Results 11 to 20 of about 21,722 (221)
GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome. [PDF]
Am J Med Genet AABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Meiss LN +8 more
europepmc +2 more sources
Critical evaluation of ECOSAR and E-FAST platforms to predict ecological risks of PFAS
Environmental Advances, 2022 Per- and polyfluoroalkyl substances (PFAS) are ubiquitous in the environment. Unlike other persistent chemicals, PFAS are highly soluble in water and tend to partition to surface and groundwater rather than soil and sediment.
Andrey Massarsky +7 more
doaj +1 more source
International Journal of Breast Cancer, 2016 Genetic testing for hereditary breast cancer is an integral part of individualized care in the new era of precision medicine. The accuracy of an assay is reliant on not only the technology and bioinformatics analysis utilized but also the experience and ...
T. Pesaran +8 more
doaj +1 more source
Ten Years of Clinical Evaluation of the Woven EndoBridge: A Safe and Effective Treatment for Wide-Neck Bifurcation Aneurysms [PDF]
Neurointervention, 2021 Intrasaccular flow disruption is an innovative approach for the endovascular treatment of intracranial aneurysms. As of now, only one device is currently available worldwide: the Woven EndoBridge (WEB) device (MicroVention, Aliso Viejo, CA, USA).
Laurent Pierot
doaj +1 more source
Perspectivas Revista de Ciencias Sociales, 2022 La pandemia por COVID-19 desató una emergencia sanitaria de dimensiones inéditas alrededor del planeta. En cuestión de meses, el virus cambió radicalmente la vida de millones de personas y sus efectos parecen ya evidenciar riesgos particulares para las niñas y los niños, sobre todo en aquellas familias que viven en situaciones de vulnerabilidad.
openaire +4 more sources
OncoImmunology, 2022 Major immunotherapy challenges include a limited number of predictive biomarkers and the unusual imaging features post-therapy, such as pseudo-progression, which denote immune infiltrate-mediated tumor enlargement.
Shumei Kato +16 more
doaj +1 more source
Clinical Case Reports, 2018 Key Clinical Message Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of GLI2 haploinsufficiency as well as UPD of chromosome 20, both identified ...
Samin A. Sajan +6 more
doaj +1 more source
Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features
Case Reports in Genetics, 2014 Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-
Jennifer L. Roberts +6 more
doaj +1 more source
Micropropagación del aliso común para la conservación de su germoplasma [PDF]
Spanish Journal of Rural Development, 2010 [EN] Shoot cultures from adult material of common alder (Alnus glutinosa) were established in vitro. Branches from the canopy and stump sprouts were collected from 20-30-year-old trees. Shoots developed from these branches were used to initiate the cultures using Woody Plant Medium supplemented with 2 mg/l benzyadenine and 0.5 mg/l ...
San José, M. Carmen +2 more
openaire +3 more sources
Revista de Investigación e Innovación Agropecuaria y de Recursos NaturalesEl distrito Pampas reporta escasez de agua, causado por la deforestación en las microcuencas. En tal sentido, se realizó la reforestación utilizando especie nativa como el Alnus glutinosa (L.) Gaertn (aliso), con el fin de que en el futuro retenga el ...
Jairo Edson Gutiérrez-Collao +4 more
doaj +1 more source