Non-typhoidal, Non-paratyphoidal Salmonella Species Causing Sacroiliitis and Pyomyositis in a Healthy 19-Year-Old Athlete

por Narala, Bhavya, Suhail, Maham, Leelaruban, Vishnuveni, Ndzelen, Laura, Mbome, Yolande, Saverimuttu, Jessie
Publicado 2021

Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

por Heckman, Laura Dean, Chahrour, Maria H, Zoghbi, Huda Y
Publicado 2014

Sequencing and Annotation of the Genome of Mycobacterium tuberculosis MYC004, a Strain Causing Meningitis in Mexico

por Guillén-Nepita, Ana Laura, Negrete-Paz, Andrea Monserrat, Vázquez-Marrufo, Gerardo, Cruz-Hernández, Andrés, Fresia, Pablo, Naya, Hugo, Vázquez-Garcidueñas, Ma Soledad
Publicado 2018

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

por Hoytema van Konijnenburg, Eva M. M., Wortmann, Saskia B., Koelewijn, Marina J., Tseng, Laura A., Houben, Roderick, Stöckler-Ipsiroglu, Sylvia, Ferreira, Carlos R., van Karnebeek, Clara D. M.
Publicado 2021

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

por Kytövuori, Laura, Kärppä, Mikko, Tuominen, Hannu, Uusimaa, Johanna, Saari, Markku, Hinttala, Reetta, Majamaa, Kari
Publicado 2017

Molecular Mechanisms of Colistin Resistance in Klebsiella pneumoniae Causing Bacteremia from India—A First Report

por Pragasam, Agila K., Shankar, Chaitra, Veeraraghavan, Balaji, Biswas, Indranil, Nabarro, Laura E. B., Inbanathan, Francis Y., George, Biju, Verghese, Santhosh
Publicado 2017

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly

por Elli, Francesca Marta, Mattinzoli, Deborah, Lucca, Camilla, Piu, Matteo, Maffini, Maria A., Costanza, Jole, Fontana, Laura, Santaniello, Carlo, Forino, Concetta, Milani, Donatella, Bonati, Maria Teresa, Secco, Andrea, Gastaldi, Roberto, Alfieri, Carlo, Messa, Piergiorgio, Miozzo, Monica, Arosio, Maura, Mantovani, Giovanna
Publicado 2022

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

por Warmerdam, Hilde A. G., Termeulen-Ferreira, Elise A., Tseng, Laura A., Lee, Jessica Y., van Eeghen, Agnies M., Ferreira, Carlos R., van Karnebeek, Clara D. M.
Publicado 2020

Definitive Hosts of Versteria Tapeworms (Cestoda: Taeniidae) Causing Fatal Infection in North America

por Lee, Laura M., Wallace, Roberta S., Clyde, Victoria L., Gendron-Fitzpatrick, Annette, Sibley, Samuel D., Stuchin, Margot, Lauck, Michael, O’Connor, David H., Nakao, Minoru, Lavikainen, Antti, Hoberg, Eric P., Goldberg, Tony L.
Publicado 2016

Lens-specific βA3/A1-conditional knockout mice: Phenotypic characteristics and calpain activation causing protein degradation and insolubilization

por Joseph, Roy, Robinson, Michael L., Lambert, Laura, Srivastava, Om P.
Publicado 2023

Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency

por Zanatta, Laura, Biscaro, Francesca, Bresolin, Silvia, Marzaro, Maurizio, Sarcognato, Samantha, Cataldo, Ivana, Marzollo, Antonio, Martelossi, Stefano
Publicado 2022

Phenotypes induced by NM causing α-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes

por Vandamme, Drieke, Lambert, Ellen, Waterschoot, Davy, Tondeleir, Davina, Vandekerckhove, Joël, Machesky, Laura M, Constantin, Bruno, Rommelaere, Heidi, Ampe, Christophe
Publicado 2009

A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA(2) in a Vietnamese Heterozygote

por Pirastru, Monica, Mereu, Paolo, Nguyen, Chau Quynh, Nguyen, Nhan Viet, Nguyen, Thang Duy, Manca, Laura
Publicado 2017

Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome

por Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K., Koopmann, Tamara T., Hoffer, Mariette J. V., McDonald, Kimberly, Hendon, Laura G., Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, Brunetti‐Pierri, Nicola
Publicado 2022

Hamatospiculum flagellispiculosum (Nematoda: Diplotriaenidae) causing severe disease in a new host from Argentine Patagonia: Campephilus magellanicus (Aves: Picidae)

por Casalins, Laura, Ibáñez Molina, Mora, Wainer Gullo, Mariana, Brugni, Norma, Ortiz, Gala, Ojeda, Valeria
Publicado 2018

Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks

por Rucco, Rosaria, Liparoti, Marianna, Jacini, Francesca, Baselice, Fabio, Antenora, Antonella, De Michele, Giuseppe, Criscuolo, Chiara, Vettoliere, Antonio, Mandolesi, Laura, Sorrentino, Giuseppe, Sorrentino, Pierpaolo
Publicado 2019

Genomic Characterization of a Nalidixic Acid-Resistant Salmonella Enteritidis Strain Causing Persistent Infections in Broiler Chickens

por Walker, Grayson K., Suyemoto, M. Mitsu, Hull, Dawn M., Gall, Sesny, Jimenez, Fernando, Chen, Laura R., Thakur, Siddhartha, Crespo, Rocio, Borst, Luke B.
Publicado 2021

Characterization of Salmonella enterica isolates causing bacteremia in Lima, Peru, using multiple typing methods

por Silva, Claudia, Betancor, Laura, García, Coralith, Astocondor, Lizeth, Hinostroza, Noemí, Bisio, Julieta, Rivera, Javier, Perezgasga, Lucía, Pérez Escanda, Victoria, Yim, Lucía, Jacobs, Jan, García-del Portillo, Francisco, Chabalgoity, José A., Puente, José L.
Publicado 2017

Molecular phylogeny of a novel human adenovirus type 8 strain causing a prolonged, multi-state keratoconjunctivitis epidemic in Germany

por Hage, Elias, Espelage, Werner, Eckmanns, Tim, Lamson, Daryl M., Pantó, Laura, Ganzenmueller, Tina, Heim, Albert
Publicado 2017

Comparative analyses of Legionella species identifies genetic features of strains causing Legionnaires’ disease

por Gomez-Valero, Laura, Rusniok, Christophe, Rolando, Monica, Neou, Mario, Dervins-Ravault, Delphine, Demirtas, Jasmin, Rouy, Zoe, Moore, Robert J, Chen, Honglei, Petty, Nicola K, Jarraud, Sophie, Etienne, Jerome, Steinert, Michael, Heuner, Klaus, Gribaldo, Simonetta, Médigue, Claudine, Glöckner, Gernot, Hartland, Elizabeth L, Buchrieser, Carmen
Publicado 2014