Results 191 to 200 of about 146,225 (252)
Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry
Pediatric Blood &Cancer, Volume 73, Issue 11, November 2026.ABSTRACT Background
Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods
We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton +11 morewiley +1 more sourceManyBabies 3: A Multi‐Lab Study of Infant Algebraic Rule Learning
Developmental Science, Volume 29, Issue 6, November 2026.ABSTRACT
The ability to learn and apply rules lies at the heart of cognition. In a seminal study, Marcus et al. (1999) reported that 7‐month‐old infants learned abstract rules over syllable sequences and were able to generalize those rules to novel syllable sequences.Ingmar Visser, Andreea Geambasu, George Kachergis, Cátia M. Oliveira, Joscelin Rocha‐Hidalgo, Martin Zettersten, Teruni Ahamat, Nicolás Alessandroni, Nadja Althaus, Sudha Arunachalam, Suzanne Aussems, Emma L Axelsson, Zeynep Aydin, Heidi A. Baumgartner, Christina Bergmann, Roberta Bettoni, Alexis K. Black, Hermann Bulf, Krista Byers‐Heinlein, Chiara Capparini, Lily Carroll, Alexandra Carstensen, Rebekka Cebulla, Xiaoyun Chen, Kateřina Chládková, Benedetta Colavolpe, Rodica R Constantine, Elísabet Eir Cortes, Frances L. Doyle, Anna Exner, Samuel H Forbes, Laura Franchin, Alessandra Geraci, Judit Gervain, Nayeli Gonzalez‐Gomez, Silje Hagelund, Erin E Hannon, Naomi Havron, Sagi Jaffe‐Dax, Scott P Johnson, Wiktoria Jędryczka, Natalia Kartushina, Melissa Kline Struhl, Ada Koleini, Abhinav Kona, Shannon P Kong, Jessica E Kosie, Monika Kuc̆erová, Katerina Cook, Jared Wayne Leslie, Casey Lew‐Williams, Scarlet Wan Yee Li, Romi Livne, Ellen Marklund, Julien Mayor, Michal Misiak, David Moreau, Jutta L. Mueller, Amber Muhinyi, Alyssa A Quinn, Maartje E. J. Raijmakers, Audun Rosslund, Iris‐Corinna Schwarz, Jeanne L Shinskey, Mohinish Shukla, Sylvain Sirois, Piotr Sorokowski, Basma Sowan, Tibor Tauzin, Angeline Sin Mei Tsui, Martina Turconi, Rebeca C Urizar, Lisa Wagner, Stephanie Wermelinger, Gert Westermann, Ivonne Weyers, Luiza S. B. Yuan, Martina S. Zaharieva, Tania S. Zamuner, Barbara Zapiór, Simone Zasso, J. Grace Zhou, Melanie Soderstrom, Clara C. Levelt +83 morewiley +1 more sourceGephyrin Neurological Autoimmunity
Annals of Neurology, Volume 100, Issue 4, Page 781-787, October 2026.Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon +10 morewiley +1 more sourceOral vitamin C supplementation in patients with clonal cytopenia of undetermined significance or lower‐risk myeloid malignancies: Results from EVITA, a phase 2 randomized, placebo‐controlled trial
Cancer, Volume 132, Issue 19, 1 October 2026.Abstract Background
