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1. Full Text Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
by Bruel, A.‐L and Masurel‐Paulet, A and Rivière, J.‐B and Duffourd, Y and Lehalle, D and Bensignor, C and Huet, F and Borgnon, J and Roucher, F and Kuentz, P and Deleuze, J.‐F and Thauvin‐Robinet, C and Faivre, L and Thevenon, J
Clinical genetics, ISSN 0009-9163, 02/2017, Volume 91, Issue 2, pp. 333 - 338
scrotal agenesis | whole‐exome sequencing | MAB21L1 | intellectual disability | whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Humans | Intellectual Disability - pathology | Male | Developmental Disabilities - genetics | Homeodomain Proteins - genetics | Intellectual Disability - genetics | Homozygote | Developmental Disabilities - pathology | Exome - genetics | Phenotype | Animals | Mice | Scrotum - pathology | Mutation | Child | Abnormalities, Multiple - genetics | Frameshift Mutation - genetics | Agenesis | Genetic aspects | Genetics | Reproductive system | Rodents | Index Medicus | Life Sciences | Human health and pathology
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2. Full Text Energy storage: Applications and challenges
by Kousksou, T and Bruel, P and Jamil, A and El Rhafiki, T and Zeraouli, Y
Solar energy materials and solar cells, ISSN 0927-0248, 01/2014, Volume 120, Issue Part. A, pp. 59 - 80
Renewable energy | Progress | Energy storage technologies | Physical Sciences | Materials Science | Technology | Materials Science, Multidisciplinary | Energy & Fuels | Physics | Science & Technology | Physics, Applied | Electrical engineering. Electrical power engineering | Energy | Electrical power engineering | Exact sciences and technology | Applied sciences | Energy. Thermal use of fuels | Energy accumulation | Direct energy conversion and energy accumulation | Transport and storage of energy | Energy management systems | Solar cells | Feasibility | Photovoltaic cells | Solar energy | Energy storage | Engineering Sciences
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3. Full Text Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features
by Moutton, S and Bruel, A.‐L and Assoum, M and Chevarin, M and Sarrazin, E and Goizet, C and Guerrot, A.‐M and Charollais, A and Charles, P and Heron, D and Faudet, A and Houcinat, N and Vitobello, A and Tran‐Mau‐Them, F and Philippe, C and Duffourd, Y and Thauvin‐Robinet, C and Faivre, L
Clinical genetics, ISSN 0009-9163, 06/2018, Volume 93, Issue 6, pp. 1172 - 1178
synaptopathy | marfanoid | DLG4 | intellectual disability | whole exome sequencing | PSD‐95 | PSD-95 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene expression | Genes | Strabismus | Glutamic acid receptors (ionotropic) | Intellectual disabilities | N-Methyl-D-aspartic acid receptors | Synaptic density | Haploinsufficiency | Pathogenicity | α-Amino-3-hydroxy-5-methyl-4-isoxazole propionic acid | Scoliosis | Nystagmus | Palate | Glutamatergic transmission | Index Medicus | Life Sciences | Genetics
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4. Full Text Solar driven cooling systems: An updated review
by Allouhi, A and Kousksou, T and Jamil, A and Bruel, P and Mourad, Y and Zeraouli, Y
Renewable & sustainable energy reviews, ISSN 1364-0321, 04/2015, Volume 44, pp. 159 - 181
Cooling | Solar | Performance | Thermal | Science & Technology - Other Topics | Green & Sustainable Science & Technology | Technology | Energy & Fuels | Science & Technology | Analysis | Solar energy | Engineering Sciences
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5. Full Text Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
by Delanne, J and Nambot, S and Chassagne, A and Putois, O and Pelissier, A and Peyron, C and Gautier, E and Thevenon, J and Cretin, E and Bruel, A.L and Goussot, V and Ghiringhelli, F and Boidot, R and Tran Mau-Them, F and Philippe, C and Vitobello, A and Demougeot, L and Vernin, C and Lapointe, A.S and Bardou, M and Luu, M and Binquet, C and Lejeune, C and Joly, L and Juif, C and Baurand, A and Sawka, C and Bertolone, G and Duffourd, Y and Sanlaville, D and Pujol, P and Geneviève, D and Houdayer, F and Thauvin-Robinet, C and Faivre, L
