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1. Full Text Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
by Gorman, Kathleen M and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and McTague, Amy and Sanchis-Juan, Alba and Carss, Keren and Carss, Keren J and Bryant, Emily and Reich, Adi and Schneider, Amy L and Pressler, Ronit M and Simpson, Michael A and Debelle, Geoff D and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and Jan-Kamsteeg, Eric and Paciorkowski, Alex R and King, Daniel and King, Mary D and Cross, J. Helen and Cross, Gareth and Poduri, Annapurna and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and McCullagh, Gary and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Philip and Jones, Elizabeth and Jones, Wendy D and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Bennett, David and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, John R and Bradley, Lisa and Brady, Angela and Brady, Angie and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Guy and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collins, Peter and Collinson, Morag N and Connell, Fiona and Cooper, Nichola and Cooper, Nicola and Cox, Tony and ... and NIHR BioResource and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon.... 
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | ENCEPHALOPATHIES | CLASSIFICATION | DE-NOVO MUTATIONS | CALCIUM-CHANNELS | GENETICS & HEREDITY | MYOCLONUS-DYSTONIA | Allelomorphism | Gene mutations | Epilepsy | Development and progression | Genetic aspects | Research | Risk factors | Report
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2. Full Text Kepler-47: A Transiting Circumbinary Multiplanet System
by Jerome A. Orosz and William F. Welsh and Joshua A. Carter and Daniel C. Fabrycky and William D. Cochran and Michael Endl and Eric B. Ford and Nader Haghighipour and Phillip J. MacQueen and Tsevi Mazeh and Roberto Sanchis-Ojeda and Donald R. Short and Guillermo Torres and Eric Agol and Lars A. Buchhave and Laurance R. Doyle and Howard Isaacson and Jack J. Lissauer and Geoffrey W. Marcy and Avi Shporer and Gur Windmiller and Thomas Barclay and Alan P. Boss and Bruce D. Clarke and Jonathan Fortney and John C. Geary and Matthew J. Holman and Daniel Huber and Jon M. Jenkins and Karen Kinemuchi and Ethan Kruse and Darin Ragozzine and Dimitar Sasselov and Martin Still and Peter Tenenbaum and Kamal Uddin and Joshua N. Winn and David G. Koch and William J. Borucki
Science, ISSN 0036-8075, 9/2012, Volume 337, Issue 6101, pp. 1511 - 1514
We report the detection of Kepler-47, a system consisting of two planets orbiting around an eclipsing pair of stars. The inner and outer planets have radii 3.0... 
Terrestrial planets | Planets | Extrasolar planets | Binary stars | REPORTS | Keplerian orbits | Stellar orbits | Astronomical transits | Planetary orbits | Inner planets | Outer planets | PLANETS | HIERARCHICAL TRIPLE | STARSPOTS | SPIN-ORBIT ALIGNMENT | MULTIDISCIPLINARY SCIENCES | Discovery and exploration | Observations | Identification and classification | Planetary systems | Space telescopes | Orbits | Double stars | Astronomy | Water | Planet detection | Stars | Milky Way Galaxy
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3. Full Text Stellar Spin-Orbit Misalignment in a Multiplanet System
by Daniel Huber and Joshua A. Carter and Mauro Barbieri and Andrea Miglio and Katherine M. Deck and Daniel C. Fabrycky and Benjamin T. Montet and Lars A. Buchhave and William J. Chaplin and Saskia Hekker and Josefina Montalbán and Roberto Sanchis-Ojeda and Sarbani Basu and Timothy R. Bedding and Tiago L. Campante and Jørgen Christensen-Dalsgaard and Yvonne P. Elsworth and Dennis Stello and Torben Arentoft and Eric B. Ford and Ronald L. Gilliland and Rasmus Handberg and Andrew W. Howard and Howard Isaacson and John Asher Johnson and Christoffer Karoff and Steven D. Kawaler and Hans Kjeldsen and David W. Latham and Mikkel N. Lund and Mia Lundkvist and Geoffrey W. Marcy and Travis S. Metcalfe and Victor Silva Aguirre and Joshua N. Winn
Science, ISSN 0036-8075, 10/2013, Volume 342, Issue 6156, pp. 331 - 334
Stars hosting hot Jupiters are often observed to have high obliquities, whereas stars with multiple coplanar planets have been seen to have low obliquities.... 
