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Public Knowledge and Attitude towards Down Syndrome in Western Region, Saudi Arabia.
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- Journal of Electrical Systems, 2024, v. 20, p. 12
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- Article
Acute kidney injury in children hospitalised for febrile urinary tract infection.
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- Acta Paediatrica, 2024, v. 113, n. 7, p. 1711, doi. 10.1111/apa.17247
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- Article
Macrodystrophia Lipomatosa: A Rare Case of Ulnar Nerve Territory Involvement.
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- Indian Journal of Radiology & Imaging, 2024, v. 34, n. 3, p. 545, doi. 10.1055/s-0043-1777745
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- Article
A depiction of poliomyelitis in a 17th -century Piedmontese fresco?
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- Neurological Sciences, 2024, v. 45, n. 7, p. 3517, doi. 10.1007/s10072-024-07531-7
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- Article
Ease of sutureless aortic valve replacement in a patient with unexpected ochronosis: a case report.
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- 2024
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- Publication type:
- Case Study
Targeting the conserved active site of splicing machines with specific and selective small molecule modulators.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-48697-0
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- Article
Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.
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- 2024
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- Publication type:
- Case Study
Reconsideration of Maternal Serological Testing for Predicting Congenital CMV Infection.
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- Journal of Infectious Diseases, 2024, v. 229, n. 6, p. 1817, doi. 10.1093/infdis/jiad412
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- Article
Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome.
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- Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01686-y
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- Article
The Musculoskeletal System in Health and Disease: A Multidisciplinary Approach to Find Better Treatments for Musculoskeletal Disease.
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- Malaysian Journal of Medicine & Health Sciences, 2024, v. 20, p. 2
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- Publication type:
- Article
Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.
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- Acta Paediatrica, 2024, v. 113, n. 6, p. 1420, doi. 10.1111/apa.17160
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- Publication type:
- Article
Adverse maternal and neonatal outcomes of preimplantation genetic testing with trophectoderm biopsy: a retrospective cohort study of 3373 intracytoplasmic sperm injection single frozen-thawed blastocyst transfer cycles.
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- Archives of Gynecology & Obstetrics, 2024, v. 309, n. 6, p. 2427, doi. 10.1007/s00404-023-07120-7
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- Article
Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).
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- Archives of Gynecology & Obstetrics, 2024, v. 309, n. 6, p. 2613, doi. 10.1007/s00404-023-07165-8
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- Publication type:
- Article
A photo‐distributed rash and eczematous eruptions in two siblings—A diagnostic conundrum.
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- Australasian Journal of Dermatology, 2024, v. 65, n. 4, p. 402, doi. 10.1111/ajd.14295
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- Article
O13 Benchmarking a human pluripotent stem cell-derived hair-bearing skin organoid model to prenatal skin.
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- British Journal of Dermatology, 2024, v. 190, n. 6, p. e74, doi. 10.1093/bjd/ljae105.013
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- Article
A naturally occurring canine model of syndromic congenital microphthalmia.
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- G3: Genes | Genomes | Genetics, 2024, v. 14, n. 6, p. 1, doi. 10.1093/g3journal/jkae067
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- Article
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
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- Human Genetics, 2024, v. 143, n. 6, p. 739, doi. 10.1007/s00439-024-02677-y
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- Article
Zoonoses Presenting as Head and Neck Swellings.
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- 2024
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- Publication type:
- Letter
Hirschsprung Disease in Jordan: A Review and Status Update.
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- Jordan Medical Journal, 2024, v. 58, n. 2, p. 194, doi. 10.35516/jmj.v58i2.426
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- Publication type:
- Article
Surgical treatment for congenital vertebral anomalies with bilateral bifid intrathoracic rib in association: A series of five cases.
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- Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2024, v. 18, n. 3, p. 331, doi. 10.1177/18632521241232304
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- Publication type:
- Article
Maternal risk factors for congenital vertebral formation and mixed defects: A population-based case–control study.
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- Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2024, v. 18, n. 3, p. 340, doi. 10.1177/18632521241235027
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- Publication type:
- Article
A Brief Review of Varicose Veins in the Upper Limb from an Ayurvedic Perspective.
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- Journal of Clinical & Diagnostic Research, 2024, v. 18, n. 6, p. 1, doi. 10.7860/JCDR/2024/68661.19476
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- Publication type:
- Article
Salt and Pepper Pigmentary Retinopathy in Congenital Rubella Syndrome: A Case Report.
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- Journal of Clinical & Diagnostic Research, 2024, v. 18, n. 6, p. 1, doi. 10.7860/JCDR/2024/67103.19506
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- Publication type:
- Article
What should be next in lifelong posterior hypospadias: Conclusions from the 2023 ERN eUROGEN and EJP‐RD networking meeting.
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- Neurourology & Urodynamics, 2024, v. 43, n. 5, p. 1097, doi. 10.1002/nau.25305
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- Article
Anomalous origin of the coronary artery: prevalence and coronary artery disease in adults undergoing coronary tomographic angiography.
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- BMC Cardiovascular Disorders, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12872-024-03942-8
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- Publication type:
- Article
Understanding the impact of congenital infections and perinatal viral exposures on the developing brain using white matter magnetic resonance imaging: a scoping review.