Vitamin C (VitC) is a cofactor for TET enzymes involved in DNA demethylation and epigenetic regulation. Mutations in TET2 are common drivers of leukemia. Preclinical studies suggest that VitC may delay leukemia progression. This study aimed to evaluate the biological activity, safety, and clinical impact of oral VitC in patients ...Stine Ulrik Mikkelsen, Ali Al‐Mousawi, Amalie Bach Puglisi, Anders Pommer Vallentin, Astrid Østergaard Mortensen, Zachary Madaj, Toshinori Hinoue, Heidi Naomi Ottesen, Jakob Schmidt Jespersen, Linn Gillberg, Morten Tulstrup, Niels Richard Hansen, Jakob Werner Hansen, Mette Klarskov Andersen, Stacey Lyn Thomas, Christine Isaguirre, Ryan Sheldon, Marie Adams, Ryan Burgos, Stephen Baylin, Bo Kok Mortensen, Casey Lee O’Connell, Marianne Tang Severinsen, Peter William Laird, Jens Lykkesfeldt, Peter Jones, Kirsten Grønbæk +26 morewiley +1 more sourceVariation in Stabilization and Resuscitation Practices at Birth of Preterm Infants Among 12 National or Regional Neonatal Networks
Acta Paediatrica, Volume 115, Issue 10, Page 2237-2243, October 2026.ABSTRACT Aim
Neonatal resuscitation follows national or regional guidelines, but uptake varies in clinical practice. This study aimed to examine variations in reported delivery room practices for infants < 29 weeks' gestation across neonatal units in 12 networks of the International Network for Evaluating Outcomes in Neonates.Maria Fernanda de Almeida, Ruth Guinsburg, Kjell Helenius, Maximo Vento, Valerie Biran, Tomasz Szczapa, Malcolm Battin, Satoshi Kusuda, Mikael Norman, Simone Pratesi, Mark Adams, Dirk Bassler, Kei Lui, Laura SanFeliciano, Liisa Lehtonen, Gil Klinger, Tetsuya Isayama, Brian Reichman, Marc Beltempo, Prakesh S. Shah, on behalf of on behalf of iNeo Investigators, Scott Morris, Peter Schmidt, Manbir Chauhan, Anjali Dhawan, Larissa Korostenski, Mary Sharp, Tobias Strunk, Jacqueline Stack, Pita Birch, Tori Oliver, Lucy Cooke, Dan Casalaz, Jim Holberton, Alice Stewart, Rod Hunt, Kenneth Tan, Lyn Downe, Michael Stewart, Andrew Berry, Leah Hickey, Mantho Kgosiemang, Laura Prado, Tony De Paoli, Naomi Spotswood, Srinivas Bolisetty, Eveline Staub, Mark Greenhalgh, Pieter Koorts, Risha Bhatia, Bron Hennebry, Hari Ravindranathan, Hazel Carlisle, Nadia Badawi, Himanshu Popat, Gary Alcock, Jonathan Davis, Melissa Luig, Michael Stark, Margaret Broom, Georgina Chambers, Natalie Merida, Bronwyn Dixon, Brian Darlow, Jason Wister, Kristin O'Connor, Mariam Buksh, Jutta van den Boom, Angelica Allermo‐Fletcher, Helen Miller, David Barker, Claire Jacobs, Woei Bing Poon, Vijay R. Baral, Rosanna Wong, Simon Lam, Kiu Lok Siu, Mabel Wong, José Maria de Andrade Lopes, Maria Fernanda Branco de Almeida, Fábio Carmona, Jamil Pedro de Siqueira Caldas, Sérgio