Planets | Stars | REPORTS | Keplerian orbits | Star systems | Radial velocity | Stellar orbits | Astronomical transits | Planetary orbits | Inner planets | Astronomy | FNWI top publication | OBLIQUITIES | MODES | TRANSIT | ALIGNMENT | HOT STARS | MULTIDISCIPLINARY SCIENCES | EXOPLANETARY SYSTEMS | RED-GIANT STARS | PLANETARY SYSTEM | KEPLER | ROTATION AXIS | Observations | Extrasolar planets | Planetary systems | Orbits | Astrophysics | Solar systems | Stars & galaxies | Planes | Misalignment | Diagnostic systems | Dynamical systems
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4. Full Text In Vivo 3D Analysis of Thoracic Kinematics: Changes in Size and Shape During Breathing and Their Implications for Respiratory Function in Recent Humans and Fossil Hominins
by Bastir, Markus and García‐Martínez, Daniel and Torres‐Tamayo, Nicole and Sanchis‐Gimeno, Juan Alberto and O'Higgins, Paul and Utrilla, Cristina and Torres Sánchez, Isabel and García Río, Francisco
The Anatomical Record, ISSN 1932-8486, 02/2017, Volume 300, Issue 2, pp. 255 - 264
ABSTRACT The human ribcage expands and contracts during respiration as a result of the interaction between the morphology of the ribs, the costo‐vertebral... 
thorax | rib cage | kinematics | breathing | ANATOMY & MORPHOLOGY | ALLOMETRY | EXERCISE | DIMENSIONS | MECHANICS | MORPHOMETRICS | RELEVANCE | DISEASE | MORPHOLOGY | SEXUAL-DIMORPHISM | Respiratory Muscles - diagnostic imaging | Respiratory Muscles - physiology | Humans | Middle Aged | Biomechanical Phenomena - physiology | Male | Tomography, X-Ray Computed | Thorax - physiology | Diaphragm - diagnostic imaging | Diaphragm - physiology | Diaphragm - anatomy & histology | Thorax - anatomy & histology | Ribs - diagnostic imaging | Animals | Thorax - diagnostic imaging | Adult | Female | Ribs - anatomy & histology | Aged | Respiration | Hominidae | Fossil hominids | Kinematics
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5. Full Text Improved PCR method for the creation of saturation mutagenesis libraries in directed evolution: application to difficult-to-amplify templates
by Sanchis, Joaquin and Fernández, Layla and Carballeira, J Daniel and Drone, Jullien and Gumulya, Yosephine and Höbenreich, Horst and Kahakeaw, Daniel and Kille, Sabrina and Lohmer, Renate and Peyralans, Jérôme J.-P and Podtetenieff, John and Prasad, Shreenath and Soni, Pankaj and Taglieber, Andreas and Wu, Sheng and Zilly, Felipe E and Reetz, Manfred T
Applied Microbiology and Biotechnology, ISSN 0175-7598, 11/2008, Volume 81, Issue 2, pp. 387 - 397
Saturation mutagenesis constitutes a powerful method in the directed evolution of enzymes. Traditional protocols of whole plasmid amplification such as... 
Biotechnology | Chemistry | Directed evolution | Microbiology | Microbial Genetics and Genomics | Megaprimer | Saturation mutagenesis | PCR | Difficult-to-amplify templates | Antiprimer | SPACE | LABORATORY EVOLUTION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | SEQUENCE | GENES | ENANTIOSELECTIVE ENZYMES | MUTATIONS | PSEUDOMONAS-AERUGINOSA LIPASE | Candida - genetics | Directed Molecular Evolution - methods | NADPH-Ferrihemoprotein Reductase - genetics | Gene Library | Bacterial Proteins - genetics | Aspergillus niger - enzymology | Candida - enzymology | Epoxide Hydrolases - genetics | Polymerase Chain Reaction - methods | Mutagenesis | Pseudomonas aeruginosa - genetics | Aspergillus niger - genetics | Plasmids | Pseudomonas aeruginosa - enzymology | Bacillus megaterium - enzymology | Cytochrome P-450 Enzyme System - genetics | Bacillus megaterium - genetics | Lipase - genetics | Studies | Index Medicus | Life Sciences | Biochemistry, Molecular Biology
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6. Full Text Kepler-62: A Five-Planet System with Planets of 1.4 and 1.6 Earth Radii in the Habitable Zone
by William J. Borucki and Eric Agol and Francois Fressin and Lisa Kaltenegger and Jason Rowe and Howard Isaacson and Debra Fischer and Natalie Batalha and Jack J. Lissauer and Geoffrey W. Marcy and Daniel Fabrycky and Jean-Michel Désert and Stephen T. Bryson and Thomas Barclay and Fabienne Bastien and Alan Boss and Erik Brugamyer and Lars A. Buchhave and Chris Burke and Douglas A. Caldwell and Josh Carter and David Charbonneau and Justin R. Crepp and Jørgen Christensen-Dalsgaard and Jessie L. Christiansen and David Ciardi and William D. Cochran and Edna DeVore and Laurance Doyle and Andrea K. Dupree and Michael Endl and Mark E. Everett and Eric B. Ford and Jonathan Fortney and Thomas N. Gautier and John C. Geary and Alan Gould and Michael Haas and Christopher Henze and Andrew W. Howard and Steve B. Howell and Daniel Huber and Jon M. Jenkins and Hans Kjeldsen and Rea Kolbl and Jeffery Kolodziejczak and David W. Latham and Brian L. Lee and Eric Lopez and Fergal Mullally and Jerome A. Orosz and Andrej Prsa and Elisa V. Quintana and Roberto Sanchis-Ojeda and Dimitar Sasselov and Shawn Seader and Avi Shporer and Jason H. Steffen and Martin Still and Peter Tenenbaum and Susan E. Thompson and Guillermo Torres and Joseph D. Twicken and William F. Welsh and Joshua N. Winn
Science, ISSN 0036-8075, 5/2013, Volume 340, Issue 6132, pp. 587 - 590
We present the detection of five planets—Kepler-62b, c, d, e, and f—of size 1.31, 0.54, 1.95, 1.61 and 1.41 Earth radii (R ⊕ ), orbiting a K2V star at periods... 
