Results 241 to 250 of about 115,582 (346)

The diagnostic value of ultra-microangiography for biliary atresia. [PDF]

Quant Imaging Med Surg
Deng L, Qi X, Wang G, Wang L, Liu S.
europepmc   +1 more source

Œsophageal Atresia in a Cretin [PDF]

, 1969
James Lister
openalex   +1 more source

Oocyte transcriptomes and follicular fluid proteomics of ovine atretic follicles reveal the underlying mechanisms of oocyte degeneration. [PDF]

BMC Genomics
Song Y, Hai E, Zhang N, Zhang Y, Wang J, Han X, Zhang J.   +6 more
europepmc   +1 more source

The Healthcare Needs of Children With Down Syndrome in the First Year of Life: An Analysis of the EUROlinkCAT Data Linkage Study

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Globally, Down syndrome is the most common chromosomal anomaly, often co‐occurring with cardiac or gastrointestinal anomalies. There is a lack of robust data on specific healthcare needs of children with Down syndrome compared to children with other major congenital anomalies.
Sarah E. Seaton, Judith Rankin, Clara Cavero‐Carbonell, Ester Garne, Mika Gissler, Maria Loane, Amanda J. Neville, Michele Santoro, Joachim Tan, David Tucker, Joan K. Morris   +10 more
wiley   +1 more source

Prolonged postnatal adaptation and enhanced prevalence of congenital heart diseases due to altitude may contribute to newborn mortality in Bolivia

Experimental Physiology, EarlyView.
Abstract Highland populations suffer from significant infant mortality due to chronic ambient hypoxia, which increases the risk of congenital heart disease (CHD) and neonatal pulmonary hypertension. Neither the prevalence of these conditions nor the effectiveness of neonatal cardiac screening to identify CHD or pulmonary hypertension among neonates ...
Alexandra Heath, Inge von Alvensleben, Jesús Ardiles Spielvogel, Pablo Freudenthal, Johannes Trapp, Ivanna Noya, Miguel Gálvez, Fanny Mendizábal, Mariana Gonzales, Ceylan Apaza, Leibniz Sanga, Erin Mc Cann, Colleen G. Julian   +12 more
wiley   +1 more source

Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges. [PDF]

Einstein (Sao Paulo)
Cerqueira BP, Milhomem EA, Matos ACC, Pietrobom IG, Leprevost CM, Heilberg IP.   +5 more
europepmc   +1 more source

A Little Known but Very Common Phenotype in Patients With Severe Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian Insufficiency

Pediatric Blood &Cancer, Volume 72, Issue 5, May 2025.
ABSTRACT Background Autosomal recessive severe congenital neutropenia (SCN) has been associated with homozygous variants in the HAX1 gene. The aim of this cross‐sectional study was to evaluate the gonadal function and pubertal development in pediatric patients with SCN due to HAX1 gene variant (HAX1‐SCN).
Deniz Özalp Kızılay, Deniz Yılmaz Karapınar, Nihal Karadaş, Murat Karaoğlan, Sinan Akbayram, Damla Gökşen, Ayşe Gadashova, Serpil Albayrak, Esra Pekpak Şahinoğlu, Zerrin Orbak, Zafer Bıçakçı, Leyla Akın, Canan Albayrak, Cansu Koç, Ayşegül Ünüvar, Ahmet Anık, Yusuf Ziya Aral, Emine Ayça Cimbek, Ayşenur Bahadır, Cem Mete, Samim Özen   +20 more
wiley   +1 more source

Unravelling a pediatric enigma: coexisting retroesophageal right subclavian artery and congenital colonic stenosis masquerading as cow's milk protein allergy and ileus in a neonate. [PDF]

BMC Pediatr
Trerattanavong P, Chaweeborisuit P, Tankruad S, Hataimala A, Limsuksrikul B, Laemad P, Kittichayathon K, Thintharua P, Meemon K, Suriyonplengsaeng C.   +9 more
europepmc   +1 more source

Prenatal diagnosis mediates the relationship between disease complexity and intervention timing for congenital heart defects

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract Introduction Previous studies comparing timing of postnatal intervention among patients with prenatal versus postnatal diagnosis of a congenital heart defect (CHD) have yielded conflicting results due to challenges in controlling for CHD complexity.
Joyce L. Woo, Nina Gotteiner, Brett R. Anderson, Lynn M. Yee, William A. Grobman, Matthew M. Davis, Christina Laternser   +6 more
wiley   +1 more source

Retrospective analysis of early neurodevelopmental outcomes after esophageal atresia repair at a single institution: <i>short-gap</i> vs. <i>long-gap</i> defect. [PDF]

Front Pediatr
Lowdermilk MM, Evanovich DM, Wang JT, Pier DB, Sadhwani A, Zendejas B, Bajic D.   +6 more
europepmc   +1 more source