Tadeu Martins Marba, Lígia Maria Suppo de Souza Rugolo, Walusa Assad Gonçalves Ferri, Maria Albertina Santiago Rego, Regina Vieira Cavalcanti da Silva, Daniela Marques de Lima M. Ferreira, Renato S. Procianoy, Nathalia Moura de Mello, Milton Harumi Miyoshi, Jorge Hecker Luz, Juliana Paula Ferraz Santos, José Luiz Bandeira Duarte, Lígia S. Lopes Ferrari, Marynea Silva do Vale, Edna Maria de Albuquerque Diniz, Vera Lucia Jornada Krebs, Jucille Meneses, Silvia Cwajg, José Mariano Alves Junior, Maurício Obal Colvero, Thevanisha Pillay, Jonathan Wong, Miroslav Stavel, Rebecca Sherlock, Ayman Abou Mehrem, Jennifer Toye, Joseph Ting, Carlos Fajardo, Andrei Harabor, Lannae Strueby, Mary Seshia, Deepak Louis, Chelsea Ruth, Ann Yi, Amit Mukerji, Orlando Da Silva, Sajit Augustine, Kyong‐Soon Lee, Eugene Ng, Brigitte Lemyre, Brigitte Lemyre, Faiza Khurshid, Victoria Bizgu, Keith Barrington, Anie Lapointe, Guillaume Ethier, Christine Drolet, Martine Claveau, Marie St‐Hilaire, Valerie Bertelle, Edith Masse, Caio Barbosa de Oliveira, Hala Makary, Gabriela de Carvalho Nunes, Wissam Alburaki, Jo‐Anna Hudson, Jehier Afifi, Andrzej Kajetanowicz, Bruno Piedboeuf, Marjo Metsäranta, Päivi Korhonen, Ulla Sankilampi, Timo Saarela, Pierre Tourneux, Bertrand Leboucher, Désirée Andriamanjato, Julien Ghesquiere, Gael Mazeiras, Gérard Thiriez, Laurence Joly, Olivier Brissaud, Suzanne Borrhomee, Elisabeth Pellae Stéphanie Malexieux‐Evrard, Franck Plaisant, Marine Butin, Mathilde Laviec, Angelina Dubois, Narcisse Elenga, Nelya Moreau‐Blanc, Johanna Parra, Etienne Agudze, Shivani Shankar‐Aguilera, Karine Coste, Samia Ben‐Dhafer, Hasinirina Razafimahefa, Christina Kalil, Said‐Mohamed Dhabi, Xavier Durrmeyer, Denis Semama, Leonor Nieddu, Fabrice Cneude, Julien Mourdier, Diane Carriere, Amélie Kieffer, Jean‐Marc Rosenthal, Florence Flamein, Antoine Bedu, Farid Boubred, Barthélémy Tosello, Aimen Bsila, Gilles Cambonie, Richard Wolff, Amélie Stern‐Delfils, Apolline Wittwer, Cyril Flamant, Isabelle Guellec‐Renne, Massimo Dimaio, Roselyne Brat, Francoise Pawlotsky, Marianne Besnard, Clément Chollat, Cyril Guillier, Juliana Patkaï, Elsa Kermorvant, Alexandra David, Chloé Lapeyre, Pascal Boileau, Emeline Gabilly‐Benard, Morgane Montupet, Nathalie Bednarek, Alain Beuchée, Jean‐Baptiste Muller, Jennifer Chauvel, Alizée Lori, Sylvain Samperiz, Odile Becquet, Antoine Giraud, Clémentine Auzet, Pierre Kuhn, Delphine Mitanchez, Ali Bilal, Juliette Barois, Adeline Lacazette, Iris Morag, Omer Globus, Shmuel Zangen, Tatyana Smolkin, Yaron Nave, Arieh Riskin, Karen Lavie‐Nevo, Zipora Strauss, Scott Weiner, Hussam Omari, Smadar Even Tov‐Friedman, Sinan Abu Leil, Amit Hochberg, Nizar Saad, Calanit