Results 191 to 200 of about 592,640 (317)

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Almost optimal geometrically local quantum LDPC codes in any dimension. [PDF]

Nat Commun
Li X, Lin TC, Wills A, Hsieh MH.
europepmc   +1 more source

Exact evaluation of Catmull-Clark subdivision surfaces at arbitrary parameter values

International Conference on Computer Graphics and Interactive Techniques, 1998
J. Stam
semanticscholar   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Fine-scale structure of a whole regional population through genetics and genealogies. [PDF]

Nat Commun
Morin GP, Moreau C, Barry A, Girard SL.
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Management of severe bimaxillary crowding using unilateral molar extraction and miniscrew-assisted posterior distalization: A case report. [PDF]

Medicine (Baltimore)
Nguyen VA, Vo TQP.
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Elevated CHI3L1 and COX-2 levels correlate with menstrual pain severity in endometriosis. [PDF]

SAGE Open Med
Rusly DK, Permadi W, Bayuaji H, Syam HH, Madjid TH, Ritonga MA, Rusda M.   +6 more
europepmc   +1 more source

Asymptotic syzygies of Stanley-Reisner rings of iterated subdivisions [PDF]

, 2017
Aldo Conca, Martina Juhnke‐Kubitzke, Volkmar Welker   +2 more
openalex   +1 more source