Results 121 to 130 of about 2,206,324 (288)

A case report of Joubert syndrome with renal involvement and seizures in a neonate

Radiology Case Reports, 2021
Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI).
Ilir Ahmetgjekaj, PhD, Masum Rahman, MD, Fjolla Hyseni, MD, Ali Guy, Kulsum Madani, MD, Kristi Saliaj, MD, Angela Guy, MD, PhD, Valon Vokshi, Ina Kola, MD, Juna Musa, MD, MSc   +9 more
doaj  

Strabismic syndromes and syndromic strabismus - a brief review [PDF]

arXiv, 2015
Strabismus can be found in association with congenital heart diseases, for examples, in velocardiofacial (DiGeorge) syndrome, Down syndrome, mild dysmorphic features, in CHARGE association, Turner syndrome, Ullrich-Turner syndrome, cardiofaciocutaneous syndrome.1-4 Some types of strabismus is heritable (e.g.
arxiv  

Tubulin Polymerization Promoting Proteins: Functional Diversity With Implications in Neurological Disorders

Journal of Neuroscience Research, Volume 103, Issue 5, May 2025.
A family of human proteins, encoded by Tubulin Polymerization Promoting Proteins (TPPP), is highly conserved across species. TPPP displays remarkable functional diversity and is implicated in various neurological disorders. Image created with BioRender.com.
Paloma J. Diaz, Qian Shi, Priscilla Y. McNeish, Swati Banerjee   +3 more
wiley   +1 more source

Equation satisfied by electron-electron mutual Coulomb repulsion energy density functional [PDF]

arXiv, 2011
The electron-electron mutual Coulomb repulsion energy density functional satisfies an equation that links functionals and functional derivatives at N-electron and (N-1)-electron densities for densities determined from the same adiabatic scaled external potential for the N-electron system.
arxiv  

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +1 more source

A G-protein activation cascade from Arl13B to Arl3 and implications for ciliary targeting of lipidated proteins

eLife, 2015
Small G-proteins of the ADP-ribosylation-factor-like (Arl) subfamily have been shown to be crucial to ciliogenesis and cilia maintenance. Active Arl3 is involved in targeting and releasing lipidated cargo proteins from their carriers PDE6δ and UNC119a/b ...
Katja Gotthardt, Mandy Lokaj, Carolin Koerner, Nathalie Falk, Andreas Gießl, Alfred Wittinghofer   +5 more
doaj   +1 more source

Identity for the DFT correlation functional [PDF]

arXiv, 2011
It is shown that the electron density functional correlation functional satisfies an equation that links the N-electron and (N-1)-electron densities of the same adiabatically scaled Hamiltonian of the interacting electron system.
arxiv  

Beyond homozygosity mapping: family-control analysis based on Hamming distance for prioritizing variants in exome sequencing [PDF]

, 2015
A major challenge in current exome sequencing in autosomal recessive (AR) families is the lack of an effective method to prioritize single-nucleotide variants (SNVs).
Fahiminiya, S, Imai, A, Lathrop, M, Majewski, J, Nakaya, A, Ott, J, Sakata, Y, Takashima, S, Tétreault, M   +8 more
core   +1 more source

Methods to Assess Neuronal Primary Cilia Electrochemical Signaling

Journal of Cellular Physiology, Volume 240, Issue 4, April 2025.
Hippocampal neuron primary cilia are illuminated with a fluorescent biosensor. ABSTRACT Primary cilia are polymodal sensory organelles which project from the apical side of polarized cells. They are found in all brain hemispheres but are most pronounced in neurons, which comprise the granular layers of the hippocampus and cerebellum.
Paul G. DeCaen, Louise F. Kimura
wiley   +1 more source

The relationship between the density functional Hartree-plus-exchange-correlation potential for an integer N-electron and (N-1)-electron system [PDF]

arXiv, 2011
It is shown that the Hartree-plus-exchange-correlation density functional potential for an integer N-electron system differs by a constant form the corresponding potential for an (N-1)-electron system if the densities are determined from the same external potential.
arxiv