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Wyszukujesz frazę ""Katsanis, Nicholas"" wg kryterium: Autor

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Wyświetlanie 1-20 z 510
Tytuł:
Meta-analysis fine-mapping is often miscalibrated at single-variant resolution
Autorzy:
Zhou, Wei
Kanai, Masahiro
Wu, Kuan-Han H.
Rasheed, Humaira
Tsuo, Kristin
Hirbo, Jibril B.
Wang, Ying
Bhattacharya, Arjun
Zhao, Huiling
Namba, Shinichi
Surakka, Ida
Wolford, Brooke N.
Lo Faro, Valeria
Lopera-Maya, Esteban A.
Läll, Kristi
Favé, Marie-Julie
Partanen, Juulia J.
Chapman, Sinéad B.
Karjalainen, Juha
Kurki, Mitja
Maasha, Mutaamba
Brumpton, Ben M.
Chavan, Sameer
Chen, Tzu-Ting
Daya, Michelle
Ding, Yi
Feng, Yen-Chen A.
Guare, Lindsay A.
Gignoux, Christopher R.
Graham, Sarah E.
Hornsby, Whitney E.
Ingold, Nathan
Ismail, Said I.
Johnson, Ruth
Laisk, Triin
Lin, Kuang
Lv, Jun
Millwood, Iona Y.
Moreno-Grau, Sonia
Nam, Kisung
Palta, Priit
Pandit, Anita
Preuss, Michael H.
Saad, Chadi
Setia-Verma, Shefali
Thorsteinsdottir, Unnur
Uzunovic, Jasmina
Verma, Anurag
Zawistowski, Matthew
Zhong, Xue
Afifi, Nahla
Al-Dabhani, Kawthar M.
Al Thani, Asma
Bradford, Yuki
Campbell, Archie
Crooks, Kristy
de Bock, Geertruida H.
Damrauer, Scott M.
Douville, Nicholas J.
Finer, Sarah
Fritsche, Lars G.
Fthenou, Eleni
Gonzalez-Arroyo, Gilberto
Griffiths, Christopher J.
Guo, Yu
Hunt, Karen A.
Ioannidis, Alexander
Jansonius, Nomdo M.
Konuma, Takahiro
Michael Lee, Ming Ta
Lopez-Pineda, Arturo
Matsuda, Yuta
Marioni, Riccardo E.
Moatamed, Babak
Nava-Aguilar, Marco A.
Numakura, Kensuke
Patil, Snehal
Rafaels, Nicholas
Richmond, Anne
Rojas-Muñoz, Agustin
Shortt, Jonathan A.
Straub, Peter
Tao, Ran
Vanderwerff, Brett
Vernekar, Manvi
Veturi, Yogasudha
Barnes, Kathleen C.
Boezen, Marike
Chen, Zhengming
Chen, Chia-Yen
Cho, Judy
Smith, George Davey
Finucane, Hilary K.
Franke, Lude
Gamazon, Eric R.
Ganna, Andrea
Gaunt, Tom R.
Ge, Tian
Huang, Hailiang
Huffman, Jennifer
Katsanis, Nicholas
Koskela, Jukka T.
Lajonchere, Clara
Law, Matthew H.
Li, Liming
Lindgren, Cecilia M.
Loos, Ruth J.F.
MacGregor, Stuart
Matsuda, Koichi
Olsen, Catherine M.
Porteous, David J.
Shavit, Jordan A.
Snieder, Harold
Takano, Tomohiro
Trembath, Richard C.
Vonk, Judith M.
Whiteman, David C.
Wicks, Stephen J.
Wijmenga, Cisca
Wright, John
Zheng, Jie
Zhou, Xiang
Awadalla, Philip
Boehnke, Michael
Bustamante, Carlos D.
Cox, Nancy J.
Fatumo, Segun
Geschwind, Daniel H.
Hayward, Caroline
Hveem, Kristian
Kenny, Eimear E.
Lee, Seunggeun
Lin, Yen-Feng
Mbarek, Hamdi
Mägi, Reedik
Martin, Hilary C.
Medland, Sarah E.
Okada, Yukinori
Palotie, Aarno V.