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- BMC Medical Imaging, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12880-024-01282-9
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- Article
Variceal hemorrhage in a patient with cirrhosis and congenital hemophilia A: A therapeutic challenge.
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- 2024
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- Publication type:
- Case Study
Emergency right lower lobectomy for severe pulmonary abscess in a pregnant woman at the 25th week of gestation: a case report.
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- 2024
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- Publication type:
- Case Study
Spiroplasma infection as a cause of severe congenital keratouveitis, cataract and glaucoma.
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- 2024
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- Publication type:
- Case Study
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc- Man2-GlcNAc2) as a specific diagnostic biomarker.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1363558
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- Article
Characteristics, risk factors, and outcomes related to Zika virus infection during pregnancy in Northeastern Thailand: A prospective pregnancy cohort study, 2018–2020.
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- PLoS Neglected Tropical Diseases, 2024, v. 18, n. 5, p. 1, doi. 10.1371/journal.pntd.0012176
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- Article
A Pilot Comparative Study between Creatinine- and Cystatin-C-Based Equations to Estimate GFR and Kidney Ultrasound Percentiles in Children with Congenital Anomalies of the Kidney and Urinary Tract.
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- Diagnostics (2075-4418), 2024, v. 14, n. 10, p. 994, doi. 10.3390/diagnostics14100994
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- Article
Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.
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- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01857-z
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- Article
Maternal and obstetric outcomes following the transfer of embryos warmed with fatty acid-supplemented solutions.
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- BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-024-06546-4
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- Article
A Rare Case of Association of Jejunal Atresia with Biliary Atresia.
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- 2024
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- Publication type:
- Case Study
Pancreatic congenital anomalies and their features on CT and MR imaging: a pictorial review.
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- Abdominal Radiology, 2024, v. 49, n. 5, p. 1734, doi. 10.1007/s00261-024-04229-4
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- Article
Higher risk of cerebral palsy, seizures/epilepsy, visual‐ and hearing impairments, cancer, injury and child abuse in children with congenital anomalies: Data from the EUROlinkCAT study.
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- Acta Paediatrica, 2024, v. 113, n. 5, p. 1024, doi. 10.1111/apa.17136
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- Publication type:
- Article
Roadmap for Advancing a New Subspecialty in Pulmonary Medicine Devoted to Chronic Respiratory Failure.
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- Annals of the American Thoracic Society, 2024, v. 21, n. 5, p. 692, doi. 10.1513/AnnalsATS.202309-810IP
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- Article
Defying Evolution: Observations of a Mouth-Breathing Bottlenose Dolphin (Tursiops truncatus).
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- Aquatic Mammals, 2024, v. 50, n. 3, p. 230, doi. 10.1578/AM.50.3.2024.230
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- Article
Comparative analysis of surgical treatment modalities for a popliteal pterygium: a meta-analysis.
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- Archives of Orthopaedic & Trauma Surgery, 2024, v. 144, n. 5, p. 2449, doi. 10.1007/s00402-024-05292-8
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- Publication type:
- Article
Recommendations for 46,XX Congenital Adrenal Hyperplasia Across Two Decades: Insights from the North American Differences of Sex Development Clinician Survey.
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- Archives of Sexual Behavior, 2024, v. 53, n. 5, p. 1695, doi. 10.1007/s10508-024-02853-1
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- Publication type:
- Article
Velopharyngeal Characteristics in Aarskog–Scott Syndrome: A Case Report.
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- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 5, p. 892, doi. 10.1177/10556656221141235
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- Article
Hypopigmented white patches in a newborn.
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- Clinical & Experimental Dermatology, 2024, v. 49, n. 5, p. 537, doi. 10.1093/ced/llad448
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- Publication type:
- Article
Should an Incidental Meckel Diverticulum Be Resected? A Systematic Review.
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- Clinical & Experimental Gastroenterology, 2024, v. 17, p. 147, doi. 10.2147/CEG.S460053
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- Article
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis.
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- Congenital Anomalies, 2024, v. 64, n. 3, p. 107, doi. 10.1111/cga.12561
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- Article
SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.
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- Genes, 2024, v. 15, n. 5, p. 529, doi. 10.3390/genes15050529
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- Article
Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.
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- Genes, 2024, v. 15, n. 5, p. 619, doi. 10.3390/genes15050619
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- Publication type:
- Article
Provincial and territorial congenital anomalies surveillance: a summary of surveillance programs across Canada.
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- Health Promotion & Chronic Disease Prevention in Canada, 2024, v. 44, n. 5, p. 229, doi. 10.24095/hpcdp.44.5.04
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- Publication type:
- Article
Cardiopulmonary Rehabilitation along with Inspiratory Muscle Training to Improve Aerobic Capacity in Athletic Patient Following Atrial Septal Defect Closure: A Case Report.
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- Journal of Clinical & Diagnostic Research, 2024, v. 18, n. 5, p. 1, doi. 10.7860/JCDR/2024/68775.19344
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- Publication type:
- Article
Brevundimonas diminuta Infection in a Congenital Atrial Septal Defect Patient: A Case Report.
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- Journal of Clinical & Diagnostic Research, 2024, v. 18, n. 5, p. 1, doi. 10.7860/JCDR/2024/67427.19401
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- Publication type:
- Article