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Wyszukujesz frazę ""Vairo, Filippo"" wg kryterium: Autor


Tytuł:
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies
Autorzy:
Winckler, Pablo BreaAff1, Aff2
Chwal, Bruna Cristine
Dos Santos, Marco Antonnio RochaAff1, Aff2
Burguêz, Daniela
Polese-Bonatto, Marcia
Zanoteli, Edmar
Siebert, MarinaAff5, Aff6, Aff7
Vairo, Filippo Pinto e
Chaves, Márcia Lorena FagundesAff1, Aff2, Aff9
Saute, Jonas Alex MoralesAff1, Aff2, Aff3, Aff9, IDs1007202205934y_cor10
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Źródło:
Neurological Sciences. 43(7):4473-4481
Czasopismo naukowe
Tytuł:
Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report
Autorzy:
Wilke, Matheus V. M. B.
Morava-Kozicz, EvaAff2, Aff3, IDs4192702200281z_cor2
Koster, Matthew J.
Schmitz, Christopher T.Aff1, Aff3
Foster, Shannon Kaye
Patnaik, Mrinal
Warrington, Kenneth J.
Klee, Eric W.Aff1, Aff2, Aff7
Pinto e Vairo, FilippoAff1, Aff2
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Źródło:
BMC Rheumatology. 6(1)
Czasopismo naukowe
Tytuł:
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Autorzy:
Cousin, Margot A.Aff1, Aff2
Veale, Emma L.
Dsouza, Nikita R.
Tripathi, Swarnendu
Holden, Robyn G.
Arelin, Maria
Beek, Geoffrey
Bekheirnia, Mir Reza
Beygo, Jasmin
Bhambhani, Vikas
Bialer, Martin
Bigoni, Stefania
Boelman, Cyrus
Carmichael, Jenny
Courtin, Thomas
Cogne, Benjamin
Dabaj, IvanaAff15, Aff16
Doummar, Diane
Fazilleau, Laura
Ferlini, Alessandra
Gavrilova, Ralitza H.Aff2, Aff19
Graham, Jr, John M.
Haack, Tobias B.Aff21, Aff22
Juusola, Jane
Kant, Sarina G.Aff24, Aff25
Kayani, Saima
Keren, Boris
Ketteler, PetraAff8, Aff28
Klöckner, Chiara
Koopmann, Tamara T.
Kruisselbrink, Teresa M.Aff2, Aff19
Kuechler, Alma
Lambert, LaëtitiaAff30, Aff31
Latypova, Xénia
Lebel, Robert Roger
Leduc, Magalie S.
Leonardi, EmanuelaAff33, Aff34
Lewis, Andrea M.
Liew, Wendy
Machol, KerenAff7, Aff36
Mardini, Samir
McWalter, Kirsty
Mignot, Cyril
McLaughlin, Julie
Murgia, AlessandraAff33, Aff34
Narayanan, Vinodh
Nava, Caroline
Neuser, Sonja
Nizon, Mathilde
Ognibene, Davide
Park, Joohyun
Platzer, Konrad
Poirsier, Céline
Radtke, Maximilian
Ramsey, Keri
Runke, Cassandra K.
Guillen Sacoto, Maria J.
Scaglia, FernandoAff7, Aff36, Aff40
Shinawi, Marwan
Spranger, Stephanie
Tan, Ee Shien
Taylor, John
Trentesaux, Anne-Sophie
Vairo, FilippoAff2, Aff19
Willaert, Rebecca
Zadeh, NedaAff43, Aff44
Urrutia, RaulAff4, Aff45
Babovic-Vuksanovic, DusicaAff2, Aff19
Zimmermann, Michael T.Aff4, Aff46, Aff47, IDs13073022010644_cor69
Mathie, AlistairAff3, Aff48, IDs13073022010644_cor70
Klee, Eric W.Aff1, Aff2, Aff19, IDs13073022010644_cor71
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Źródło:
Genome Medicine. 14(1)
Czasopismo naukowe
Tytuł:
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center
Autorzy:
Magalhães, Ana Paula Pereira Scholz de
Burin, Maira Graeff
Souza, Carolina Fischinger Moura de
Bitencourt, Fernanda Hendges de
Sebastião, Fernanda Medeiros
Silva, Thiago Oliveira
Vairo, Filippo Pinto e
Schwartz, Ida Vanessa Doederlein
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Alternatywny tytuł:
Isoeletrofocalização da transferrina para investigação das doenças congênitas da glicosilação: análise de dez anos de experiência de um centro brasileiro (Portuguese)
Źródło:
In Jornal de Pediatria (Versão em Português) November-December 2020 96(6):710-716
Czasopismo naukowe
Tytuł:
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Autorzy:
Pena, Loren
Shashi, Vandana
Schoch, Kelly
Sullivan, Jennifer A.
