Assessment of MALDI-TOF MS for Arthropod Identification Based on Exuviae Spectra Analysis. [PDF]
Biol Proced OnlineBouledroua R +6 more
europepmc +1 more source
A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu +10 more
wiley +1 more source
Congenital diaphragmatic hernia presenting as tension hydropneumothorax: surgical dilemma. [PDF]
Ann Med Surg (Lond)Aihole JS.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa +3 more
wiley +1 more source
A Biomimetic Flapping Mechanism for Insect Robots Driven by Indirect Flight Muscles. [PDF]
Biomimetics (Basel)Shiokawa Y, Liu R, Sawada H.
europepmc +1 more source
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri +3 more
wiley +1 more source
The effect of sleeping posture on occupant injury in frontal coach crashes. [PDF]
Sci RepTingting S +3 more
europepmc +1 more source
Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina +6 more
wiley +1 more source
Availability, cost and affordability of essential medicines for smoking cessation in low-income and middle-income countries: a cross-sectional study. [PDF]
ThoraxPlum C +6 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini +8 more
wiley +1 more source