Results 81 to 90 of about 90,422 (306)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
TTC21B: From Modifier to Causative Gene in Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +1 more source
Bengal Journal of Otolaryngology and Head Neck Surgery, 2019 Introduction Human bites are notorious due to chance of infection by direct inoculation of pathogens from saliva and must be managed properly. Human bite injuries cause dilemma to the treating doctor regarding its way of management.
Prasit Biswas +2 more
doaj
Forehead carbuncle with intractable headache
, 2015 Ping-yin Chou,1,* Yin-Chun Chen,2,* Poyin Huang3,4 1Department of Neurology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; 2Department of Dermatology, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung Medical ...
Chou PY, Chen YC, Huang P
core
Clinical Manifestation of a Patient With Forehead Sparganosis
, 2017 Human sparganosis is a parasite infection caused by the larva of a tapeworm of the genus Spirometra. Ocular, central nervous system, auricular, pulmonary, intraosseous, intraperitoneal, and subcutaneous manifestations of this infection in the neck or ...
Mi Young Eo +9 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa +4 more
wiley +1 more source
Edge-Computing Video Analytics for Real-Time Traffic Monitoring in a Smart City
Sensors, 2019 The increasing development of urban centers brings serious challenges for traffic management. In this paper, we introduce a smart visual sensor, developed for a pilot project taking place in the Australian city of Liverpool (NSW). The project’s aim
Johan Barthélemy +3 more
doaj +1 more source
, 2017 Hui-hsiu Chang,1,2 Edward Suh,3 Blake H Fortes,3 Franklin Zheng,3 Anny MS Cheng3,4 1Division of Plastic and Reconstructive Surgery, Department of Surgery, National Taiwan University Hosiptal Yunlin Branch, Yunlin, Taiwan; 2Department of Industrial ...
Chang HH +4 more
core
Ultrasonography Analysis of Vessels Around the Forehead Midline
, 2020 Background: Filler injection into the glabella is well known to be a highly dangerous procedure due to the high risk of embolism and intravascular injection.
김희진 +8 more
core +1 more source