Results 151 to 160 of about 177,438 (306)
Exploring Esophageal Microbiomes in Esophageal Diseases: A Systematic Review. [PDF]
J Neurogastroenterol Motil, 2020 Park CH, Lee SK.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
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Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
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Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
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International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Introduction Staphylococcus species are frequently isolated from the sinonasal niche of chronic rhinosinusitis (CRS) patients. While Staphylococcus aureus is often associated with recalcitrant CRS, Staphylococcus epidermidis and Staphylococcus lugdunensis are largely deemed commensal.
Sintayehu Ambachew +8 more
wiley +1 more source
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2012 Introduction: Gastroesophageal reflux is a common gastrointestinal disorder among infants, which can cause complications, such as esophagitis and Barrett's esophagus if its diagnosis and treatment are delayed.
F Jassemi Zergani +5 more
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Relapses, Comorbidities, and Predictors of Outcome in Anti‐GABAA Receptor Encephalitis
Annals of Neurology, EarlyView.Objectives To characterize the magnetic resonance imaging (MRI) lesion dynamics, comorbidities, predictors of relapse, and outcomes in anti‐γ‐aminobutyric acid type A receptor (GABAAR) encephalitis, and assess the utility of LIM‐domain‐only‐protein 5 (LMO5) antibodies as tumor markers.
Claudia Papi +33 more
wiley +1 more source
Application of convolutional neural networks for automated segmentation and classification in esophageal diseases. [PDF]
Front Med (Lausanne)Pu L, Wang X, Yan S, Zhuang S, He X.
europepmc +1 more source
Advanced NanoBiomed Research, EarlyView.CRISPR/Cas9 has revolutionized the field of gene therapy, but delivery remains an outstanding issue. We propose a nonviral gold‐nanoparticle platform for co‐delivery of CRISPR/Cas9 ribonucleoprotein and long 2.1 kilobase dsDNA transgene constructs. This CRISPR‐AuNP is inexpensive to produce and mediate gene editing and DNA delivery in T cells and CD34+
Rachel A. Cunningham +8 more
wiley +1 more source