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1. Full Text The spectrum of intermediate SCN8A‐related epilepsy
by Johannesen, Katrine M and Gardella, Elena and Encinas, Alejandra C and Lehesjoki, Anna‐Elina and Linnankivi, Tarja and Petersen, Michael B and Lund, Ida Charlotte Bay and Blichfeldt, Susanne and Miranda, Maria J and Pal, Deb K and Lascelles, Karine and Procopis, Peter and Orsini, Alessandro and Bonuccelli, Alice and Giacomini, Thea and Helbig, Ingo and Fenger, Christina D and Sisodiya, Sanjay M and Hernandez‐Hernandez, Laura and Krithika, Sundararaman and Rumple, Melissa and Masnada, Silvia and Valente, Marialuisa and Cereda, Cristina and Giordano, Lucio and Accorsi, Patrizia and Bürki, Sarah E and Mancardi, Margherita and Korff, Christian and Guerrini, Renzo and Spiczak, Sarah and Hoffman‐Zacharska, Dorota and Mazurczak, Tomasz and Coppola, Antonietta and Buono, Salvatore and Vecchi, Marilena and Hammer, Michael F and Varesio, Costanza and Veggiotti, Pierangelo and Lal, Dennis and Brünger, Tobias and Zara, Federico and Striano, Pasquale and Rubboli, Guido and Møller, Rikke S
Epilepsia, ISSN 0013-9580, 05/2019, Volume 60, Issue 5, pp. 830 - 844
Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to... 
epilepsy | epilepsy genetics | voltage‐gated sodium channels | SCN8A | intellectual disability | PURKINJE NEURONS | DE-NOVO | PHENOTYPIC SPECTRUM | CLINICAL NEUROLOGY | FAMILY | ENCEPHALOPATHY | NA(V)1.6 | PATIENT | MUTATIONS | voltage-gated sodium channels | SODIUM-CHANNEL SCN8A | Epilepsy | Seizures (Medicine) | Phenotypes | Next-generation sequencing | Neurological complications | EEG | Encephalopathy | Cognitive ability | Sodium channels (voltage-gated) | Ataxia | Movement disorders | Seizures
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2. Full Text Understanding sex bias in autism spectrum disorder
by Donna M. Werling and Daniel H. Geschwind
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2013, Volume 110, Issue 13, pp. 4868 - 4869
COMMENTARIES | Autistic disorder | Etiology | Pervasive child development disorders | Medical genetics | Gender bias | Twin studies | Quantitative traits | Family members | Siblings | Phenotypic traits | RECURRENCE | DE-NOVO MUTATIONS | FAMILY-HISTORY | MULTIDISCIPLINARY SCIENCES | Autistic Disorder - genetics | Female | Male | Sex Characteristics | Quantitative Trait, Heritable | Humans | Index Medicus | Biological Sciences | Commentaries
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3. Full Text Use of Boronic Acid Disk Tests To Detect Extended- Spectrum β-Lactamases in Clinical Isolates of KPC Carbapenemase-Possessing Enterobacteriaceae
by Athanassios Tsakris and Aggeliki Poulou and Katerina Themeli-Digalaki and Evangelia Voulgari and Theodore Pittaras and Danai Sofianou and Spyros Pournaras and Dimitra Petropoulou
Journal of Clinical Microbiology, ISSN 0095-1137, 11/2009, Volume 47, Issue 11, pp. 3420 - 3426
Article Usage Stats Services JCM Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley... 
