Results 191 to 194 of about 295,803 (194)

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, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Baseline ECG and Cardiovascular Outcomes in People With HIV: Insights From REPRIEVE. [PDF]

J Am Heart Assoc
Awwad A, de Filippi C, Ribaudo H, Zanni MV, Fichtenbaum CJ, Malvestutto CD, Aberg JA, Diggs MR, Chu SM, Lu AB, Sponseller CA, Bagchi S, Wanjalla C, Smith G, Chew KW, Currier JS, Zhao S, Lu MT, Douglas PS, Grinspoon SK, Bloomfield GS.   +20 more
europepmc   +1 more source

Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis. [PDF]

Front Genet
Huang S, Wu H, She L, Liu L.
europepmc   +1 more source