Hershkovich‐Shporen, Aryeh Simmonds, Bernard Barzilay, Sofia Bauer, Amir Kugelman, Eric Shinwell, Yousif Nijim, Yaron Nave, Eilon Shani, Dror Mandel, Vered Fleisher‐Sheffer, Anat Oron, Lev Bakhrakh, Yukiteru Tachibana, Ayumu Noro, Toshihiko Mori, Ken Nagaya, Masaru Shirai, Toru Ishioka, Toshiya Saito, Yosuke Kaneshi, Masaki Kobayashi, Nobuko Shiono, Nobuhiro Takahashi, Yusuke Ohkado, Tatsuro Satomi, Mika Nakajima, Eiki Nakamura, Tomofumi Ikeda, Genichiro Sotodate, Mari Ishii, Toru Huchimukai, Takahide Hosokawa, Rikio Suzuki, Masatoshi Sanjo, Michiya Kudo, Takushi Hanita, Hirokazu Arai, Masato Ito, Satoshi Niwa, Masanari Kawamura, Satoshi Watanabe, Yousuke Sudo, Hiroshi Yoshida, Tsutomu Ishii, Takashi Imamura, Maki Sato, Yoshiya Yukitake, Yayoi Miyazono, Goro Asada, Yumi Kono, Yasuaki Kobayashi, Hiroshi Suzuki, Yasushi Oki, Kenji Ichinomiya, Toru Fujiu, Hideaki Fukushima, Hideshi Fujinaga, Tetsuya Kunikata, Fumihiko Namba, Masaki Shimizu, Shigeharu Hosono, Chika Morioka, Motoichiro Sakurai, Hiroshi Matsumoto, Naoto Nishizaki, Satoshi Toishi, Harumi Otsuka, Masahiko Sato, Kenichiro Hirakawa, Kenichiro Hosoi, Keiji Goishi, Yuji Ito, Kyone Ko, Hiromichi Shoji, Atsuo Miyazawa, Yuko Nagaoki, Naoki Ito, Ken Masunaga, Reiko Kushima, Sakae Kumasaka, Manabu Sugie, Daisuke Haruhara, Masahiro Kobayashi, Satsuki Kakiuchi, Riki Nishimura, Kaoru Okazaki, Hitoshi Yoda, Atsushi Nakao, Ichiro Morioka, Daisuke Ogata, Fumihiko Ishida, Daisuke Nishi, Miho Sato, Ayako Fukuyama, Kuriko Nakamura, Kanji Ogo, Masahiko Murase, Katsuaki Toyoshima, Isamu Hokuto, Maha Suzuki, Atsushi Uchiyama, Yoshio Shima, Hidehiko Nakanishi, Atsushi Nemoto, Akira Shimazaki, Tatsuya Yoda, Yukihide Miyosawa, Takehiko Hiroma, Yosuke Shima, Gen Kuratsuji, Yoshihisa Nagayama, Tohei Usuda, Rei Kobayashi, Hiroaki Imamura, Takeshi Hutani, Taketoshi Yoshida, Azusa Kobayashi, Kazuhide Ohta, Shuya Nagaoki, Yasuhisa Ueno, Toru Ando, Ritsuyo Taguchi, Takashi Okuno, Hiroshi Yamamoto, Takeshi Arakawa, Shinji Usui, Yasushi Uchida, Takashi Tachibana, Tokuso Murabayashi, Tadayuki Kumagai, Shigeru Oki, Reiji Nakano, Taizo Ueno, Mitsuhiro Ito, Masami Shirai, Akira Oishi, Hikaru Yamamoto, Hiroshi Takeshita, Yuichi Kato, Masashi Hayashi, Kuniko Ieda, Koji Takemoto, Takako Hirooka, Masashi Miyata, Makoto Ohshiro, Masanori Kowaki, Osamu Shinohara, Yasunori Koyama, Osuke Iwata, Takahiro Muramatsu, Akinobu Taniguchi, Naoki Kamata, Hiroshi Uchizono, Kanemasa Maki, Takahide Yanagi, Kenji Nakamura, Masahito Yamamoto, Jitsuko Ohira, Machiko Sawada, Kozue Shiomi, Ryosuke Araki, Daisuke Kinoshita, Ryuji Hasegawa, Akira Nishimura, Hiroshi Komatsu, Koji Nozaki, Shinsuke Adachi, Toru Yamakawa, Masahiko Kai, Hiroshi Sumida, Hirotaka Minami, Kenji