Results 41 to 50 of about 1,090,949 (282)

Ebstein's Anomaly [PDF]

open access: yesCirculation, 1957
Four cases of Ebstein's anomaly are described, revealing that the clinical features permit diagnosis in the majority of instances and that cardiac catheterization affords precise confirmation of the diagnosis. The occurrence of this anomaly in acyanotic adults is pointed out, and the similarity to acquired valvular rheumatic heart disease is stressed.
S G, BLOUNT, I J, GELB, M C, MCCORD
openaire   +2 more sources

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski   +9 more
wiley   +1 more source

Anomalies for Galilean fields

open access: yes, 2018
We initiate a systematic study of `t Hooft anomalies in Galilean field theories, focusing on two questions therein. In the first, we consider the non-relativistic theories obtained from a discrete light-cone quantization (DLCQ) of a relativistic theory ...
Jensen, Kristan
core   +2 more sources

Anomalies in Instanton Calculus [PDF]

open access: yes, 1994
I develop a formalism for solving topological field theories explicitly, in the case when the explicit expression of the instantons is known. I solve topological Yang-Mills theory with the $k=1$ Belavin {\sl et al.} instanton and topological gravity with
Amati   +37 more
core   +3 more sources

Progressive familial intrahepatic cholestasis type 4: a case report

open access: yesJournal of Medical Case Reports
Background Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure ...
Mohamed Abdelmalak Abokandil   +6 more
doaj   +1 more source

Family based and case–control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese population

open access: yesMolecular Genetics & Genomic Medicine, 2021
Aims Dozens of causative genes and their mechanisms of nonsyndromic cleft lip with or without cleft palate (NSCL/P) were revealed through genome‐wide association and linkage studies.
Duc Minh Nguyen   +10 more
doaj   +1 more source

Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle   +5 more
wiley   +1 more source

From tracial anomalies to anomalies in Quantum Field Theory

open access: yes, 2002
zeta-regularized traces, resp. super-traces, are defined on a classical pseudo-differential operator A by: tr^Q(A):= f.p.tr(A Q^{-z})_{|_{z=0}}, resp. str^Q(A):= f.p.str(A Q^{-z})_{|_{z=0}}, where f.p.
Adams   +30 more
core   +3 more sources

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel   +3 more
wiley   +1 more source

Fivebrane Gravitational Anomalies [PDF]

open access: yes, 1999
Freed, Harvey, Minasian and Moore have proposed a mechanism to cancel the gravitational anomaly of the M-theory fivebrane coming from diffeomorphisms acting on the normal bundle.
Aganagic   +26 more
core   +4 more sources

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