Results 221 to 230 of about 1,899,712 (390)

Unusual Condition of Choroid (? Congenital) [PDF]

, 1917
Harold Geimsdale
openalex   +1 more source

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski, Riley Kessler, Precilla D'Souza, Lynne Wolfe, Jean M. Johnson, Tyra Estwick, John Yang, Paul R. Lee, Jennifer Murphy, Camilo Toro, Thomas Markello, Dennis Carter, David R. Adams, William A. Gahl, Cynthia J. Tifft   +19 more
wiley   +1 more source

Clinical outcomes in neonates with congenital heart disease with concurrent congenital neurological anomalies. [PDF]

BMC Pediatr
Torabyan Z, El-Rahi H, Cong CY, Coll AC, Ghimire LV.   +4 more
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Microalbuminuria in children with cyanotic congenital heart disease in Enugu, Nigeria; a comparative study. [PDF]

BMC Nephrol
Agomuo SA, Chinawa JM, Ujunwa FA, Anarado CF, Nnajekwu UC, Adiele DK, Okosi VC, Chukwu E, Okafor HU.   +8 more
europepmc   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Grade IV hiatal hernia in a neonate: A radiologic mimic of congenital diaphragmatic hernia. [PDF]

Radiol Case Rep
Taher RA, Kiswani SA, Na'seh MA, Banihani HA, Sawafta O, Awashra A, Rajab I, Othman R.   +7 more
europepmc   +1 more source

THE SURGICAL TREATMENT OF THE CONGENITAL MALFORMATIONS IMPLICATING THE DISTAL SPINAL CORD

, 1943
Jefferson Browder
openalex   +2 more sources

Congenital Heart Disease without Murmur, and with a Family History of Congenital Cyanosis [PDF]

, 1911
Fabian Weber
openalex   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source