STRAINS | KLEBSIELLA-PNEUMONIAE CARBAPENEMASE | AEROGENES | CLOACAE | NEW-YORK-CITY | ESCHERICHIA-COLI | SEQUENCE TYPE 258 | MICROBIOLOGY | INHIBITOR | EMERGENCE | PHENOTYPIC DETECTION | Bacterial Proteins - antagonists & inhibitors | Enterobacteriaceae - enzymology | Enterobacteriaceae Infections - microbiology | Humans | Enzyme Inhibitors - pharmacology | Enterobacteriaceae - genetics | Enterobacteriaceae - isolation & purification | Bacterial Proteins - analysis | DNA, Bacterial - genetics | beta-Lactamases - genetics | beta-Lactamases - analysis | Diagnostic Errors | Sensitivity and Specificity | Enterobacteriaceae - drug effects | Anti-Bacterial Agents - pharmacology | beta-Lactamase Inhibitors | Microbial Sensitivity Tests - methods | Boronic Acids - pharmacology | Index Medicus | Bacteriology
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4. Full Text Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study
by Dyment, D.A and Tétreault, M and Beaulieu, C.L and Hartley, T and Ferreira, P and Chardon, J.W and Marcadier, J and Sawyer, S.L and Mosca, S.J and Innes, A.M and Parboosingh, J.S and Bulman, D.E and Schwartzentruber, J and Majewski, J and Tarnopolsky, M and Boycott, K.M and Care4Rare Canada and FORGE Canada Consortium
Clinical Genetics, ISSN 0009-9163, 07/2015, Volume 88, Issue 1, pp. 34 - 40
Whole‐exome sequencing ( WES ) has transformed our ability to detect mutations causing rare diseases. FORGE (Finding Of Rare disease GEnes ) and Care4Rare... 
whole‐exome sequencing | pediatric epilepsy | phenotypic spectrum | monogenic | Pediatric epilepsy | Phenotypic spectrum | Monogenic | Whole-exome sequencing | INTELLECTUAL DISABILITY | MOLECULAR-BIOLOGY | DISEASE | GENES | GENETICS & HEREDITY | MUTATIONS | whole-exome sequencing | REVEALS | Genetic Predisposition to Disease | Humans | Brain Diseases - genetics | Child, Preschool | Infant | Male | Exome | Phenotype | DNA Mutational Analysis | Pedigree | Adolescent | Adult | Epilepsy - genetics | Female | Retrospective Studies | Mutation | Child | Infant, Newborn | Pediatrics | Epilepsy in children | Medical research | Genetic disorders | Epilepsy | Index Medicus
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5. Full Text Identification of small molecule enzyme inhibitors as broad-spectrum anthelmintics
by Tyagi, Rahul and Elfawal, Mostafa A and Wildman, Scott A and Helander, Jon and Bulman, Christina A and Sakanari, Judy and Rosa, Bruce A and Brindley, Paul J and Janetka, James W and Aroian, Raffi V and Mitreva, Makedonka
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1 - 13
Targeting chokepoint enzymes in metabolic pathways has led to new drugs for cancers, autoimmune disorders and infectious diseases. This is also a cornerstone... 
LACTATE-DEHYDROGENASE | MAMMALIAN TARGET | MALATE-DEHYDROGENASE | DIHYDROOROTATE DEHYDROGENASE | FASCIOLA-HEPATICA | PLASMODIUM-FALCIPARUM | MULTIDISCIPLINARY SCIENCES | METHIONINE SYNTHASE | HIGHLY POTENT | DRUG TARGET | GENOME ANNOTATION | Enzymes | Azoles | Infectious diseases | Intestine | Amino acids | Metabolic pathways | Parasites | Phylogeny | Autoimmune diseases | Fecundity
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6. Full Text A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B‐related disorders
by Marangi, Giuseppe and Di Giacomo, Marilena C and Lattante, Serena and Orteschi, Daniela and Patrizi, Sara and Doronzio, Paolo N and Riviello, Francesco N and Vaisfeld, Alessandro and Frangella, Silvia and Zollino, Marcella
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 455 - 459
KAT6B sequence variants have been identified in both patients with the Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and in the genitopatellar syndrome... 
skeletal anomalies | related disorders | KAT6B | focused exome sequencing | KAT6B-related disorders | RETARDATION | GENETICS & HEREDITY | HISTONE ACETYLTRANSFERASE | MUTATIONS | PHENOTYPIC SPECTRUM | Patella - physiopathology | Scrotum - abnormalities | Scrotum - physiopathology | Exons | Humans | Joint Instability - genetics | Histone Acetyltransferases - genetics | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Female | Psychomotor Disorders - physiopathology | Urogenital Abnormalities - physiopathology | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Kidney - physiopathology | Haploinsufficiency - genetics | Genetic Association Studies | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Phenotype | Kidney - abnormalities | Alleles | Heart Defects, Congenital - physiopathology | Mutation | Joint Instability - physiopathology | Blepharophimosis - physiopathology | Urogenital Abnormalities - genetics | Medical genetics | Intellectual disabilities | Genotypes | Haploinsufficiency | Index Medicus
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7. Full Text Evaluation of a diagnostic flow chart for detection and confirmation of extended spectrum β-lactamases (ESBL) in Enterobacteriaceae
by Polsfuss, S and Bloemberg, G.V and Giger, J and Meyer, V and Böttger, E.C and Hombach, M
Clinical Microbiology and Infection, ISSN 1198-743X, 12/2012, Volume 18, Issue 12, pp. 1194 - 1204
This study aimed to develop a modular, diagnostic algorithm for extended spectrum β-lactamase (ESBL) detection in . Clinical strains ( = 2518) were screened... 
