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Refinado por: assunto: Child, Preschool remover
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1
Multiple glycolytic enzymes are antigens also in biliary atresia
Multiple glycolytic enzymes are antigens also in biliary atresia
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Multiple glycolytic enzymes are antigens also in biliary atresia

Clemente, Maria Grazia ; Schwarz, Kathleen B. ; Antonucci, Roberto

Immunology letters, 2018-04, Vol.196, p.124-125 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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2
Effect of Fresh vs Standard-issue Red Blood Cell Transfusions on Multiple Organ Dysfunction Syndrome in Critically Ill Pediatric Patients: A Randomized Clinical Trial
Effect of Fresh vs Standard-issue Red Blood Cell Transfusions on Multiple Organ Dysfunction Syndrome in Critically Ill Pediatric Patients: A Randomized Clinical Trial
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Effect of Fresh vs Standard-issue Red Blood Cell Transfusions on Multiple Organ Dysfunction Syndrome in Critically Ill Pediatric Patients: A Randomized Clinical Trial

Spinella, Philip C ; Tucci, Marisa ; Fergusson, Dean A ; Lacroix, Jacques ; Hébert, Paul C ; Leteurtre, Stéphane ; Schechtman, Kenneth B ; Doctor, Allan ; Berg, Robert A ; Bockelmann, Tina ; Caro, J. Jaime ; Chiusolo, Fabrizio ; Clayton, Lucy ; Cholette, Jill M ; Guerra, Gonzalo Garcia ; Josephson, Cassandra D ; Menon, Kusum ; Muszynski, Jennifer A ; Nellis, Marianne E ; Sarpal, Amrita ; Schafer, Stephanie ; Steiner, Marie E ; Turgeon, Alexis F

JAMA : the journal of the American Medical Association, 2019-12, Vol.322 (22), p.2179-2190 [Periódico revisado por pares]

United States: American Medical Association

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3
Supine craniospinal irradiation in pediatric patients by proton pencil beam scanning
Supine craniospinal irradiation in pediatric patients by proton pencil beam scanning
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Supine craniospinal irradiation in pediatric patients by proton pencil beam scanning

Farace, Paolo ; Bizzocchi, Nicola ; Righetto, Roberto ; Fellin, Francesco ; Fracchiolla, Francesco ; Lorentini, Stefano ; Widesott, Lamberto ; Algranati, Carlo ; Rombi, Barbara ; Vennarini, Sabina ; Amichetti, Maurizio ; Schwarz, Marco

Radiotherapy and oncology, 2017-04, Vol.123 (1), p.112-118 [Periódico revisado por pares]

Ireland: Elsevier B.V

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4
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
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Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

Krude, Heiko ; Schütz, Barbara ; Biebermann, Heike ; von Moers, Arpad ; Schnabel, Dirk ; Neitzel, Heidi ; Tönnies, Holger ; Weise, Dagmar ; Lafferty, Antony ; Schwarz, Siegfried ; DeFelice, Mario ; von Deimling, Andreas ; van Landeghem, Frank ; DiLauro, Roberto ; Grüters, Annette

The Journal of clinical investigation, 2002-02, Vol.109 (4), p.475-480 [Periódico revisado por pares]

United States

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5
Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome
Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome
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Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome

Kamath, Binita M., MBBChir ; Chen, Zhen, MS ; Romero, Rene, MD ; Fredericks, Emily M., PhD ; Alonso, Estella M., MD ; Arnon, Ronen, MD ; Heubi, James, MD ; Hertel, Paula M., MD ; Karpen, Saul J., MD, PhD ; Loomes, Kathleen M., MD ; Murray, Karen F., MD ; Rosenthal, Philip, MD ; Schwarz, Kathleen B., MD ; Subbarao, Girish, MD ; Teckman, Jeffrey H., MD ; Turmelle, Yumirle P., MD ; Wang, Kasper S., MD ; Sherker, Averell H., MD ; Sokol, Ronald J., MD ; Magee, John C., MD

The Journal of pediatrics, 2015-08, Vol.167 (2), p.390-396.e3 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Montaño, Adriana M ; Lock-Hock, Ngu ; Steiner, Robert D ; Graham, Brett H ; Szlago, Marina ; Greenstein, Robert ; Pineda, Mercedes ; Gonzalez-Meneses, Antonio ; Çoker, Mahmut ; Bartholomew, Dennis ; Sands, Mark S ; Wang, Raymond ; Giugliani, Roberto ; Macaya, Alfons ; Pastores, Gregory ; Ketko, Anastasia K ; Ezgü, Fatih ; Tanaka, Akemi ; Arash, Laila ; Beck, Michael ; Falk, Rena E ; Bhattacharya, Kaustuv ; Franco, José ; White, Klane K ; Mitchell, Grant A ; Cimbalistiene, Loreta ; Holtz, Max ; Sly, William S

Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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7
Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study
Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study
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Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

