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Refinado por: Base de dados/Biblioteca: AUC Wiley Frozen Package in 2012 remover assunto: Medical And Health Sciences remover assunto: Science & Technology remover Medicinska Och Farmaceutiska Grundvetenskaper remover Medicinsk Genetik remover
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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Vollstedt, Eva‐Juliane ; Padmanabhan, Shalini ; Brice, Alexis ; Tesson, Christelle ; Vidailhet, Marie ; Hentati, Faycel ; Mirelman, Anat ; Fahn, Stanley ; Brüggemann, Norbert ; Foroud, Tatiana ; Tolosa, Eduardo ; Garrido, Alicia ; Annesi, Grazia ; Correia Guedes, Leonor ; Petrucci, Simona ; Fedotova, Ekaterina Y. ; Alvarez, Victoria ; Menéndez‐González, Manuel ; Gómez‐Garre, Pilar ; Mir, Pablo ; Belin, Andrea Carmine ; Jankovic, Joseph ; Nishioka, Kenya ; Funayama, Manabu ; Clarimon, Jordi ; Williams‐Gray, Caroline H. ; Camacho, Marta ; Puschmann, Andreas ; Carr, Jonathan ; Ferese, Rosangela ; Gambardella, Stefano ; Chase, Bruce ; Markopoulou, Katerina ; Toda, Tatsushi ; Lynch, Timothy ; Carvalho Aguiar, Patricia ; Saunders‐Pullman, Rachel ; Skorvanek, Matej ; Garraux, Gaetan ; Chung, Sun Ju ; Klivényi, Péter ; Kostic, Vladimir S. ; Borges, Vanderci ; Spitz, Mariana ; Riess, Olaf ; Valente, Enza Maria ; Corvol, Jean‐Christophe ; Klein, Christine ; Aasly, Jan O. ; Abramycheva, Natalya Y. ; Al‐Mubarak, Bashayer ; Ferraz, Henrique Ballalai ; Barrett, Matthew J. ; Başak, A. Nazlı ; Boon, Agnita J. W. ; Borges, Vanderci ; Borngräber, Friederike ; Bozi, Maria ; Bressman, Susan ; Brice, Alexis ; Belin, Andrea Carmine ; Cornejo‐Olivas, Mario ; Chung, Sun Ju ; Crosiers, David ; Carvalho Aguiar, Patricia ; Fahn, Stanley ; Fedotova, Ekaterina Y. ; Foroud, Tatiana ; Giladi, Nir ; Gómez‐Garre, Pilar ; Hattori, Nobutaka ; Hertz, Jens Michael ; Illarioshkin, Sergey N. ; Kievit, Anneke A. ; Koziorowski, Dariusz ; Krüger, Rejko ; Kühn, Andrea A. ; Kuhlenbäumer, Gregor ; Lim, Jia Lun ; Lin, Chin‐Hsien ; Markopoulou, Katerina ; Menéndez‐González, Manuel ; Mirelman, Anat ; Morris, Huw ; Pachchek, Sinthuja ; Puschmann, Andreas ; Rossi, Malco ; Sammler, Esther M. ; Satake, Wataru ; Stefanis, Leonidas ; Soto‐Beasley, Alexandra I. ; Spitz, Mariana ; Suchowersky, Oksana ; Tan, Eng‐King ; Tesson, Christelle ; Toda, Tatsushi ; Torres‐Ramirez, Luis ; Tumas, Vitor ; Uyguner, Oya ; Wu, Yih‐Ru

Movement disorders, 2023-02, Vol.38 (2), p.286-303 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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2
Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
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Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

Brandão, Rita D. ; Mensaert, Klaas ; López‐Perolio, Irene ; Tserpelis, Demis ; Xenakis, Markos ; Lattimore, Vanessa ; Walker, Logan C. ; Kvist, Anders ; Vega, Ana ; Gutiérrez‐Enríquez, Sara ; Díez, Orland ; Hoya, Miguel ; Spurdle, Amanda B. ; De Meyer, Tim ; Blok, Marinus J.

