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B

Beat Thöny

nih national human genome research institute (nhgri)
H指数:49
被引数:8,599

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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (vol 139, 107624, 2023)
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-08-011
OAAI
Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Gumus, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Hubschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thony, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-07-0111
OAAI
Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Guemues, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Huebschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thoeny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad
In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels

猕猴体内PCSK9的腺嘌呤碱基编辑可降低LDL胆固醇水平

NATURE BIOTECHNOLOGY
IF41.7
2021-05-19246
OAAI
Rothgangl, Tanja; Dennis, Melissa K.; Lin, Paulo J. C.; Oka, Rurika; Witzigmann, Dominik; Villiger, Lukas; Qi, Weihong; Hruzova, Martina; Kissling, Lucas; Lenggenhager, Daniela; Borrelli, Costanza; Egli, Sabina; Frey, Nina; Bakker, Noelle; Walker, John A., II; Kadina, Anastasia P.; Victorov, Denis V.; Pacesa, Martin; Kreutzer, Susanne; Kontarakis, Zacharias; Moor, Andreas; Jinek, Martin; Weissman, Drew; Stoffel, Markus; van Boxtel, Ruben; Holden, Kevin; Pardi, Norbert; Thoeny, Beat; Haeberle, Johannes; Tam, Ying K.; Semple, Sean C.; Schwank, Gerald
Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes
MOLECULAR THERAPY
IF12
2021-05-0113
OAAI
Zabulica, Mihaela; Srinivasan, Raghuraman C.; Akcakaya, Pinar; Allegri, Gabriella; Bestas, Burcu; Firth, Mike; Hammarstedt, Christina; Jakobsson, Tomas; Jakobsson, Towe; Ellis, Ewa; Jorns, Carl; Makris, Georgios; Scherer, Tanja; Rimann, Nicole; van Zuydam, Natalie R.; Gramignoli, Roberto; Forslow, Anna; Engberg, Susanna; Maresca, Marcello; Rooyackers, Olav; Thony, Beat; Haberle, Johannes; Rosen, Barry; Strom, Stephen C.
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
JOURNAL OF MEDICAL GENETICS
IF3.7
2017-08-0933
OA
van Spronsen, Francjan J.; Himmelreich, Nastassja; Rufenacht, Veronique; Shen, Nan; van Vliet, Danique; Al-Owain, Mohammed; Ramzan, Khushnooda; Alkhalifi, Salwa M.; Lunsing, Roelineke J.; Heiner-Fokkema, Rebecca M.; Rassi, Anahita; Gemperle-Britschgi, Corinne; Hoffmann, Georg F.; Blau, Nenad; Thony, Beat

研究方向

暂未获取到该数据
N
Nenad Blau
H 指数:75论文数:704被引数:2.2万
J
Johannes Häberle
H 指数:49论文数:455被引数:9,441
C
Cary O. Harding
H 指数:43论文数:196被引数:5,882
A
Aurora Martı́nez
H 指数:47论文数:263被引数:7,621
T
Tanja Scherer
H 指数:13论文数:32被引数:565
G
Gabriella Allegri
H 指数:14论文数:38被引数:926
N
Nastassja Himmelreich
H 指数:15论文数:52被引数:770
G
Georg F. Hoffmann
H 指数:101论文数:1,118被引数:3.8万
D
David Meili
H 指数:8论文数:20被引数:489
M
Mariarita Bertoldi
H 指数:27论文数:133被引数:2,659