flow chart | ESBL | β-lactamase | β‐lactamase | Flow chart | AMPC | INFECTIOUS DISEASES | VITEK 2 SYSTEM | DNA MICROARRAY | ESCHERICHIA-COLI | MICROBIOLOGY | PREVALENCE | PHENOTYPIC DETECTION | CHANGING EPIDEMIOLOGY | RESISTANCE | beta-lactamase | KLEBSIELLA-PNEUMONIAE | RAPID DETECTION | Microbiological Techniques - methods | Enterobacteriaceae - enzymology | Enterobacteriaceae Infections - microbiology | Humans | Enterobacteriaceae - genetics | Genotype | Enterobacteriaceae - isolation & purification | Sequence Analysis, DNA | beta-Lactamases - secretion | Phenotype | beta-Lactams - pharmacology | Algorithms | DNA, Bacterial - genetics | Sensitivity and Specificity | Anti-Bacterial Agents - pharmacology | Index Medicus
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8. Full Text Emerging Perils of Extended Spectrum β -Lactamase Producing Enterobacteriaceae Clinical Isolates in a Teaching Hospital of Nepal
by Parajuli, Narayan Prasad and Maharjan, Pooja and Joshi, Govardhan and Khanal, Puspa Raj
BioMed Research International, ISSN 2314-6133, 2016, Volume 2016, pp. 1782835 - 7
Introduction. Infections due to extended spectrum beta-lactamase producing Enterobacteriaceae are on the rise. They pose serious public health problems due to... 
CTX-M | MOLECULAR CHARACTERIZATION | MEDICINE, RESEARCH & EXPERIMENTAL | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | ESCHERICHIA-COLI | RESISTANCE | INFECTION | HEALTH | KATHMANDU | KLEBSIELLA-PNEUMONIAE | PHENOTYPIC DETECTION | EPIDEMIOLOGY | Escherichia coli - drug effects | Humans | Middle Aged | Male | Enterobacteriaceae - isolation & purification | Klebsiella - isolation & purification | Microbial Sensitivity Tests | Young Adult | Anti-Bacterial Agents - therapeutic use | beta-Lactamases - genetics | Hospitals, Teaching | Adult | Female | Nepal | Escherichia coli Infections - drug therapy | Klebsiella Infections - drug therapy | Cross-Sectional Studies | Klebsiella - genetics | Enterobacteriaceae Infections - microbiology | Bacterial Proteins - genetics | Enterobacteriaceae - genetics | Escherichia coli Infections - microbiology | Genotype | Klebsiella Infections - microbiology | Klebsiella - drug effects | Escherichia coli - genetics | Escherichia coli - isolation & purification | Enterobacteriaceae - drug effects | Drug Resistance, Multiple, Bacterial - genetics | Enterobacteriaceae Infections - drug therapy | Index Medicus
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9. Full Text Autism Spectrum Disorders and Other Mental Health Problems: Exploring Etiological Overlaps and Phenotypic Causal Associations
by Tick, Beata, PhD|Colvert, Emma, PhD|McEwen, Fiona, PhD|Stewart, Catherine, PhD|Woodhouse, Emma, BSc|Gillan, Nicola, BSc|Hallett, Victoria, PhD|Lietz, Stephanie, PhD|Garnett, Tracy, DClinPsych|Simonoff, Emily, MD|Ronald, Angelica, PhD|Bolton, Patrick, MD|Happé, Francesca, PhD|Rijsdijk, Frühling, PhD
Journal of the American Academy of Child & Adolescent Psychiatry, ISSN 0890-8567, 2016, Volume 55, Issue 2, pp. 106 - 113.e4
Objective Recent studies have highlighted the impact of coexisting mental health problems in autism spectrum disorders (ASD). No twin studies to date have... 
Pediatrics | Psychiatry | behavioral genetics | autism spectrum disorders | comorbidity | mental health | Key words autism spectrum disorders | NATIONWIDE TWIN | PSYCHIATRY | PSYCHOLOGY, DEVELOPMENTAL | PREVALENCE | COMMUNITY-BASED TWIN | CHILDREN | LONGITUDINAL TWIN | MODEL SELECTION | PSYCHIATRIC-DISORDERS | PEDIATRICS | GENETIC INFLUENCES | INTERNALIZING TRAITS | Twins - genetics | Psychomotor Agitation - genetics | Comorbidity | Humans | Psychomotor Agitation - psychology | Child Development Disorders, Pervasive - etiology | Genetics, Behavioral | Male | Mental Health | Autism Spectrum Disorder - psychology | Emotions | Psychomotor Agitation - etiology | Twins - psychology | Phenotype | Child Development Disorders, Pervasive - genetics | Adolescent | Attention Deficit Disorder with Hyperactivity - etiology | Female | Autism Spectrum Disorder - etiology | Child | Behavior genetics | Analysis | Pervasive developmental disorders | Phenotypic plasticity | Causes of | Psychological research | Genetic aspects | Research | Diagnosis | Mental disorders | Hyperactivity | Bias | Health problems | Mental health | Environmental aspects | Identification | Coexistence | Confusion | Twin studies | Genotype & phenotype | Conduct disorders | Genetics | Genetic factors | Mental illness | Phenotypes | Fitting | Autistic spectrum disorders | Environmental factors | Autistic children | Autism | Causality | Twins | Psychiatric disorders | Symptoms | Index Medicus
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10. Full Text Biogeographic constraints on the world-wide leaf economics spectrum
by J. Mason Heberling and Jason D. Fridley
Global Ecology and Biogeography, ISSN 1466-822X, 11/2012, Volume 21, Issue 11/12, pp. 1137 - 1146
Aim: The world-wide leaf economic spectrum (LES) describes tight coordination of leaf traits across global floras, reported to date as being largely... 
Tropical regions | Geographic regions | Flora | Tradeoffs | Plant ecology | Ecological invasion | Biogeography | Evolution | Plants | Phenotypic traits | functional trait variation | plant metabolic efficiency | photosynthetic rate | leaf respiration | Convergent evolution | plant strategy theory | leaf nitrogen | leaf lifespan | Leaf respiration | Photosynthetic rate | Plant metabolic efficiency | Leaf lifespan | Leaf nitrogen | Functional trait variation | Plant strategy theory | RESOURCE-USE EFFICIENCY | CONSTRUCTION COST | PATTERNS | SOUTHERN-HEMISPHERE | NUTRIENT | STRATEGIES | INVASIVE PLANTS | GEOGRAPHY, PHYSICAL | TRAIT RELATIONSHIPS | ALIEN PLANTS | CONVERGENCE | ECOLOGY | Economic aspects | Photosynthesis | Rates of return | Allometry
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11. Full Text Phenotypic characterization and whole genome analysis of extended-spectrum beta- lactamase-producing bacteria isolated from dogs in Germany
by Boehmer, T and Vogler, AJ and Thomas, A and Sauer, S and Hergenroether, M and Straubinger, RK and Birdsell, D and Keim, P and Sahl, JW and Williamson, CHD and Riehm, JM
PLOS ONE, ISSN 1932-6203, 10/2018, Volume 13, Issue 10, pp. e0206252 - e0206252
Asymptomatic colonization with extended-spectrum beta-lactamase (ESBL) producing Enterobacteriaceae has been described for humans, various mammal species, and... 
MOLECULAR CHARACTERIZATION | COMPANION ANIMALS | CTX-M | CATS | RESISTANT ESCHERICHIA-COLI | MULTIDISCIPLINARY SCIENCES | BLAST SCORE RATIO | SEQUENCE | HIGH PREVALENCE | ANTIMICROBIAL RESISTANCE | ENTEROBACTERIACEAE | Drug resistance in microorganisms | Genetic aspects | Research | Nucleotide sequencing | Escherichia coli | DNA sequencing | Laboratories | Communities | Amides | Genomes | Single-nucleotide polymorphism | β-Lactamase | Phylogeny | Veterinary medicine | Drug resistance | Antiinfectives and antibacterials | Epidemiology | Gene sequencing | E coli | Farms | Bacteria | Feces | Deoxyribonucleic acid--DNA | Bacterial infections | Nucleotide sequence | β-Lactam antibiotics | Birds | Antimicrobial agents | Zoonoses | Infectious diseases | Antibiotics | Surveillance | Correlation analysis | Dogs | Antimicrobial resistance | Multilocus sequence typing | Colonization | Methods | Index Medicus | Deoxyribonucleic acid | DNA
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12. Full Text Spectrum of GABA(A) receptor variants in epilepsy
by Maljevic, S and Moller, RS and Reid, CA and Perez-Palma, E and Lal, D and May, P and Lerche, H
CURRENT OPINION IN NEUROLOGY, ISSN 1350-7540, 04/2019, Volume 32, Issue 2, pp. 183 - 190
Purpose of review Recent publications point to an increasingly important role of variants in genes encoding GABA(A) receptor subunits associated with both... 
GABRA1 | neuronal inhibition | seizure | PROTEIN | GENERALIZED EPILEPSIES | CORTICAL INHIBITION | NEUROSCIENCES | PHENOTYPIC SPECTRUM | MOUSE MODELS | CLINICAL NEUROLOGY | ABSENCE EPILEPSY | exome sequencing | genetics | electrophysiology | MUTATION | GENES | SUBUNIT
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13. Full Text Multidrug resistant, extended spectrum β-lactamase (ESBL)-producing Escherichia coli isolated from a dairy farm
by Ibrahim, Delveen R and Dodd, Christine E. R and Stekel, Dov J and Ramsden, Stephen J and Hobman, Jon L
FEMS Microbiology Ecology, ISSN 0168-6496, 04/2016, Volume 92, Issue 4, pp. fiw013 - fiw013
Escherichia coli strains were isolated from a single dairy farm as a sentinel organism for the persistence of antibiotic resistance genes in the farm... 
Cattle slurry | Escherichia coli | Extended spectrum beta-lactamase resistance | Multidrug resistance | cattle slurry | multidrug resistance | AMPC | RISK-FACTORS | extended spectrum beta-lactamase resistance | ANTIBIOTIC-RESISTANCE | MICROBIOLOGY | ANTIMICROBIAL RESISTANCE | PHENOTYPIC DETECTION | CTX-M | GRAM-NEGATIVE BACTERIA | GENES | FOOD-PRODUCING ANIMALS | KLEBSIELLA-PNEUMONIAE | Escherichia coli - enzymology | Bacterial Proteins - genetics | Genotype | Microbial Sensitivity Tests | Feces - microbiology | Interspersed Repetitive Sequences - genetics | Animals | beta-Lactamases - genetics | Cattle | Escherichia coli - genetics | Escherichia coli - isolation & purification | Dairying | Polymerase Chain Reaction | Escherichia coli Proteins - genetics | Ampicillin - pharmacology | Anti-Bacterial Agents - pharmacology | Drug Resistance, Multiple, Bacterial - genetics | Cephalosporins - pharmacology | Index Medicus
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14. Full Text Developmental trajectories of restricted and repetitive behaviors and interests in children with autism spectrum disorders
by Richler, Jennifer and Huerta, Marisela and Bishop, Somer L and Lord, Catherine
Development and Psychopathology, ISSN 0954-5794, 2/2010, Volume 22, Issue 1, pp. 55 - 69
This study examined how restricted and repetitive behaviors and interests (RRBs) developed over time in it sample of children with autism spectrum disorders... 
DIAGNOSTIC-OBSERVATION-SCHEDULE | INTERVIEW | PHENOTYPIC HOMOGENEITY | PREDICTORS | PSYCHOLOGY, DEVELOPMENTAL | PREVALENCE | ASSOCIATION | AGE | Severity of Illness Index | Age Factors | Compulsive Behavior - psychology | Intelligence | Humans | Child, Preschool | Male | Psychometrics | Neuropsychological Tests | Child Development Disorders, Pervasive - psychology | Social Behavior | Child Development Disorders, Pervasive - diagnosis | Compulsive Behavior - diagnosis | Cognition - physiology | Female | Child | Longitudinal Studies | Autism | Factor analysis | Sensorimotor system | Cognitive ability | Child psychology | Behavior | Children | Age | Children & youth | Child & adolescent psychiatry | Index Medicus | restricted and repetitive behaviors | development | autism spectrum disorders
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