Acosta, Maria T.
Adams, David R.
Aday, Aaron
Alejandro, Mercedes E.
Allard, Patrick
Ashley, Euan A.
Azamian, Mahshid S.
Bacino, Carlos A.
Bademci, Guney
Baker, Eva
Balasubramanyam, Ashok
Baldridge, Dustin
Barbouth, Deborah
Batzli, Gabriel F.
Beggs, Alan H.
Bellen, Hugo J.
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bick, David P.
Birch, Camille L.
Bivona, Stephanie
Bonnenmann, Carsten
Bonner, Devon
Boone, Braden E.
Bostwick, Bret L.
Briere, Lauren C.
Brokamp, Elly
Brown, Donna M.
Brush, Matthew
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Carrasquillo, Olveen
Peter Chang, Ta Chen
Chao, Hsiao-Tuan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Cole, F. Sessions
Colley, Heather A.
Cooper, Cynthia M.
Cope, Heidi
Craigen, William J.
D'Souza, Precilla
Dasari, Surendra
Davids, Mariska
Davidson, Jean M.
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dhar, Shweta U.
Dorrani, Naghmeh
Dorset, Daniel C.
Douine, Emilie D.
Draper, David D.
Dries, Annika M.
Duncan, Laura
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Enns, Gregory M.
Esteves, Cecilia
Estwick, Tyra
Fernandez, Liliana
Ferreira, Carlos
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Friedman, Noah D.
Gahl, William A.
Godfrey, Rena A.
Goldman, Alica M.
Goldstein, David B.
Gourdine, Jean-Philippe F.
Grajewski, Alana
Groden, Catherine A.
Gropman, Andrea L.
Haendel, Melissa
Hamid, Rizwan
Hanchard, Neil A.
High, Frances
Holm, Ingrid A.
Hom, Jason
Huang, Alden
Huang, Yong
Isasi, Rosario
Jamal, Fariha
Jiang, Yong-hui
Johnston, Jean M.
Jones, Angela L.
Karaviti, Lefkothea
Kelley, Emily G.
Koeller, David M.
Kohane, Isaac S.
Kohler, Jennefer N.
Krakow, Deborah
Krasnewich, Donna M.
Korrick, Susan
Koziura, Mary
Krier, Joel B.
Kyle, Jennifer E.
Lalani, Seema R.
Lam, Byron
Lanpher, Brendan C.
Lanza, Ian R.
Lau, C. Christopher
Lazar, Jozef
LeBlanc, Kimberly
Lee, Brendan H.
Lee, Hane
Levitt, Roy
Levy, Shawn E.
Lewis, Richard A.
Lincoln, Sharyn A.
Liu, Pengfei
Liu, Xue Zhong
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Majcherska, Marta M.
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Markello, Thomas C.
Marom, Ronit
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
May, Thomas
McCauley, Jacob
McConkie-Rosell, Allyn
McCormack, Colleen E.
McCray, Alexa T.
Merker, Jason D.
Metz, Thomas O.
Might, Matthew
Morava-Kozicz, Eva
Moretti, Paolo M.
Morimoto, Marie
Mulvihill, John J.
Murdock, David R.
Nath, Avi
Nelson, Stan F.
Newberry, J. Scott
Newman, John H.
Nicholas, Sarah K.
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pak, Stephen
Pallais, J. Carl
Palmer, Christina GS.
Papp, Jeanette C.
Parker, Neil H.
Phillips, John A., III
Posey, Jennifer E.
Postlethwait, John H.
Potocki, Lorraine
Pusey, Barbara N.
Renteri, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rowley, Robb K.
Sacco, Ralph
Sampson, Jacinda B.
Samson, Susan L.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Scott, Daryl A.
Shakachite, Lisa
Sharma, Prashant
Shields, Kathleen
Shin, Jimann
Signer, Rebecca
Sillari, Catherine H.
Silverman, Edwin K.
