logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
B

Bwee Tien Poll-The

university college london
H指数:61
被引数:1.3万

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2020-10-0132
OAAI
Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard, I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

TMEM106B中的复发性从头突变导致低髓性脑白质营养不良

BRAIN
IF11.7
2017-11-290
OAAI
Simons, Cas; Dyment, David; Bent, Stephen J.; Crawford, Joanna; D'Hooghe, Marc; Kohlschuetter, Alfried; Venkateswaran, Sunita; Helman, Guy; Poll-The, Bwee-Tien; Makowski, Christine C.; Ito, Yoko; Kernohan, Kristin; Hartley, Taila; Waisfisz, Quinten; Taft, Ryan J.; van der Knaap, Marjo S.; Wolf, Nicole I.
Diffuse hypomyelination is not obligate for POLR3-related disorders
NEUROLOGY
IF8.5
2016-04-2663
OAAI
La Piana, Roberta; Cayami, Ferdy K.; Tran, Luan T.; Guerrero, Kether; van Spaendonk, Rosalina; Ounap, Katrin; Pajusalu, Sander; Haack, Tobias; Wassmer, Evangeline; Timmann, Dagmar; Mierzewska, Hanna; Poll-The, Bwee T.; Patel, Chirag; Cox, Helen; Atik, Tahir; Onay, Huseyin; Ozkinay, Ferda; Vanderver, Adeline; van der Knaap, Marjo S.; Wolf, Nicole I.; Bernard, Genevieve
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

关于医疗保健专业人员，患者组织和行业在欧洲参考网络中的作用的立场声明

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2016-01-2512
OAAI
Hollak, Carla E. M.; Biegstraaten, Marieke; Baumgartner, Matthias R.; Belmatoug, Nadia; Bembi, Bruno; Bosch, Annet; Brouwers, Martijn; Dekker, Hanka; Dobbelaere, Dries; Engelen, Marc; Groenendijk, Marike C.; Lachmann, Robin; Langendonk, Janneke G.; Langeveld, Mirjam; Linthorst, Gabor; Morava, Eva; Poll-The, Bwee Tien; Rahman, Shamima; Rubio-Gozalbo, M. Estela; Spiekerkoetter, Ute; Treacy, Eileen; Wanders, Ronald; Zschocke, Johannes; Hagendijk, Rob
Pediatric Traumatic Brain Injury and Attention Deficit
PEDIATRICS
IF6.4
2015-09-0142
OAAI
Konigs, Marsh; Heij, Hugo A.; van der Sluijs, Johannes A.; Vermeulen, Jeroen; Goslings, J. Carel; Luitse, Jan S. K.; Poll-The, Bwee Tien; Beelen, Anita; van der Wees, Marleen; Kemps, Rachel J. J. K.; Catsman-Berrevoets, Coriene E.; Oosterlaan, Jaap

研究方向

暂未获取到该数据
R
Ronald J. A. Wanders
H 指数:124论文数:1,150被引数:5.8万
P
P. G. Barth
H 指数:72论文数:431被引数:1.6万
M
Marinus Durán
H 指数:51论文数:510被引数:7,502
M
Marc Engelen
H 指数:38论文数:164被引数:4,996
F
Frank Baas
H 指数:99论文数:553被引数:3.5万
H
Hans R. Waterham
H 指数:83论文数:386被引数:2.2万
C
Charles B.L.M. Majoie
H 指数:90论文数:846被引数:5.0万
M
M. Durán
H 指数:56论文数:407被引数:1.2万
S
Stephan Kemp
H 指数:47论文数:169被引数:1.1万
R
R. