Results 31 to 40 of about 179,412 (137)

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Genome Medicine, 2019
The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence.
Sarah E. Brnich, A. A. Abou Tayoun, F. Couch, Garry R. Cutting, M. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, S. Tavtigian, M. W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S Berg, Ahmad N. Jonathan S. Leslie G. Steven E. Garry R. Sian M Abou Tayoun Berg Biesecker Brenner Cutting Ellard , A. A. Abou Tayoun, Jonathan S Berg, Leslie G. Biesecker, S. Brenner, Garry R. Cutting, S. Ellard, M. Greenblatt, Steven M. Harrison, I. Karbassi, R. Karchin, J. Mester, A. O’Donnell-Luria, T. Pesaran, S. Plon, H. Rehm, S. Tavtigian, S. Topper   +32 more
semanticscholar   +1 more source

Comentario a Baldjian AC et al., “Estudio epidemiológico de lesiones en un equipo profesional de fútbol en Argentina. Estudio observacional retrospectivo a 2 años”

Argentinian Journal of Respiratory & Physical Therapy, 2023
S. Grosso
semanticscholar   +1 more source

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Human Mutation, 2018
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants.
A. A. Abou Tayoun, T. Pesaran, Marina T. DiStefano, A. Oza, H. Rehm, L. Biesecker, S. Harrison   +6 more
semanticscholar   +1 more source

Diff-AMP: tailored designed antimicrobial peptide framework with all-in-one generation, identification, prediction and optimization

Briefings Bioinform.
Antimicrobial peptides (AMPs), short peptides with diverse functions, effectively target and combat various organisms. The widespread misuse of chemical antibiotics has led to increasing microbial resistance. Due to their low drug resistance and toxicity,
Rui Wang, Tao Wang, Linlin Zhuo, Jinhang Wei, Xiangzheng Fu, Quan Zou, Xiaojun Yao   +6 more
semanticscholar   +1 more source

Atenció a la diversitat: implantar l’educació multinivell a les matemàtiques [PDF]

, 2012
La diversitat és una característica intrínseca de les persones, és un fet diferenciador de cada individu. L’escola no és aliena a aquesta realitat. La diversitat a l’escola s’ha convertit en un aspecte de gran preocupació entre els docents.
Díaz Pagan, Ona
core   +1 more source

Reply to: comments on Alentorn-Geli et al.: anteromedial portal (AMP) versus transtibial (TT) drilling techniques in ACL reconstruction: a blinded cross-sectional study at two- to five-year follow-up. [PDF]

Int Orthop, 2011
Alentorn-Geli E, Samitier G, Alvarez P, Steinbacher G, Cugat R.   +4 more
europepmc   +1 more source

Anteromedial portal versus transtibial drilling techniques in ACL reconstruction: a blinded cross-sectional study at two- to five-year follow-up. [PDF]

Int Orthop, 2010
Alentorn-Geli E, Samitier G, Alvarez P, Steinbacher G, Cugat R.   +4 more
europepmc   +1 more source

Servicios y contenidos audiovisuales para las plataformas digitales: análisis de las estrategias de diversificación cross-media [PDF]

, 2012
En un entorn digital i convergent on cada vegada és més fàcil distribuir continguts audiovisuals mitjançant diferents plataformes, les organitzacions de televisió pública estan cridades a desenvolupar estratègies per aprofitar les oportunitats del mercat
Villa Montoya, María Isabel
core  

Türk Milli Takımı ve Galatasaray'ın Romanya Milli Takımına Karşı Futbol Müsabakaları (17 & 19 Nisan

Journal of Turkish Studies, 2015
openaire   +1 more source

Visions d’una crisi. La indústria del calçat als setanta [PDF]

, 2004
Amat-Montesinos, Xavier
core