outcomes following surgical |  correction over a 20-year period. Patients who underwent
关键词: Atrioventricular septal defect |  Tetralogy of Fallot |  Surgery

7. Near Adult Height and Body Mass Index Changes in Growth Hormone Treated Short Children with Noonan Syndrome: The Belgian Experience NSTL国家科技图书文献中心

De Schepper, Jean |  Thomas, Muriel... -  《Hormone research in p?diatrics》 - 2025,98(2) - 193~205 - 共13页

摘要:, genotype, and the presence of a thoracic or cardiac |  malformation did not correlate with NAH or total height gain |  cardiac and or thoracic anomalies. | Introduction: A variable near adult height |  (NAH) outcome after growth hormone (GH) therapy in
关键词: Noonan syndrome |  Adult height |  Body mass index |  Growth hormone

8. Pulmonary Atresia and Ventricular Septal Defect: Definitions, Nomenclature, and Classification NSTL国家科技图书文献中心

Tchervenkov, Christo... |  Tang, Richard... -  《World journal for pediatric & congenital heart surgery》 - 2025,16(2) - 173~176 - 共4页

摘要: 2021 International Paediatric and Congenital Cardiac |  congenital cardiovascular malformation that is a variant of |  "A congenital cardiovascular malformation that is a |  defect" where the intracardiac malformation is more | )" where the intracardiac malformation is more accurately
关键词: pulmonary atresia |  pulmonary atresia with ventricular septal defect (VSD) |  tetralogy of Fallot |  tetralogy of Fallot with pulmonary atresia, pulmonary atresia with ventricular septal defect

9. An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome NSTL国家科技图书文献中心

Coudert, Alicia |  Thevenon, Julien... -  《American journal of medical genetics,Part A》 - 2025,197A(4) - e63932~e63932 - 共5页

摘要: to cardiac anomalies with skin, teeth, and hair |  candidate variant to explain this malformation, this | Dilated cardiomyopathy (DCM) is a rare disease |  in children and a leading cause of heart failure | . There are numerous causes of DCM including genetic
关键词: anorectal anomaly |  cardiocutaneous syndrome |  dilated cardiomyopathy |  PPP1R13L

10. Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene NSTL国家科技图书文献中心

Muir, Cordelia R. |  Gilmore, Kelly L.... -  《Prenatal Diagnosis》 - 2025,45(2) - 227~230 - 共4页

摘要: identified Chiari malformation but normal renal morphology |  the first day of life due to cardiac decompensation | Objective: To report a case of a fetus with |  multiple congenital anomalies and suspected Barth |  syndrome, highlighting potential phenotypic expansion of
关键词: fetal development |  fetal diseases |  fetal genetic analysis |  fetal imaging |  genetic counseling |  genomics |  prenatal diagnosis |  prenatal ultrasonography |  whole exome sequencing
检索条件cardiac malformation

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