Pasaniuc, Bogdan
Rader, Daniel J.
Ritchie, Marylyn D.
Sanna, Serena
Smoller, Jordan W.
Stefansson, Kari
van Heel, David A.
Walters, Robin G.
Zöllner, Sebastian
Biobank of the Americas
Biobank Japan Project
BioMe
BioVU
CanPath - Ontario Health Study
China Kadoorie Biobank Collaborative Group
Colorado Center for Personalized Medicine
deCODE Genetics
Estonian Biobank, FinnGen
Generation Scotland
Genes & Health Research Team
LifeLines
Mass General Brigham Biobank
Michigan Genomics Initiative
National Biobank of Korea
Penn Medicine BioBank
Qatar Biobank
The Qskin Sun and Health Study
Taiwan Biobank
The Hunt Study
Ucla Atlas Community Health Initiative
Uganda Genome Resource
Uk Biobank
Martin, Alicia R.
Willer, Cristen J.
Daly, Mark J.
Neale, Benjamin M.
Elzur, Roy
Pokaż więcej
Źródło:
In Cell Genomics 14 December 2022 2(12)
Czasopismo naukowe
Szczegóły
Tytuł:
Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research
Autorzy:
Lopez-Pineda, Arturo
Vernekar, Manvi
Moreno-Grau, Sonia
Rojas-Muñoz, Agustin
Moatamed, Babak
Lee, Ming Ta Michael
Nava-Aguilar, Marco A.
Gonzalez-Arroyo, Gilberto
Numakura, Kensuke
Matsuda, Yuta
Ioannidis, Alexander
Katsanis, Nicholas
Takano, Tomohiro
Bustamante, Carlos D.
Pokaż więcej
Źródło:
Human Genomics; December 2022, Vol. 16 Issue: 1
Periodyk
Szczegóły
Tytuł:
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Autorzy:
Zhou, Wei
Kanai, Masahiro
Wu, Kuan-Han H.
Rasheed, Humaira
Tsuo, Kristin
Hirbo, Jibril B.
Wang, Ying
Bhattacharya, Arjun
Zhao, Huiling
Namba, Shinichi
Surakka, Ida
Wolford, Brooke N.
Lo Faro, Valeria
Lopera-Maya, Esteban A.
Läll, Kristi
Favé, Marie-Julie
Partanen, Juulia J.
Chapman, Sinéad B.
Karjalainen, Juha
Kurki, Mitja
Maasha, Mutaamba
Brumpton, Ben M.
Chavan, Sameer
Chen, Tzu-Ting
Daya, Michelle
Ding, Yi
Feng, Yen-Chen A.
Guare, Lindsay A.
Gignoux, Christopher R.
Graham, Sarah E.
Hornsby, Whitney E.
Ingold, Nathan
Ismail, Said I.
Johnson, Ruth
Laisk, Triin
Lin, Kuang
Lv, Jun
Millwood, Iona Y.
Moreno-Grau, Sonia
Nam, Kisung
Palta, Priit
Pandit, Anita
Preuss, Michael H.
Saad, Chadi
Setia-Verma, Shefali
Thorsteinsdottir, Unnur
Uzunovic, Jasmina
Verma, Anurag
Zawistowski, Matthew
Zhong, Xue
Afifi, Nahla
Al-Dabhani, Kawthar M.
Al Thani, Asma
Bradford, Yuki
Campbell, Archie
Crooks, Kristy
de Bock, Geertruida H.
Damrauer, Scott M.
Douville, Nicholas J.
Finer, Sarah
Fritsche, Lars G.
Fthenou, Eleni
Gonzalez-Arroyo, Gilberto
Griffiths, Christopher J.
Guo, Yu
Hunt, Karen A.
Ioannidis, Alexander
Jansonius, Nomdo M.
Konuma, Takahiro
Lee, Ming Ta Michael
Lopez-Pineda, Arturo
Matsuda, Yuta
Marioni, Riccardo E.
Moatamed, Babak
Nava-Aguilar, Marco A.
Numakura, Kensuke
Patil, Snehal
Rafaels, Nicholas
Richmond, Anne
Rojas-Muñoz, Agustin
Shortt, Jonathan A.