Mine, Reiko Negi, Satoru Ogawa, Ryoko Yoshinare, Yasuyuki Tokunaga, Kiyoaki Sumi, Akihiro Takatera, Atsushi Ogihara, Satoshi Onishi, Taho Kim, Hiroyuki Ichiba, Misao Yoshii, Hitomi Okabe, Yoshio Kusumoto, Shinya Hirano, Hiroshi Mizumoto, Yae Michinomae, Makoto Nabetani, Takeshi Morisawa, Masaaki Ueda, Takahiro Okutani, Masaru Yamakawa, Kazumichi Fujioka, Tomoaki Ioroi, Takeshi Utsunomiya, Seiji Yoshimoto, Tamaki Ohashi, Toshiya Nishikubo, Ken Kumagaya, Akiko Tamura, Masumi Miura, Yuki Hasegawa, Rie Kanai, Kei Takemoto, Koichi Tsukamoto, Misao Kageyama, Takashi Nakano, Hironobu Tokumasu, Moriharu Sugimoto, Rie Fukuhara, Yutaka Nishimura, Seiichi Hayakawa, Yasuhiko Sera, Masahiro Tahara, Shinosuke Fukunaga, Keiko Hasegawa, Kazumasa Takahashi, Hiroshi Tateishi, Tomomasa Terada, Takashi Yamagami, Takahiko Saijo, Kosuke Koyano, Toru Kuboi, Osamu Matsuda, Shinosuke Akiyoshi, Takahiro Motoki, Yoichi Kondo, Yusei Nakata, Hideaki Harada, Masayuki Ochiai, Toshinori Nakashima, Toshiharu Hikino, Shutaro Suga, Mitsuaki Unno, Hiroshi Kanda, Yasushi Takahata, Hiroyasu Kawano, Takayuki Kokubo, Toshimitsu Takayanagi, Mikio Aoki, Muneichiro Sumi, Fumiko Kinoshita, Tsutomu Ogata, Kei Inomata, Masanori Iwai, Naoki Fukushima, Koichi Iida, Mitsushi Goshi, Yuki Kodama, Shuichi Yanagibe, Yuko Maruyama, Takuya Tokuhisa, Yoriko Kisato, Tatsuo Oshiro, Kazuhiko Nakasone, Asao Yara, Witold Błaż, Aleksandra Skubisz, Saint Jadwiga, Joanna Seliga‐Siwecka, Iwona Sadowska‐Krawczenko, Alina Kowalczykiewicz‐Kuta, Monika Kamianowska, Dariusz Madajczak, Joanna Jassem‐Bobowicz, Katarzyna Wróblewska‐Seniuk, Paweł Krajewski, Iwona Maruniak‐Chudek, Helena Sławska, Ryszard Lauterbach, Barbara Królak‐Olejnik, Ewa Gulczyńska, Eulalia Majewska, Beata Łoniewska, Grzegorz Tokarski, Agnieszka Kordek, Jan Mazela, Ewa Adamska, Marzena Michalak‐Kloc, Norbert Dera, Joanna Mgeładze, Beata Pawlus, Marta Twardoch‐Drozd, Marcin Kęsiak, Tomasz Wawrzoniak, Jacek Patalan, Małgorzata Stefańska, Andrzej Zawora, Monika Wójtowicz‐Marzec, Beata Rzepecka‐Węglarz, Marzena Słomian, Dorota Bulsiewicz, Danuta Cynkier, Mateusz Jagła, Barbara Chomik, Magdalena Klemińska‐Nowak, Mazovian Bródnowski, Agnieszka Kowalczyk, Jakub Behrendt, Mariusz Bielawny, Dorota Skutecka, Jarosław Szułczyński, Marta Jałbrzykowska, Małgorzata Bierła, Danuta Zimmer, Blessed Virgin, Barbara Michalczyk, Ewa Chodakowska, Wojciech Kowalik, Iwona Maruniak‐Chudek, Justyna Domosud, Grażyna Ohia, Anna Strzęciwilk, Piotr Kruczek, Alejandro Avila‐Alvarez, José Luis Fernandez‐Trisac, Mª Luz Couce Pico, María José Fernández Seara, Andrés Martínez Gutiérrez, Carolina Vizcaíno, Miriam Salvador Iglesias, Honorio Sánchez Zaplana, Belén Fernández Colomer, José Enrique