Sinsheimer, Janet S.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Spillmann, Rebecca C.
Stoler, Joan M.
Stong, Nicholas
Sweetser, David A.
Tamburro, Cecelia P.
Tan, Queenie K.-G.
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Urv, Tiina K.
Vogel, Tiphanie P.
Waggott, Daryl M.
Wahl, Colleen E.
Walley, Nicole M.
Walsh, Chris A.
Walker, Melissa
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Waters, Katrina M.
Webb-Robertson, Bobbie-Jo M.
Wegner, Daniel
Westerfield, Monte
Wheeler, Matthew T.
Wise, Anastasia L.
Wolfe, Lynne A.
Woods, Jeremy D.
Worthey, Elizabeth A.
Yamamoto, Shinya
Yang, John
Yoon, Amanda J.
Yu, Guoyun
Zastrow, Diane B.
Zhao, Chunli
Zuchner, Stephan
Gahl, William
Johnson, Brett V.
Kumar, Raman
Oishi, Sabrina
Alexander, Suzy
Kasherman, Maria
Vega, Michelle Sanchez
Ivancevic, Atma
Gardner, Alison
Domingo, Deepti
Corbett, Mark
Parnell, Euan
Yoon, Sehyoun
Oh, Tracey
Lines, Matthew
Lefroy, Henrietta
Kini, Usha
Van Allen, Margot
Grønborg, Sabine
Mercier, Sandra
Küry, Sébastien
Bézieau, Stéphane
Pasquier, Laurent
Raynaud, Martine
Afenjar, Alexandra
Billette de Villemeur, Thierry
Keren, Boris
Désir, Julie
Van Maldergem, Lionel
Marangoni, Martina
Dikow, Nicola
Koolen, David A.
VanHasselt, Peter M.
Weiss, Marjan
Zwijnenburg, Petra
Sa, Joaquim
Reis, Claudia Falcao
López-Otín, Carlos
Santiago-Fernández, Olaya
Fernández-Jaén, Alberto
Rauch, Anita
Steindl, Katharina
Joset, Pascal
Goldstein, Amy
Madan-Khetarpal, Suneeta
Infante, Elena
Zackai, Elaine
Mcdougall, Carey
Narayanan, Vinodh
Ramsey, Keri
Mercimek-Andrews, Saadet
Pinto e Vairo, Filippo
Pichurin, Pavel N.
Ewing, Sarah A.
Barnett, Sarah S.
Klee, Eric W.
Perry, M. Scott
Koenig, Mary Kay
Keegan, Catherine E.
Schuette, Jane L.
Asher, Stephanie
Perilla-Young, Yezmin
Smith, Laurie D.
Bhoj, Elizabeth
Kaplan, Paige
Li, Dong
Oegema, Renske
van Binsbergen, Ellen
van der Zwaag, Bert
Smeland, Marie Falkenberg
Cutcutache, Ioana
Page, Matthew
Armstrong, Martin
Lin, Angela E.
Steeves, Marcie A.
Hollander, Nicolette den
Hoffer, Mariëtte J.V.
Reijnders, Margot R.F.
Demirdas, Serwet
Koboldt, Daniel C.
Bartholomew, Dennis
Mosher, Theresa Mihalic
Hickey, Scott E.
Shieh, Christine
Sanchez-Lara, Pedro A.
Graham, John M., Jr.
Tezcan, Kamer
Schaefer, G.B.
Danylchuk, Noelle R.
Asamoah, Alexander
Jackson, Kelly E.
Yachelevich, Naomi
Au, Margaret
Pérez-Jurado, Luis A.
Kleefstra, Tjitske
Penzes, Peter
Wood, Stephen A.
Burne, Thomas
Pierson, Tyler Mark
Piper, Michael
Gécz, Jozef
Jolly, Lachlan A.
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Źródło:
In Biological Psychiatry 15 January 2020 87(2):100-112
Czasopismo naukowe
Tytuł:
Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn’s Disease
Autorzy:
Macke, Erica L.
Pinto e Vairo, FilippoAff1, Aff2
Manian, Deepti Vellaichamy
Smith, Angela R.
Kemppainen, Jennifer L.
Klee, Eric W.Aff1, Aff2, Aff5
Stephens, Michael C.Aff1, Aff6
Joshi, Avni Y.Aff7, Aff8
Pokaż więcej
Źródło:
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 40(7):1056-1061
Czasopismo naukowe

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