The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst +4 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra +5 more
wiley +1 more source
ZSF1 lean rats – How healthy are they?
Animal Models and Experimental Medicine, EarlyView.This study aimed to examine the health status, specifically the physiology and myocardial, vascular, and skeletal muscle function of lean ZSF1 rats by comparing them to age‐ and sex‐matched Wistar rats. Compared to Wistar controls, ZSF1 lean rats exhibited lower body weight, but showed increased heart, and skeletal muscle mass.
Antje Schauer +4 more
wiley +1 more source
Endogenous Repair in Vanishing White Matter
Annals of Neurology, EarlyView.Objective Vanishing white matter is a leukodystrophy with remarkable regional variation in disease severity. The cerebral and cerebellar white matter chronically degenerates, while stress‐induced episodes of rapid neurological deterioration coincide with the appearance of acute focal lesions in the deep gray structures and brainstem.
Bonnie C. Plug +7 more
wiley +1 more source
B
, 2005 Christopher H. Johnson
openalex +1 more source
Brain Atrophy Associated With Risk Variant rs10191329 Extends Beyond Multiple Sclerosis
Annals of Neurology, EarlyView.The risk allele rs10191329*A is associated with disease severity and brain atrophy in people with multiple sclerosis (MS). We investigated the association of rs10191329 with age‐related brain atrophy in a population‐based cohort using 10,308 magnetic resonance imaging (MRI) scans of 4,815 participants aged ≥ 45 years without MS in cross‐sectional and ...
Cato E. A. Corsten +10 more
wiley +1 more source
The Ij-plein: Housing At The Threshold of Urban Policies
Megaron, 2015 Esen Gökçe Özdamar
doaj +1 more source
Before they pass away. De verhalen achter de foto’s Hannelore Vandenbussche Uitgeverij Brandt, Amsterdam, 2015 [PDF]
, 2016 Patrick Van Damme
openalex +1 more source
Evaluation of sex differences in patients with ST-elevated myocardial infarction: an observational cohort study in Amsterdam and surrounding region [PDF]
, 2020 T. Kerkman +6 more
openalex +1 more source