Results 31 to 40 of about 183,832 (178)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
Simulation and observations of stratospheric aerosols from the 2009 Sarychev volcanic eruption [PDF]
, 2011 We used a general circulation model of Earth’s climate to conduct simulations of the 12-16 June 2009 eruption of Sarychev volcano (48.1°N, 153.2°E).
Barnes, John E. +11 more
core +1 more source
Dentofacial Malocclusion in Neurofibromatosis 1 in Finland
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold +6 more
wiley +1 more source
Dermatology Online Journal, 2008 A 26-year-old woman presented for evaluation of multiple, red-yellow papules that had been appearing over the course of 2 months on the extensor surfaces of the upper extremities, dorsal aspects of the hands, thighs, and buttocks. Serum lipid evaluation showed hypertriglyceridemia in a patient with a recent history of pancreatitis.
Merola, Joseph F +3 more
openaire +4 more sources
On-disc observations of flux rope formation prior to its eruption [PDF]
, 2017 Coronal mass ejections (CMEs) are one of the primary manifestations of solar activity and can drive severe space weather effects. Therefore, it is vital to work towards being able to predict their occurrence.
Baker, D. +8 more
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong +16 more
wiley +1 more source
Proceedings of the National Academy of Sciences, 2016 For those who remember the classic disaster-docudrama Supervolcano (BBC-Discovery Channel 2005), the adjective “eruptible” is likely to ring a bell. Set in the near future and generally quite scientifically literate, the movie envisions volcanologists trying desperately to evaluate the near-term threat posed by the giant Yellowstone magmatic system. At
openaire +3 more sources