Results 181 to 190 of about 83,933 (315)

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet, Michael Zech, Ulrich A. Schatz, Miriam Adamovičová, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Heike Weigand, Robert Jech, Thomas Meitinger, Juliane Winkelmann, Melanie Brugger   +11 more
wiley   +1 more source

Semiembedded HDPE/VIS Composite Membranes with Tailored Wettability and Superior Mechanical Durability for Outdoor Protective Applications. [PDF]

ACS Omega
Zhang H, Zhai Q, Zhen Q, Lv H, Ye K.
europepmc   +1 more source

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

The structure of a CAP–DNA complex having two cAMP molecules bound to each monomer

, 1997
J.M. Passner, Thomas A. Steitz
openalex   +2 more sources

Mapping of the cAMP-dependent phosphorylation sites on the acetylcholine receptor. [PDF]

, 1986
Miriam C. Souroujon, Drorit Neumann, Sergio Pizzighella, Mati Fridkin, Sara Fuchs   +4 more
openalex   +1 more source

Optimal deep learning based vehicle detection and classification using chaotic equilibrium optimization algorithm in remote sensing imagery. [PDF]

Sci Rep
Alotaibi Y, Nagappan K, Thanarajan T, Rajendran S.   +3 more
europepmc   +1 more source

CAMP SANITATION

American Journal of Public Health, 1925
openaire   +3 more sources

Outbreak of Febrile Respiratory Illness Associated with Adenovirus 11a Infection in a Singapore Military Training Camp

, 2010
Adriana E. Kajon, Laura M. Dickson, David Metzgar, Huo‐Shu H. Houng, Vernon Lee, Boon Huan Tan   +5 more
openalex   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Too much charity? [PDF]

EMBO Rep
Gannon F.
europepmc   +1 more source