Earth | Planetary temperature | Planets | Extrasolar planets | Average linear density | Stars | REPORTS | Light curves | Planetary orbits | Stellar radii | Planetary systems | SUN-LIKE STAR | CANDIDATES | SCIENCE | TRANSITING PLANET | MULTIDISCIPLINARY SCIENCES | MASS | Models, Theoretical | Water | Exobiology | Extraterrestrial Environment | Stars, Celestial | Planetary mapping | Observations | Atmosphere | Methods | Solar systems | Solid surfaces | Planet detection | Space telescopes | Orbits | Physics - Earth and Planetary Astrophysics
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7. Full Text Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
by Farmery, James H. R and Smith, Mike L and Lynch, Andy G and Huissoon, Aarnoud and Furnell, Abigail and Mead, Adam and Levine, Adam P and Manzur, Adnan and Thrasher, Aian and Greenhalgh, Alan and Parker, Alasdair and Sanchis-Juan, Alba and Richter, Alex and Gardham, Alice and Lawrie, Allan and Sohal, Aman and Creaser-Myers, Amanda and Frary, Amy and Greinacher, Aneas and Themistocleous, Aneas and Peacock, Anew J and Marshall, Anew and Mumford, Anew and Rice, Anew and Webster, Anew and Brady, Angie and Koziell, Ania and Manson, Ania and Chana, Anita and Hensiek, Anke and Veld, Anna Huis In't and Maw, Anna and Kelly, Anne M and Moore, Anthony and Vonk Noordegraaf, Anton and Attwood, Antony and Herwadkar, Archana and Ghofrani, Ardi and Houweling, Arjan C and Girerd, Barbara and Furie, Bruce and Treacy, Carmen M and Millar, Carolyn M and Sewell, Carrock and Roughley, Catherine and Titterton, Catherine and Williamson, Catherine and Hadinnapola, Charaka and Deshpande, Charu and Kuijpers, Taco and NIHR BioResource-Rare Dis and NIHR BioResource - Rare Diseases
Scientific reports, ISSN 2045-2322, 2018, Volume 8, Issue 1, pp. 1300 - 17
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The... 
MULTIDISCIPLINARY SCIENCES | DISEASE | Gene Expression | Liver Neoplasms - genetics | Humans | Mesenchymal Stromal Cells - metabolism | Genotype | Telomere Homeostasis | Whole Genome Sequencing | Telomere - chemistry | Mesenchymal Stromal Cells - cytology | Algorithms | Telomerase - genetics | Carcinoma, Hepatocellular - genetics | Ploidies | Carcinoma, Hepatocellular - pathology | Liver Neoplasms - metabolism | Liver Neoplasms - pathology | Telomerase - metabolism | Primary Cell Culture | Induced Pluripotent Stem Cells | Carcinoma, Hepatocellular - metabolism | Telomeres | Ploidy | Computer applications | Data processing | Genomes | Chromosomes | Telomerase | Genotypes | Cancer
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8. Full Text Some questions about Zadeh's extension on metric spaces
by Jardón, Daniel and Sánchez, Iván and Sanchis, Manuel
Fuzzy Sets and Systems, ISSN 0165-0114, 01/2020, Volume 379, pp. 115 - 124
For a continuous function on a Hausdorff space , we prove that for each and , where is the Zadeh's extension of . By means of this result, some results on... 
Separability | Semiflow | Fuzzy number | Skorokhod metric | Hutchinson operator | Zadeh's extension | Contraction | MATHEMATICS, APPLIED | STATISTICS & PROBABILITY | COMPUTER SCIENCE, THEORY & METHODS
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9. Full Text Performance Tradeoffs for Networked Jump Observer-Based Fault Diagnosis
by Dolz, Daniel and Penarrocha, Ignacio and Sanchis, Roberto
IEEE Transactions on Signal Processing, ISSN 1053-587X, 05/2015, Volume 63, Issue 10, pp. 2692 - 2703
In this paper, we address the fault diagnosis problem for discrete-time multi-sensor systems over communication networks with measurement dropouts. We use the... 
Fault diagnosis | time to detect faults | false alarm rate | Fault detection | Observers | Vectors | Dropouts | Sensors | Noise measurement | jump linear system | fault diagnosis | DELAYED MEASUREMENTS | MISSING MEASUREMENTS | CONTROL-SYSTEMS SUBJECT | STATE | DETECTION FILTER DESIGN | COMMUNICATION | ENGINEERING, ELECTRICAL & ELECTRONIC | Information networks | Markov processes | Random noise theory | Computer networks | Research | False alarms
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