European journal of medical genetics, ISSN 1769-7212, 06/2019, Volume 62, Issue 6, pp. 103529 - 103529
Opinion based studies | Literature review | Actionability | Secondary findings | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus | Life Sciences | Genetics | Human genetics
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6. Full Text Current and future use of point-of-care tests in primary care: an international survey in Australia, Belgium, The Netherlands, the UK and the USA
by Howick, Jeremy and Cals, Jochen W L and Jones, Caroline and Price, Christopher P and Plüddemann, Annette and Heneghan, Carl and Berger, Marjolein Y and Buntinx, Frank and Hickner, John and Pace, Wilson and Badrick, Tony and Van den Bruel, Ann and Laurence, Caroline and van Weert, Henk C and van Severen, Evie and Parrella, Adriana and Thompson, Matthew
BMJ open, ISSN 2044-6055, 08/2014, Volume 4, Issue 8, pp. e005611 - e005611
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Point-of-Care Systems - trends | Primary Health Care - statistics & numerical data | United States | Humans | Middle Aged | Male | United Kingdom | Data Collection | Clinical Laboratory Techniques - trends | Clinical Laboratory Techniques - utilization | Point-of-Care Systems - utilization | Netherlands | Primary Health Care - trends | Belgium | Female | Australia | Studies | Cost analysis | Decision making | Primary care | Potassium | Clinical outcomes | Index Medicus
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7. Full Text The successful uptake and sustainability of rapid infectious disease and antimicrobial resistance point-of-care testing requires a complex "mix-and-match' implementation package
by Hays, John and Mitsakakis, K and Luz, S and Belkum, Alex and Becker, K and Bruel, Ann and Harbarth, Stephan and Rex, J.H and Simonsen, G.S and Werner, G and Di Gregori, V and Ludke, G and Staa, Tjeerd and Moran-Gilad, J and Bachmann, T.T and JPIAMR AMR-RDT Consortium and JPIAMR AMR-RDT consortium and on behalf of the JPIAMR AMR-RDT consortium
European journal of clinical microbiology & infectious diseases, ISSN 0934-9723, 02/2019, Volume 38, Issue 6, pp. 1015 - 1022
Point-of-care testing . Infectious diseases antimicrobial resistance . Implementation package . Diagnostic innovator . Healthcare providers . General public . Future proofing | Medical Microbiology | Point-of-care testing | Future proofing | Infectious diseases antimicrobial resistance | Biomedicine | Internal Medicine | Implementation package | Healthcare providers | General public | Diagnostic innovator | Infectious Diseases | Life Sciences & Biomedicine | Microbiology | Science & Technology | Point-of-Care Systems - organization & administration | Public Health | Point-of-Care Systems - trends | Humans | Cooperative Behavior | Drug Resistance, Bacterial | Point-of-Care Testing - trends | Diagnostic Tests, Routine - trends | Anti-Bacterial Agents - therapeutic use | Communicable Diseases - drug therapy | Health Personnel | Communicable Diseases - diagnosis | Anti-Bacterial Agents - pharmacology | Working groups | Health risks | Antimicrobial agents | Drug resistance | Antiinfectives and antibacterials | Guidelines | Opinion leaders | Disease resistance | Infectious diseases | Sustainability | Point of care testing | Transnationalism | Occupational health | Diagnostic systems | Antimicrobial resistance | Index Medicus | VDP | Basic medical, dental and veterinary science disciplines: 710 | Medisinske Fag: 700 | Medical disciplines: 700 | Basale medisinske, odontologiske og veterinærmedisinske fag: 710 | Review
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