Results 11 to 20 of about 133,189 (264)
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report [PDF]
Iranian Journal of Medical Sciences, 2019 Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in
Estephania Candelo +2 more
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Congenital Anomalies of the Atrium
, 2023 This chapter will cover a group of rare congenital anomalies of the atrium that are not discussed in the chapters on atrial septal defects, sinus venosus defects, atrioventricular septal defect (AVSD), and systemic and pulmonary venous anomalies. This group of rare diseases includes atrial wall and atrial appendage aneurysms, atrial diverticula, right ...
Bruyndonckx, Luc, Blom, Nico A.
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BMC Pediatrics, 2020 Background Congenital malformations are described in about 3% of live births and 20% of stillbirths in the industrialized countries. The prevalence of congenital anomalies in developing countries, including Morocco, is not well known at the national ...
K. Forci +5 more
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Journal of Ultrasonography, 2021 Aim of the study: Trisomy 13 is the third most common autosomal trisomy. The following case report shows an atypical case of trisomy 13, highlighting the usefulness of 3D volume storage and reconstruction, and the necessity of careful interpretation of ...
Szymkiewicz-Dangel Joanna +1 more
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Congenital Anomalies of the Nose [PDF]
Facial Plastic Surgery, 2016 Congenital anomalies of the nose range from complete aplasia of the nose to duplications and nasal masses. Nasal development is the result of a complex embryologic patterning and fusion of multiple primordial structures. Loss of signaling proteins or failure of migration or proliferation can result in structural anomalies with significant cosmetic and ...
Funamura, Jamie L, Tollefson, Travis T
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Environment International, 2020 Background: Few studies have investigated congenital anomalies in relation to municipal waste incinerators (MWIs) and results are inconclusive. Objectives: To conduct a national investigation into the risk of congenital anomalies in babies born to ...
Brandon Parkes +11 more
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World Journal of Pediatric Surgery, 2022 Background Congenital anomalies are major causes of morbidity and mortality in children under 5 years of age and make a significant contribution to the surgical burden of diseases. Most anomalies have multifactorial causes and commonly affect the central
Faraja Mussa Magwesela +2 more
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Prenatal Ultrasound Diagnosis and Short-term Outcome of Congenital Malformations: Experience of the Maternity and Reproductive Health Hospital “Les Orangers” - Rabat, Morocco, between 2011-2016 [PDF]
Iranian Journal of NeonatologyBackground: The objective of our study to analyze the data of the prenatal diagnosis of congenital malformations at the maternity and reproductive health hospital "Les Orangers" in Rabat and to identify the main anomalies detected, their percentage and ...
Khenata Forci +4 more
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BMC Public Health, 2022 Background Congenital anomalies are associated with several clinical and epidemiological complications. Following the Zika epidemic onset in Latin America, the incidence of congenital anomalies increased in Brazil.
Fabio Antonio Venancio +8 more
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Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study
Frontiers in Pharmacology, 2022 Background: Orphan drugs are used for the diagnosis, prevention and treatment of rare diseases that, in the European Union, are defined as disorders affecting no more than 5 persons in 10,000.
Francesca Gorini +23 more
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