Diarrhea Etiology in a Pediatric Emergency Department: A Case Control Study

Por Denno, Donna M., Shaikh, Nurmohammad, Stapp, Jenny R., Qin, Xuan, Hutter, Carolyn M., Hoffman, Valerie, Mooney, Jody C., Wood, Kelly M., Stevens, Harold J., Jones, Robert, Tarr, Phillip I., Klein, Eileen J.
Publicado em 2012

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Por Power, Bradley, Ferreira, Carlos R., Chen, Dong, Zein, Wadih M., O’Brien, Kevin J., Introne, Wendy J., Stephen, Joshi, Gahl, William A., Huizing, Marjan, Malicdan, May Christine V., Adams, David R., Gochuico, Bernadette R.
Publicado no Orphanet J Rare Dis (2019)

The International Limits and Population at Risk of Plasmodium vivax Transmission in 2009

Por Guerra, Carlos A., Howes, Rosalind E., Patil, Anand P., Gething, Peter W., Van Boeckel, Thomas P., Temperley, William H., Kabaria, Caroline W., Tatem, Andrew J., Manh, Bui H., Elyazar, Iqbal R. F., Baird, J. Kevin, Snow, Robert W., Hay, Simon I.
Publicado em 2010

A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet’s disease in HLA-B*51 carriers

Por Takeuchi, Masaki, Ombrello, Michael J, Kirino, Yohei, Erer, Burak, Tugal-Tutkun, Ilknur, Seyahi, Emire, Özyazgan, Yilmaz, Watts, Norman, Gül, Ahmet, Kastner, Daniel L., Remmers, Elaine F
Publicado no Ann Rheum Dis (2016)

Epidemiology of neonatal group B streptococcal disease in the Netherlands before and after introduction of guidelines for prevention

Por Trijbels‐Smeulders, M, de Jonge, G A, Jong, P C M Pasker‐de, Gerards, L J, Adriaanse, A H, van Lingen, R A, Kollée, L A A
Publicado em 2007

Influenza Surveillance Among Children With Pneumonia Admitted to a District Hospital in Coastal Kenya, 2007–2010

Por Onyango, Clayton O., Njeru, Regina, Kazungu, Sidi, Achilla, Rachel, Bulimo, Wallace, Welch, Stephen R., Cane, Patricia A., Gunson, Rory N., Hammitt, Laura L., Scott, J. Anthony G., Berkley, James A., Nokes, D. James
Publicado em 2012

Paediatric Investigators Collaborative Network on Infections in Canada (PICNIC) study of aseptic meningitis

Por Lee, Bonita E, Chawla, Rupesh, Langley, Joanne M, Forgie, Sarah E, Al-Hosni, Mohammed, Baerg, Krista, Husain, Entesar, Strong, James, Robinson, Joan L, Allen, Upton, Law, Barbara J, Dobson, Simon, Davies, H Dele
Publicado em 2006

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

Por Al-Sannaa, Nouriya A., Bay, Luisa, Barbouth, Deborah S., Benhayoun, Youssef, Goizet, Cyril, Guelbert, Norberto, Jones, Simon A., Kyosen, Sandra Obikawa, Martins, Ana Maria, Phornphutkul, Chanika, Reig, Celia, Pleat, Rebecca, Fallet, Shari, Ivanovska Holder, Iva
Publicado no Orphanet J Rare Dis (2015)

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

Por Marcé-Grau, Anna, Dalton, James, López-Pisón, Javier, García-Jiménez, María Concepción, Monge-Galindo, Lorena, Cuenca-León, Ester, Giraldo, Jesús, Macaya, Alfons
Publicado no Orphanet J Rare Dis (2016)

FOXN1 deficient nude severe combined immunodeficiency

Por Rota, Ioanna A., Dhalla, Fatima
Publicado no Orphanet J Rare Dis (2017)

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Por Soreze, Yohan, Boutron, Audrey, Habarou, Florence, Barnerias, Christine, Nonnenmacher, Luc, Delpech, Hélène, Mamoune, Asmaa, Chrétien, Dominique, Hubert, Laurence, Bole-Feysot, Christine, Nitschke, Patrick, Correia, Isabelle, Sardet, Claude, Boddaert, Nathalie, Hamel, Yamina, Delahodde, Agnès, Ottolenghi, Chris, de Lonlay, Pascale
Publicado em 2013

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

Por Behlouli, Asma, Bonnet, Crystel, Abdi, Samia, Bouaita, Aïcha, Lelli, Andrea, Hardelin, Jean-Pierre, Schietroma, Cataldo, Rous, Yahia, Louha, Malek, Cheknane, Ahmed, Lebdi, Hayet, Boudjelida, Kamel, Makrelouf, Mohamed, Zenati, Akila, Petit, Christine
Publicado em 2014

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

Por Dorboz, Imen, Coutelier, Marie, Bertrand, Anne T, Caberg, Jean-Hubert, Elmaleh-Bergès, Monique, Lainé, Jeanne, Stevanin, Giovanni, Bonne, Gisèle, Boespflug-Tanguy, Odile, Servais, Laurent
Publicado no Orphanet J Rare Dis (2014)

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Por Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fattori, Fabiana, Fiorillo, Chiara, Guerrini, Renzo, Maggi, Lorenzo, Mercuri, Eugenio, Morani, Federica, Mora, Marina, Moro, Francesca, Pezzini, Ilaria, Picillo, Esther, Pinelli, Michele, Politano, Luisa, Rubegni, Anna, Sanseverino, Walter, Savarese, Marco, Striano, Pasquale, Torella, Annalaura, Trevisan, Carlo Pietro, Trovato, Rosanna, Zaraieva, Irina, Muntoni, Francesco, Nigro, Vincenzo, D’Amico, Adele, Santorelli, Filippo M.
Publicado no Orphanet J Rare Dis (2018)

2502. Host Susceptibility to Andes Hantavirus Infection Associates to a Single Nucleotide Polymorphism at the αVβ3 Integrin

Por Martinez-Valdebenito, Constanza, Ferres, Marcela, Corre, Nicole Le, Angulo, Jenniffer, Vial, Cecilia, Vial, Pablo, Mertz, Gregory, Valdivieso, Francisca, Galeno, Hector, Villagra, Eliecer, Vera, Lilian, Lagos, Natalia, Becerra, Natalia, Mora, Judith, Lopez-Lastra, Marcelo
Publicado no Open Forum Infect Dis (2018)