Otte, Willem M ; Braun, Kees P J ; Aichholzer, Martin ; Amorim, Isabel ; Aparicio, Javier ; Aronica, Eleonora ; Beck, Jürgen ; Becker, Albert ; Bodi, Istvan ; Chassoux, Francine ; Chipaux, Mathilde ; Cloppenborg, Thomas ; Coras, Roland ; Cross, J Helen ; De Tisi, Jane ; Duncan, John S ; Elger, Christian ; Ernst, Katharina ; Feucht, Martha ; Gadze, Zeljka Petelin ; Jacques, Thomas S ; Jakovcevic, Antonia ; Jutila, Leena ; Kalina, Adam ; Koenig, Kristina ; Kudernatsch, Manfred ; Marusic, Petr ; Özkara, Çiğdem ; Pieper, Tom ; Pimentel, Jose ; Raicevic, Savo ; Rheims, Sylvain ; Ribeiro, Joana ; Rosenow, Felix ; Sales, Francisco ; Schaller, Karl Lothar ; Scholl, Theresa ; Schramm, Johannes ; Schulze-Bonhage, Andreas ; Sciot, Raf ; Seeck, Margitta ; Sokic, Dragoslav ; Specchio, Nicola ; Delgado, Rafael Toledano ; Van Paesschen, Wim ; Leijten, Frans ; Spliet, Wim GM ; Mühlebner, Angelika ; Fauser, Susanne ; Polster, Tilman ; Kalbhenn, Thilo ; McEvoy, Andrew ; Turak, Bares ; Ferrand-Sorbets, Sarah ; Scheiwe, Christian ; Tisdall, Martin ; Eltze, Christin ; Akkol, Serdar ; Deniz, Kaancan ; Holthausen, Hans ; Streichenberger, Nathalie ; Guenot, Marc ; Isnard, Jean ; Valentijn, Antonio ; Chang, Amanda ; Mullatti, Nandini ; Zamecnik, Josef ; Zarubova, Jana ; Tomasek, Martin ; Immonen, Arto ; Saarela, Anni ; Rauramaa, Tuomas ; Lobrinus, Johannes A ; Momjian, Shahan ; Lohr, Hannah ; Kroell, Judith ; Vermeulen, Lynn ; Samueli, Sharon ; Czech, Thomas ; Spreafico, Roberto ; Villani, Flavio ; Rossini, Laura ; Hermsen, Anke ; Belohlavkova, Anezka ; Benova, Barbora ; Hoogland, Govert ; Candela-Cantó, Santiago ; Ostrowsky-Coste, Karine ; Panagiotakaki, Eleni ; Montavont, Alexandra ; Kosal, Pascale Keo ; Gokce-Samar, Zeynep ; Milleret, Clara ; Sulentic, Vlatko ; Mrak, Goran ; CarfíPavia, Giusy ; Vojvodic, Nikola ; Ristic, Aleksandar ; Aledo-Serrano, Angel ; Garcia-Morales, Irene

Lancet neurology, 2020-09, Vol.19 (9), p.748-757 [Periódico revisado por pares]

England: Elsevier Ltd

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8
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Johnson, Katherine ; Bertoli, Marta ; Phillips, Lauren ; Töpf, Ana ; Van den Bergh, Peter ; Vissing, John ; Witting, Nanna ; Nafissi, Shahriar ; Jamal-Omidi, Shirin ; Łusakowska, Anna ; Kostera-Pruszczyk, Anna ; Potulska-Chromik, Anna ; Deconinck, Nicolas ; Wallgren-Pettersson, Carina ; Strang-Karlsson, Sonja ; Colomer, Jaume ; Claeys, Kristl G ; De Ridder, Willem ; Baets, Jonathan ; von der Hagen, Maja ; Fernández-Torrón, Roberto ; Zulaica Ijurco, Miren ; Espinal Valencia, Juan Bautista ; Hahn, Andreas ; Durmus, Hacer ; Willis, Tracey ; Xu, Liwen ; Valkanas, Elise ; Mullen, Thomas E ; Lek, Monkol ; MacArthur, Daniel G ; Straub, Volker

Skeletal muscle, 2018-07, Vol.8 (1), p.23-23, Article 23 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects
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JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects

de Filippis, Tiziana ; Marelli, Federica ; Nebbia, Gabriella ; Porazzi, Patrizia ; Corbetta, Sabrina ; Fugazzola, Laura ; Gastaldi, Roberto ; Vigone, Maria Cristina ; Biffanti, Roberta ; Frizziero, Daniela ; Mandarà, Luana ; Prontera, Paolo ; Salerno, Mariacarolina ; Maghnie, Mohamad ; Tiso, Natascia ; Radetti, Giorgio ; Weber, Giovanna ; Persani, Luca

The journal of clinical endocrinology and metabolism, 2016-03, Vol.101 (3), p.861-870 [Periódico revisado por pares]

United States: Endocrine Society

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10
Genome-wide analyses identify common variants associated with macular telangiectasia type 2
Genome-wide analyses identify common variants associated with macular telangiectasia type 2
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Genome-wide analyses identify common variants associated with macular telangiectasia type 2

Scerri, Thomas S ; Quaglieri, Anna ; Cai, Carolyn ; Zernant, Jana ; Matsunami, Nori ; Baird, Lisa ; Scheppke, Lea ; Bonelli, Roberto ; Yannuzzi, Lawrence A ; Friedlander, Martin ; Egan, Catherine A ; Fruttiger, Marcus ; Leppert, Mark ; Allikmets, Rando ; Bahlo, Melanie

Nature genetics, 2017-04, Vol.49 (4), p.559-567 [Periódico revisado por pares]

United States: Nature Publishing Group

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