Results 21 to 30 of about 165,902 (219)

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.
Abstract Gorlin syndrome can be caused by pathogenic/likely pathogenic (P/LP) variants in the tumor suppressor gene PTCH1 (9q22.1‐q31), which encodes the receptor for the sonic hedgehog (SHH) ligand. We present a 12‐month‐old boy clinically diagnosed with Gorlin syndrome who was found to have significantly delayed development, palmar pitting, palmar ...
Aaron Y. Mochizuki   +4 more
wiley   +1 more source

New Quantile Regression Model for Unit Interval Regressands

open access: yesEngineering Reports
This paper contributes significantly to regression analysis in that the authors have proposed a new and modern quantile regression (QR) model, which focuses exclusively on targeting regression analysis response variables that have a range on the unit ...
Robert Adombire Akumbobe   +2 more
doaj   +1 more source

Novel Alu insertion in the ZEB2 gene causing Mowat‐Wilson syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Alu elements are short, interspersed elements located throughout the genome, playing a role in human diversity, and occasionally causing genetic diseases. Here, we report a novel Alu insertion causing Mowat‐Wilson syndrome, a rare neurodevelopmental disorder, in an 8‐year‐old boy displaying the typical clinical features for Mowat‐Wilson ...
Maria Barington   +6 more
wiley   +1 more source

The complex sine-Gordon model on a half line [PDF]

open access: yes, 2003
In this thesis, we study the complex sine-Gordon model on a half line. The model in the bulk is an integrable (l+1) dimensional field theory which is U(1) gauge invariant and comprises a generalisation of the sine-Gordon theory.
Tzamtzis, Georgios
core  

SINEs of the perfect character [PDF]

open access: yesProceedings of the National Academy of Sciences, 1999
In their quest to reconstruct the tree of life, evolutionary biologists are constantly looking for new sources of data. Morphological data have been applied to the phylogeny problem since the 1800s, and morphology continues to be the only source of available data on relationships for the vast majority of species on Earth, past and present.
openaire   +2 more sources

On the integrability of the sine-Gordon system [PDF]

open access: yes, 1997
This thesis investigates the integrability of the sine-Gordon system of nonlinear partial differential equations when the dependent variables are subject to some very particular boundary conditions.
MacIntyre, A., MacIntyre, Alistair
core  

Sine-Gordon Equation: From Discrete to Continuum [PDF]

open access: yes, 2014
In the present Chapter, we consider two prototypical Klein-Gordon models: the integrable sine- Gordon equation and the non-integrable φ4 model.
P. G. Kevrekidis   +7 more
core   +1 more source

Complex sine-Gordon theory: solitons, defects and boundaries [PDF]

open access: yes, 2008
This thesis presents research into the properties and features of the complex sine- Gordon theory. The CSG theory is a dimensional integrable held theory that admits soliton solutions which carry a Noether charge due to the U(I) invariance of the theory.
Umpleby, James
core  

Sine square distribution: a new statistical model based on the sine function [PDF]

open access: yes, 2008
This paper introduces a new continuous distribution based on the sine function. The proposed Sine Square distribution has one parameter and its domain depends on this parameter. The probability density function f(x) of a Sine Square variable X as well as
Al-Faris, Rand Q., Khan, Shahjahan
core  

Detection of structural damage using the exponential sine sweep method [PDF]

open access: yes, 2013
Structural damages can result in nonlinear dynamical responses. Thus, estimating the nonlinearities generated by damages potentially allows detecting them.
HAJRYA, Rafik   +2 more
core  

Home - About - Disclaimer - Privacy