Results 91 to 100 of about 402,747 (185)

Whirl Pattern Complex Gastroschisis [PDF]

open access: yesIranian Journal of Neonatology
Background: Complex gastroschisis is a rare variant characterized by intrauterine closure of the abdominal defect, which can be accompanied by atresia, necrosis, and, in most cases, lead to short bowel syndrome.
Andrés Felipe Rubio Duarte   +2 more
doaj   +1 more source

Hypermanganesemia in Children With Liver and Portosystemic Circulation Disorders: A Systematic Review

open access: yesJournal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim Children with chronic liver disease and portosystemic circulation disorders may have long‐term neurocognitive problems. Hypermanganesemia, reported in this group, could be a contributor. This systematic review aimed to characterise liver and portosystemic circulation disorders associated with hypermanganesemia and reported neurocognitive ...
Helena J. Kim   +6 more
wiley   +1 more source

Clinical and operative approach of intestinal atresia calves

open access: yes, 2015
Dünyanın birçok bölgesinde, ruminantlarda kongenital anomalilerle karşılaşıldığı çeşitli araştırıcılar tarafından bildirilmiştir. 2005-2014 yılları arasında kliniğimize kabul edilen 43 buzağıda intestinal atresia’lar gözlenmiş ve çalışmaya dahil edilen ...
Göksel, Berk Alp
core   +1 more source

Clinical Significance of Organ Preservation Fluid Cultures in Pediatric Abdominal Solid Organ Transplantation

open access: yesTransplant Infectious Disease, EarlyView.
In this pediatric abdominal solid organ transplant cohort, preservation fluid‐related infections were rare but occurred in infant liver transplant recipients whose preservation fluid cultures grew pathogenic organisms. These findings suggest that routine bacterial preservation fluid cultures may be most useful for identifying clinically significant ...
Hassan A. Jamal   +5 more
wiley   +1 more source

Jejunal atresia associated with idiopathic ileal perforation

open access: yesJournal of Indian Association of Pediatric Surgeons, 2008
Jejunoileal atresia is one of the common causes of neonatal intestinal obstruction. Intestinal perforation with meconium peritonitis in the neonatal period, which carries a high mortality rate, is also common.
Das P, Rai Rakesh, Lobo Grover
doaj  

Benchmarking commercial large language models for gene–disease–phenotype extraction from full‐text human genetics literature

open access: yesQuantitative Biology, Volume 14, Issue 4, December 2026.
Abstract Manual curation of gene–disease–phenotype relationships from the human genetics literature is a persistent bottleneck for maintaining its bioinformatics databases. Whereas large language models (LLMs) offer a promising alternative, there is currently no systematic benchmark that evaluates whether state‐of‐the‐art commercial LLMs can perform ...
Danqing Yin   +6 more
wiley   +1 more source

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

open access: yesClinical Genetics, Volume 110, Issue 5, Page 574-583, November 2026.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho   +23 more
wiley   +1 more source

Weighted Single‐Step GWAS Reveals Genetic Mechanisms Underlying Pregnancy Loss in Early Nellore Heifers

open access: yesAnimal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT Pregnancy loss (PL) affects reproductive efficiency in beef cattle, yet its genetic architecture remains poorly understood in Bos indicus populations. Here, PL was defined as failure from pregnancy diagnosis to calving, capturing a window approximately 60 days after the breeding season.
Flávia C. Bis   +6 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Case‐malformed signal detection and prioritisation using EUROmediCAT data for pharmacovigilance in pregnancy

open access: yesBritish Journal of Clinical Pharmacology, Volume 92, Issue 10, Page 3586-3597, October 2026.
Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson   +22 more
wiley   +1 more source

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