Որոնման արդյունքները - Valeria Capra
- Ցուցադրվում են 1 - 20 արդյունքները 29
- Գնացեք Հաջորդ էջ
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Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk Patrizia De Marco, Elisa Merello, Maria Grazia Calevo, Samantha Mascelli, Alessandro Raso, Armando Cama, Valeria Capra
Հրապարակվել է 2005Artigo -
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Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: a single-center experience Pietro Fiaschi, Marco Pavanello, Alessia Imperato, Villiam Dallolio, Andrea Accogli, Valeria Capra, Alessandro Consales, Armando Cama, Gianluca Piatelli
Հրապարակվել է 2016Artigo -
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Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans Jeong Hwa Seo, Yulia Zilber, Sevda Babayeva, J. Liu, Paulina Kyriakopoulos, Patrizia De Marco, Elisa Merello, Valeria Capra, Philippe Gros, Elena Torban
Հրապարակվել է 2011Artigo -
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Reduced folate carrier polymorphism (80A→G) and neural tube defects Patrizia De Marco, Maria Grazia Calevo, Anna Moroni, Elisa Merello, Alessandro Raso, Richard H. Finnell, Huiping Zhu, L. Andreussi, Armando Cama, Valeria Capra
Հրապարակվել է 2003Artigo -
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Identification and characterization of novel rare mutations in the planar cell polarity gene<i>PRICKLE1</i>in human neural tube defects Ciprian M. Bosoi, Valeria Capra, Redouane Allache, Vincent Quoc‐Huy Trinh, Patrizia De Marco, Elisa Merello, Pierre Drapeau, Alexander G. Bassuk, Zoha Kibar
Հրապարակվել է 2011Artigo -
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Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population Patrizia De Marco, Maria Grazia Calevo, Anna Moroni, L Arata, Elisa Merello, Richard H. Finnell, Hao Zhu, L. Andreussi, Armando Cama, Valeria Capra
Հրապարակվել է 2002Artigo -
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Diagnostic Approach to Macrocephaly in Children Andrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, Antonella Riva, Marcello Scala, Ganna Balagura, Vincenzo Salpietro, Francesca Madia, Mohamad Maghnie, Federico Zara, Pasquale Striano, Domenico Tortora, Mariasavina Severino, Valeria Capra
Հրապարակվել է 2022Revisão -
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Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females Marcello Scala, Annalaura Torella, Mariasavina Severino, Giovanni Morana, Raffaele Castello, Andrea Accogli, Antonio Verrico, Maria Stella Vari, Gerarda Cappuccio, Michele Pinelli, Giuseppina Vitiello, Gaetano Terrone, Alessandra D’Amico, Vincenzo Nigro, Valeria Capra
Հրապարակվել է 2019Artigo -
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Mutation Analysis of <i>CCM1, CCM2</i> and <i>CCM3</i> Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation Rosalia D’Angelo, Valéria Marini, Carmela Rinaldi, Paola Origone, Alessandra Dorcaratto, Maria Avolio, Luca Goitre, Marco Forni, Valeria Capra, Concetta Alafaci, Cristina Mareni, Cecilia Garrè, Placido Bramanti, Antonina Sidoti, Saverio Francesco Retta, A. Amato
Հրապարակվել է 2010Artigo -
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Mutations in<i>VANGL1</i>Associated with Neural-Tube Defects Zoha Kibar, Elena Torban, Jonathan R. McDearmid, Annie Reynolds, Joanne Berghout, Mélissa Mathieu, I A Kirillova, Patrizia De Marco, Elisa Merello, Julie M. Hayes, John B. Wallingford, Pierre Drapeau, Valeria Capra, Philippe Gros
Հրապարակվել է 2007Artigo -
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Loss-of-function de novo mutations play an important role in severe human neural tube defects Philippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, Alexandre Dionne‐Laporte, Dan Spiegelman, Édouard Henrion, Ousmane Diallo, Patrizia De Marco, Elisa Merello, Christine Massicotte, Valérie Désilets, Jacques L. Michaud, Guy A. Rouleau, Valeria Capra, Zoha Kibar
Հրապարակվել է 2015Artigo -
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PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, Giovanni Gesu, Lucio Giordano Accorsi, Stefano Parmigiani, Maria Franca Corona, Valeria Capra, Andrea Mosca, S. Giovannini, Francesca Notturno, Fausta Ciccocioppo, L. Volpi, Margherita Estienne, Giuseppe De Michele, Antonella Antenora, Leonilda Bilo, Antonietta Tavoni, Nelia Zamponi, Enrico Alfei, Giovanni Baranello, Daria Riva, Silvana Penco
Հրապարակվել է 2014Artigo -
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Frequent <i>hSNF5/INI1</i> Germline Mutations in Patients with Rhabdoid Tumor Franck Bourdeaut, Delphine Lequin, Laurence Brugières, Stéphanie Reynaud, Christelle Dufour, François Doz, Nicolás André, Jean‐Louis Stéphan, Yves Pérel, Odile Oberlin, Daniel Orbach, Christophe Bergeron, Xavier Rialland, Paul Fréneaux, Dominique Ranchère, Dominique Figarella‐Branger, G. Audry, Stéphanie Puget, D. Gareth Evans, Joan Carles Ferreres, Valeria Capra, Véronique Mosseri, Isabelle Coupier, Marion Gauthier‐Villars, Gaëlle Pierron, Olivier Delattre
Հրապարակվել է 2011Artigo -
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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study Marcello Scala, Irene Schiavetti, Francesca Madia, Cristina Chelleri, Gianluca Piccolo, Andrea Accogli, Antonella Riva, Vincenzo Salpietro, Renata Bocciardi, Guido Morcaldi, Marco Di Duca, Francesco Caroli, Antonio Verrico, Claudia Milanaccio, Gianmaria Viglizzo, Monica Traverso, Sımona Baldassari, Paolo Scudieri, Michele Iacomino, Gianluca Piatelli, Carlo Minetti, Pasquale Striano, Maria Luisa Garrè, Patrizia De Marco, Maria Cristina Diana, Valeria Capra, Marco Pavanello, Federico Zara
Հրապարակվել է 2021Artigo -
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VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase<i>Pcsk5</i> Dorota Szumska, Guido Pieles, Rachid Essalmani, Michal Bilski, Daniel Mesnard, Kulvinder Kochar Kaur, Angela Franklyn, Kamel El Omari, Joanna M. Jefferis, Jamie Bentham, Jennifer M. Taylor, Jürgen E. Schneider, Sebastian J. Arnold, Paul Johnson, Zuzanna Tymowska‐Lalanne, D.K. Stammers, Kieran Clarke, Stefan Neubauer, Andrew P. Morris, Steve D. M. Brown, Charles Shaw‐Smith, Armando Cama, Valeria Capra, Jiannis Ragoussis, Daniel B. Constam, Nabil G. Seidah, Annik Prat, Shoumo Bhattacharya
Հրապարակվել է 2008Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Genetics
Gene
Medicine
Embryo
Neural tube
Mutation
Internal medicine
Phenotype
Missense mutation
Bioinformatics
Neural tube defect
Exon
Multiplex ligation-dependent probe amplification
Neuroscience
Pathology
Cell biology
Cohort
Computational biology
Computer science
Embryogenesis
Frameshift mutation
Gastrulation
Genotype
Germline
Neurulation
Wnt signaling pathway
Allele
Anatomy
Anencephaly