Results 211 to 220 of about 117,358 (311)

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

Journal of Clinical Laboratory Analysis, EarlyView.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee, Ja‐Hyun Jang, Beom Hee Lee, Hee‐Jeong Youk, Eun Sun Kim, Kee Hyun Cho, Yun Sil Chang, Heui Seung Jo, Mi‐Ae Jang   +8 more
wiley   +1 more source

Congenital Anomaly Statistics, 2012, England and Wales. [PDF]

Budd J, Kurinczuk JJ, Tucker D, Medina J, Draper ES, Morris JK, Springett A, Wreyford B, Rankin J, Wellesley D, Rounding C   +10 more
core  

Decompression sickness type II and patent foramen ovale: when a common congenital anomaly becomes a life-threatening risk. [PDF]

Med Gas Res
Fernandez-Cisneros A.
europepmc   +1 more source

Congenital renal anomalies

Saudi Medical Journal, 2006
Anuj, Mishra, Ehtuish F, Ehtuish
openaire   +2 more sources

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Cor Triatriatum: an uncommon congenital anomaly - the experience of a tertiary care center in a developing country. [PDF]

Front Cardiovasc Med
Abdul Khalek J, El Rassi C, Abou Mansour M, Sleem B, El Rassi I, Bitar F, Arabi M.   +6 more
europepmc   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

Sudden Collapse in a Child Revealing a Malignant Coronary Anomaly: A Case of Congenital Anomaly of Left Coronary Artery Origin. [PDF]

Cureus
Imran A, Carter H, Mensah J, Ahmed M, Solano J.   +4 more
europepmc   +1 more source

Percutaneous Closure of Patent Foramen Ovale in a Patient With Incomplete Cor Triatriatum Sinister: A Case Report

Journal of Clinical Ultrasound, EarlyView.
We present the case of a 55‐year‐old male who experienced a cryptogenic ischemic stroke, likely due to a patent foramen ovale (PFO) in the setting of an incomplete cor triatriatum sinister (CTS) and a 30 mm GORE Cardioform Septal Occluder was successfully implanted.
Anastasios Apostolos, Maria Drakopoulou, Elias Tolis, Georgios Trantalis, Ioannis Kachrimanidis, Panayotis Vlachakis, Konstantinos Tsioufis, Konstantinos Toutouzas, Konstantina Aggeli   +8 more
wiley   +1 more source

Fenestrated membrane of the left atrial appendage orifice; an incidental finding of a rare congenital anomaly. [PDF]

BMC Cardiovasc Disord
Keihanian F, Bigdelu L.
europepmc   +1 more source