Analysis of copy number variations and candidate genes in recurrent pregnancy loss. [PDF]
Wang L, Yang L, Li S, Liu X, Tang P.
europepmc +1 more source
Biphasic Pulmonary Blastoma: A Rare Tumor With Fatal Outcome—First Reported Case From Lebanon
ABSTRACT Biphasic pulmonary blastoma is a rare lung malignancy, accounting for less than 0.5% of all primary lung tumors. It is characterized by a biphasic nature of those tumors that consist of an admixture of epithelial and mesenchymal components. Up to this date, no standardized treatment approach has been developed and patient's prognosis remains ...
Houssein Chahrour +4 more
wiley +1 more source
Survival in infants with trisomy 18, palliative care and ethical reflections: a single center considerations. [PDF]
Caggiano S +11 more
europepmc +1 more source
Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi +6 more
wiley +1 more source
Concurrent 12p trisomy and 4q34.2-q35.2 deletion detected by WES-CNV: Case report. [PDF]
Sun X, Lin S, Wang W, Qi Y, Jiang K.
europepmc +1 more source
Meta‐analysis of second‐trimester markers for trisomy 21
Maria Agathokleous +5 more
semanticscholar +1 more source
In an ageing and inflamed haematopoietic ecosystem, clonal haematopoiesis and chronic lymphocytic leukaemia may originate from shared or parallel stem cell clones. This interaction modulates the effects of targeted therapies and contributes to cytopenias, cardiovascular toxicity, therapy‐related myeloid neoplasms and Richter transformation.
Enrica Antonia Martino +12 more
wiley +1 more source
Increased Nuchal Translucency in Fetuses With a Crown-Rump Length of < 45 mm: Clinical Outcomes and Diagnostic Implications. [PDF]
Kreiselmaier P +3 more
europepmc +1 more source
The natural history of pregnancies with a diagnosis of Trisomy 18 or Trisomy 13; a retrospective case series [PDF]
Orla A. Houlihan, Keelin O’Donoghue
openalex +1 more source
A Life Worth Sustaining? Bestowed Worth and Pediatric Care
Abstract When parents request life‐sustaining treatments for children who suffer from profound neurocognitive disabilities or are at the end of life, the typical ethics advice for clinicians is to accommodate the request. It can be unclear what interests such children have, and being unable to assess those interests, a clinician will tend to honor ...
Daniel T. Kim, Xiang Yu
wiley +1 more source