García López, Rafael García Mozo, M. Teresa González Martínez, Mª Dolores Muro Sebastián, Marta Balart Carbonell, Joan Badia Barnusell, Mònica Domingo Puiggròs, Josep Figueras Aloy, Francesc Botet Mussons, Israel Anquela Sanz, Gemma Ginovart Galiana, W. Coroleu, Martin Iriondo, Laura Castells Vilella, Roser Porta, Xavier Demestre, Silvia Martínez Nadal, Cristina de Frutos Martínez, María Jesús López Cuesta, Dolores Esquivel Mora, Joaquín Ortiz Tardío, Isabel Benavente, Almudena Alonso, Ramón Aguilera Olmos, Miguel A. García Cabezas, Mª Dolores Martínez Jiménez, Mª Pilar Jaraba Caballero, Mª Dolores Ordoñez Díaz, Alberto Trujillo Fagundo, Lluis Mayol Canals, Fermín García‐Muñoz Rodrigo, Lourdes Urquía Martí, María Fernanda Moreno Galdo, José Antonio Hurtado Suazo, Eduardo Narbona López, José Uberos Fernández, Miguel A. Cortajarena Altuna, Oihana Muga Zuriarrain, David Mora Navarro, María Teresa Domínguez, Mª Yolanda Ruiz del Prado, Inés Esteban Díez, María Teresa Palau Benavides, Santiago Lapeña, Teresa Prada, Eduard Soler Mir, Araceli Corredera Sánchez, Enrique Criado Vega, Náyade del Prado, Cristina Fernández, Lucía Cabanillas Vilaplana, Irene Cuadrado Pérez, Luisa López Gómez, Laura Domingo Comeche, Isabel Llana Martín, Carmen González Armengod, Carmen Muñoz Labián, Mª José Santos Muñoz, Dorotea Blanco Bravo, Vicente Pérez, Mª Dolores Elorza Fernández, Celia Díaz González, Susana Ares Segura, Manuela López Azorín, Ana Belén Jimenez, Tomás Sánchez‐Tamayo, Elías Tapia Moreno, María González, José Enrique Sánchez Martínez, José María Lloreda García, Concepción Goñi Orayen, Javier Vilas González, María Suárez Albo, Eva González Colmenero, Elena Pilar Gutiérrez González, Beatriz Vacas del Arco, Josefina Márquez Fernández, Laura Acosta Gordillo, Mercedes Granero Asensio, Carmen Macías Díaz, Mar Albújar, Pedro Fuster Jorge, Sabina Romero, Mónica Rivero Falero, Ana Belén Escobar Izquierdo, Javier Estañ Capell, Mª Isabel Izquierdo Macián, Mª Mar Montejo Vicente, Raquel Izquierdo Caballero, Mª Mercedes Martínez, Aintzane Euba, Amaya Rodríguez Serna, Juan María López de Heredia Goya, Alberto Pérez Legorburu, Ana Gutiérrez Amorós, Víctor Manuel Marugán Isabel, Natalio Hernández González, Segundo Rite Gracia, Mª Purificación Ventura Faci, Mª Pilar Samper Villagrasa, Rachel Kusche, Sven Schulzke, André Kidszun, Mathias Gebauer, Bjarte Rogdo, Benedikt Huber, Riccardo E. Pfister, Jean‐François Tolsa, Juliane Schneider, Martin Stocker, Ikbel El Faleh, Andreas Malzacher, André Birkenmaier, Lukas Hegi, Vincenzo Cannizzaro, Cornelia Hagmann, Maren Tomaske, Carlo Dani, Marco Moroni, Luca Filippi, Barbara Tomasini, Elettra Berti, Vieri Lastrucci +676 morewiley +1 more source