International journal of cancer, 2019-07, Vol.145 (2), p.401-414 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
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Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Sen, Partha ; Yang, Yaping ; Navarro, Colby ; Silva, Iris ; Szafranski, Przemyslaw ; Kolodziejska, Katarzyna E. ; Dharmadhikari, Avinash V. ; Mostafa, Hasnaa ; Kozakewich, Harry ; Kearney, Debra ; Cahill, John B. ; Whitt, Merrissa ; Bilic, Masha ; Margraf, Linda ; Charles, Adrian ; Goldblatt, Jack ; Gibson, Kathleen ; Lantz, Patrick E. ; Garvin, A. Julian ; Petty, John ; Kiblawi, Zeina ; Zuppan, Craig ; McConkie-Rosell, Allyn ; McDonald, Marie T. ; Peterson-Carmichael, Stacey L. ; Gaede, Jane T. ; Shivanna, Binoy ; Schady, Deborah ; Friedlich, Philippe S. ; Hays, Stephen R. ; Palafoll, Irene Valenzuela ; Siebers-Renelt, Ulrike ; Bohring, Axel ; Finn, Laura S. ; Siebert, Joseph R. ; Galambos, Csaba ; Nguyen, Lananh ; Riley, Melissa ; Chassaing, Nicolas ; Vigouroux, Adeline ; Rocha, Gustavo ; Fernandes, Susana ; Brumbaugh, Jane ; Roberts, Kari ; Ho-ming, Luk ; Lo, Ivan F. M. ; Lam, Stephen ; Gerychova, Romana ; Jezova, Marta ; Valaskova, Iveta ; Fellmann, Florence ; Afshar, Katayoun ; Giannoni, Eric ; Muhlethaler, Vincent ; Liang, Jinlong ; Beckmann, Jacques S. ; Lioy, Janet ; Deshmukh, Hitesh ; Srinivasan, Lakshmi ; Swarr, Daniel T. ; Sloman, Melissa ; Shaw-Smith, Charles ; van Loon, Rosa Laura ; Hagman, Cecilia ; Sznajer, Yves ; Barrea, Catherine ; Galant, Christine ; Detaille, Thierry ; Wambach, Jennifer A. ; Cole, F. Sessions ; Hamvas, Aaron ; Prince, Lawrence S. ; Diderich, Karin E.M. ; Brooks, Alice S. ; Verdijk, Robert M. ; Ravindranathan, Hari ; Sugo, Ella ; Mowat, David ; Baker, Michael L. ; Langston, Claire ; Welty, Stephen ; Stankiewicz, Pawel

Human mutation, 2013-06, Vol.34 (6), p.801-811 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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4
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study
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Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study

Borg, Åke ; Haile, Robert W ; Malone, Kathleen E ; Capanu, Marinela ; Diep, Ahn ; Törngren, Therese ; Teraoka, Sharon ; Begg, Colin B ; Thomas, Duncan C ; Concannon, Patrick ; Mellemkjaer, Lene ; Bernstein, Leslie ; Tellhed, Lina ; Xue, Shanyan ; Olson, Eric R ; Liang, Xiaolin ; Dolle, Jessica ; Børresen-Dale, Anne-Lise ; Bernstein, Jonine L

Human mutation, 2010-03, Vol.31 (3), p.E1200-E1240 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients
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Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients

Sørensen, Karina Meden ; El-Segaier, Milad ; Fernlund, Eva ; Errami, Ab ; Bouvagnet, Patrice ; Nehme, Nancy ; Steensberg, Jesper ; Hjortdal, Vibeke ; Soller, Maria ; Behjati, Mohaddeseh ; Werge, Thomas ; Kirchoff, Maria ; Schouten, Jan ; Tommerup, Niels ; Andersen, Paal Skytt ; Larsen, Lars Allan

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.720-725 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)
Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)
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Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)

Staaf, Johan ; Törngren, Therese ; Rambech, Eva ; Johansson, Ulla ; Persson, Camilla ; Sellberg, Gunilla ; Tellhed, Lina ; Nilbert, Mef ; Borg, Åke

Human mutation, 2008-04, Vol.29 (4), p.555-564 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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