Straub, Peter
Tao, Ran
Vanderwerff, Brett
Vernekar, Manvi
Veturi, Yogasudha
Barnes, Kathleen C.
Boezen, Marike
Chen, Zhengming
Chen, Chia-Yen
Cho, Judy
Smith, George Davey
Finucane, Hilary K.
Franke, Lude
Gamazon, Eric R.
Ganna, Andrea
Gaunt, Tom R.
Ge, Tian
Huang, Hailiang
Huffman, Jennifer
Katsanis, Nicholas
Koskela, Jukka T.
Lajonchere, Clara
Law, Matthew H.
Li, Liming
Lindgren, Cecilia M.
Loos, Ruth J.F.
MacGregor, Stuart
Matsuda, Koichi
Olsen, Catherine M.
Porteous, David J.
Shavit, Jordan A.
Snieder, Harold
Takano, Tomohiro
Trembath, Richard C.
Vonk, Judith M.
Whiteman, David C.
Wicks, Stephen J.
Wijmenga, Cisca
Wright, John
Zheng, Jie
Zhou, Xiang
Awadalla, Philip
Boehnke, Michael
Bustamante, Carlos D.
Cox, Nancy J.
Fatumo, Segun
Geschwind, Daniel H.
Hayward, Caroline
Hveem, Kristian
Kenny, Eimear E.
Lee, Seunggeun
Lin, Yen-Feng
Mbarek, Hamdi
Mägi, Reedik
Martin, Hilary C.
Medland, Sarah E.
Okada, Yukinori
Palotie, Aarno V.
Pasaniuc, Bogdan
Rader, Daniel J.
Ritchie, Marylyn D.
Sanna, Serena
Smoller, Jordan W.
Stefansson, Kari
van Heel, David A.
Walters, Robin G.
Zöllner, Sebastian
Martin, Alicia R.
Willer, Cristen J.
Daly, Mark J.
Neale, Benjamin M.
Pokaż więcej
Źródło:
In Cell Genomics 12 October 2022 2(10)
Czasopismo naukowe
Szczegóły
Tytuł:
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.
Autorzy:
Ullah, Farid (AUTHOR)
Rauf, Waqar (AUTHOR)
Khan, Kamal (AUTHOR)
Khan, Sheraz (AUTHOR)
Bell, Katrina M. (AUTHOR)
de Oliveira, Vanessa Cristina (AUTHOR)
Tariq, Muhammad (AUTHOR)
Bakhshalizadeh, Shabnam (AUTHOR)
Touraine, Philippe (AUTHOR)
Katsanis, Nicholas (AUTHOR)
Sinclair, Andrew (AUTHOR)
He, Sijie (AUTHOR)
Tucker, Elena J. (AUTHOR)
Baig, Shahid M. (AUTHOR)
Davis, Erica E. (AUTHOR)
Pokaż więcej
Źródło:
Human Genetics. Dec2021, Vol. 140 Issue 12, p1733-1751. 19p.
Czasopismo naukowe
Szczegóły
Tytuł:
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia
Autorzy:
Monroe, Tanner O.Aff1, Aff2
Garrett, Melanie E.
Kousi, Maria
Rodriguiz, Ramona M.Aff5, Aff6
Moon, Sungjin
Bai, Yushi
Brodar, Steven C.
Soldano, Karen L.
Savage, Jeremiah
Hansen, Thomas F.Aff10, Aff11
Muzny, Donna M.Aff12, Aff13
Gibbs, Richard A.Aff12, Aff13
Barak, Lawrence
Sullivan, Patrick F.Aff14, Aff15, Aff16
Ashley-Koch, Allison E.
Sawa, AkiraAff17, Aff18, Aff19, Aff20
Wetsel, William C.Aff5, Aff6, Aff8, Aff21
Werge, ThomasAff10, Aff11, Aff22, Aff23
Katsanis, NicholasAff1, Aff2, IDs41467020196375_cor19
Pokaż więcej
Źródło:
Nature Communications. 11(1)
Czasopismo naukowe
Szczegóły
Tytuł:
Candidate variants in TUB are associated with familial tremor.
Autorzy:
Sailani MR; Department of Genetics, Stanford University, Stanford, CA, United States of America.
Jahanbani F; Department of Genetics, Stanford University, Stanford, CA, United States of America.
Abbott CW; Department of Genetics, Stanford University, Stanford, CA, United States of America.
Lee H; Department of Genetics, Stanford University, Stanford, CA, United States of America.
Zia A; Department of Genetics, Stanford University, Stanford, CA, United States of America.
Rego S; Department of Genetics, Stanford University, Stanford, CA, United States of America.
Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
Hopfner F; Department of Neurology, Kiel University, Germany.; Department of Neurology, Hannover Medical School, Hannover, Germany.
Khan TN; Center for Human Disease Modeling, Duke University, United States of America.
Katsanis N; Center for Human Disease Modeling, Duke University, United States of America.; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, United States of America.; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, United States of America.
Müller SH; Department of Neurology, Kiel University, Germany.
Berg D; Department of Neurology, Kiel University, Germany.; Department of Neurology, Universitätsklinikum Tübingen, Germany.
Lyman KM; Department of Genetics, Stanford University, Stanford, CA, United States of America.
Mychajliw C; University Hospital Tübingen, Department of Psychiatry and Psychotherapy, Tübingen, Germany.
Deuschl G; Department of Neurology, Kiel University, Germany.
Bernstein JA; Department of Pediatrics, Stanford University, Stanford, CA, United States of America.
Kuhlenbäumer G; Department of Neurology, Kiel University, Germany.
Snyder MP; Department of Genetics, Stanford University, Stanford, CA, United States of America.
Pokaż więcej
Źródło:
PLoS genetics [PLoS Genet] 2020 Sep 21; Vol. 16 (9), pp. e1009010. Date of Electronic Publication: 2020 Sep 21 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Adaptor Proteins, Signal Transducing/*genetics
Essential Tremor/*genetics
Adaptor Proteins, Signal Transducing/metabolism ; Aged ; Aged, 80 and over ; Animals ; Chromatin Immunoprecipitation Sequencing/methods ; Cohort Studies ; Exome/genetics ; Family ; Female ; Humans ; Male ; Mice, Inbred C57BL ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Transcription Factors/genetics ; Exome Sequencing/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Autorzy:
Cogné, Benjamin (AUTHOR)
Latypova, Xenia (AUTHOR)
Senaratne, Lokuliyanage Dona Samudita (AUTHOR)
Martin, Ludovic (AUTHOR)
Koboldt, Daniel C. (AUTHOR)
Kellaris, Georgios (AUTHOR)
Fievet, Lorraine (AUTHOR)
Le Meur, Guylène (AUTHOR)
Caldari, Dominique (AUTHOR)
Debray, Dominique (AUTHOR)
Nizon, Mathilde (AUTHOR)
Frengen, Eirik (AUTHOR)
Bowne, Sara J. (AUTHOR)
Cadena, Elizabeth L. (AUTHOR)
Daiger, Stephen P. (AUTHOR)
Bujakowska, Kinga M. (AUTHOR)
Pierce, Eric A. (AUTHOR)
Gorin, Michael (AUTHOR)
Katsanis, Nicholas (AUTHOR)
Bézieau, Stéphane (AUTHOR)
Pokaż więcej
Źródło:
American Journal of Human Genetics. Jun2020, Vol. 106 Issue 6, p893-904. 12p.
Czasopismo naukowe
Szczegóły
Tytuł:
CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Autorzy:
Mizumoto, Shuji
Janecke, Andreas R.
Sadeghpour, Azita
Povysil, Gundula
McDonald, Marie T.
Unger, Sheila
Greber‐Platzer, Susanne
Deak, Kristen L.
Katsanis, Nicholas
Superti‐Furga, Andrea
Sugahara, Kazuyuki
Davis, Erica E.
Yamada, Shuhei
Vodopiutz, Julia
Pokaż więcej
Źródło:
Human Mutation; Mar2020, Vol. 41 Issue 3, p655-667, 13p
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 510

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