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Wyszukujesz frazę ""Wagner, Matias"" wg kryterium: Autor


Tytuł:
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)
Autorzy:
Gippert, Sebastian
Wagner, MatiasAff2, Aff3
Brunet, TheresaAff2, Aff4
Berruti, Riccardo
Brugger, Melanie
Schwaibold, Eva M. C.
Haack, Tobias B.
Hoffmann, Georg F.
Bettendorf, Markus
Choukair, DanielaAff1, IDs12020023035817_cor10
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Źródło:
Endocrine: International Journal of Basic and Clinical Endocrinology. 85(1):444-453
Czasopismo naukowe
Tytuł:
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
Autorzy:
Krenn, MartinAff1, Aff2
Wagner, MatiasAff3, Aff4
Zulehner, GudrunAff1, Aff2
Weng, RosaAff1, Aff2
Jäger, FionaAff1, Aff2
Keritam, OmarAff1, Aff2
Sener, MerveAff1, Aff2
Brücke, ChristofAff1, Aff2
Milenkovic, IvanAff1, Aff2
Langer, AgnesAff1, Aff2
Buchinger, DominicAff1, Aff2
Habersam, RichardAff1, Aff2
Mayerhanser, Katharina
Brugger, Melanie
Brunet, TheresaAff3, Aff5
Jacob, Maureen
Graf, Elisabeth
Berutti, RiccardoAff3, Aff4
Cetin, HakanAff1, Aff2
Hoefele, Julia
Winkelmann, JulianeAff3, Aff4
Zimprich, FritzAff1, Aff2
Rath, JakobAff1, Aff2, IDs00415023121016_cor23
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Źródło:
Journal of Neurology. 271(4):1937-1946
Czasopismo naukowe
Tytuł:
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
Autorzy:
Silvaieh, SaraAff1, Aff2
König, TheresaAff1, Aff2
Wurm, RaphaelAff1, Aff2
Parvizi, TandisAff1, Aff2
Berger-Sieczkowski, EvelynAff1, Aff2
Goeschl, StellaAff1, Aff2
Hotzy, ChristophAff1, Aff2
Wagner, MatiasAff3, Aff4
Berutti, Riccardo
Sammler, EstherAff5, Aff6
Stögmann, ElisabethAff1, Aff2, IDs40246023005250_cor11
Zimprich, AlexanderAff1, Aff2
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Źródło:
Human Genomics. 17(1)
Czasopismo naukowe
Tytuł:
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
Autorzy:
Silvaieh, SaraAff1, Aff2
König, TheresaAff1, Aff2
Wurm, RaphaelAff1, Aff2
Parvizi, TandisAff1, Aff2
Berger-Sieczkowski, EvelynAff1, Aff2
Goeschl, StellaAff1, Aff2
Hotzy, ChristophAff1, Aff2
Wagner, MatiasAff3, Aff4
Berutti, Riccardo
Sammler, EstherAff5, Aff6
Stögmann, ElisabethAff1, Aff2, IDs4024602300499z_cor11
Zimprich, AlexanderAff1, Aff2
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Źródło:
Human Genomics. 17(1)
Czasopismo naukowe
Tytuł:
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
Autorzy:
Acosta, Maria T.
Adam, Margaret
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Amendola, Laura
Andrews, Ashley
Ashley, Euan A.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Berg-Rood, Beverly
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Boyd, Brenna
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Chang, Ta Chen Peter
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Golden-Grant, Katie
Grajewski, Alana
Hadley, Don
Hahn, Sihoun
Halley, Meghan C.
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jamal, Fariha
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Karaviti, Lefkothea
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Kozuira, Mary
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, Audrey Stephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Maravilla, Kenneth
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Mefford, Heather
Merritt, J. Lawrence
Might, Matthew
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Mulvihill, John
Nakano-Okuno, Mariko
Nelson, Stanley F.
Newman, John H.
Nicholas, Sarah K.
Nickerson, Deborah
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Palmer, Christina G.S.
Papp, Jeanette C.
Parker, Neil H.
Phillips III, John A.
Posey, Jennifer E.
Potocki, Lorraine
Pusey Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind, Wendy
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Scott, C. Ron
Seto, Elaine
Shashi, Vandana
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Wallace, Stephanie
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Weisz Hubshman, Monika
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Paul, Maimuna S.
Michener, Sydney L.
Pan, Hongling
Chan, Hiuling
Pfliger, Jessica M.
Lerma, Vanesa C.
Tran, Alyssa
Longley, Megan A.
Weisz-Hubshman, Monika
Bekheirnia, Mir Reza
Bekheirnia, Nasim
Massingham, Lauren
Zech, Michael
Wagner, Matias
Engels, Hartmut
Cremer, Kirsten
Mangold, Elisabeth
Peters, Sophia
Trautmann, Jessica
Perne, Claudia
Mester, Jessica L.
Guillen Sacoto, Maria J.
Person, Richard
McDonnell, Pamela P.
Cohen, Stacey R.
Lusk, Laina
Cohen, Ana S.A.
Le Pichon, Jean-Baptiste
Pastinen, Tomi
Zhou, Dihong
Engleman, Kendra
Racine, Caroline
Faivre, Laurence
Moutton, Sébastien
Denommé-Pichon, Anne-Sophie
Koh, Hyun Yong
Poduri, Annapurna
Bolton, Jeffrey
Knopp, Cordula
Julia Suh, Dong Sun
Maier, Andrea
Toosi, Mehran Beiraghi
Karimiani, Ehsan Ghayoor
Maroofian, Reza
Schaefer, Gerald Bradley
Ramakumaran, Vijayalakshmi
Vasudevan, Pradeep
Banos-Pinero, Benito
Pagnamenta, Alistair T.
Prasad, Chitra
Osmond, Matthew
Schuhmann, Sarah
Vasileiou, Georgia
Russ-Hall, Sophie
Scheffer, Ingrid E.
Carvill, Gemma L.
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Źródło:
In The American Journal of Human Genetics 4 January 2024 111(1):96-118
Czasopismo naukowe
Tytuł:
Fast versus slow disease progression in amyotrophic lateral sclerosis–clinical and genetic factors at the edges of the survival spectrum
Autorzy:
Witzel, Simon
Wagner, Matias
Zhao, Chen
Kandler, Katharina
Graf, Elisabeth
Berutti, Riccardo
Oexle, Konrad
Brenner, David
Winkelmann, Juliane
Ludolph, Albert C.
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Źródło:
In Neurobiology of Aging November 2022 119:117-126
Czasopismo naukowe
Tytuł:
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Autorzy:
Kreienkamp, Hans-Jürgen
Wagner, Matias
Weigand, Heike
McConkie-Rossell, Allyn
McDonald, Marie
Keren, Boris
Mignot, Cyril
Gauthier, JulieAff6, Aff7
Soucy, Jean-FrançoisAff6, Aff7
Michaud, Jacques L.Aff6, Aff7
Dumas, Meghan
Smith, Rosemarie
Löbel, Ulrike
Hempel, Maja
Kubisch, Christian
Denecke, Jonas
Campeau, Philippe M.
Bain, Jennifer M.
Lessel, DavorAff1, IDs0043902102412x_cor19
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Źródło:
Human Genetics. 141(2):257-272
Czasopismo naukowe

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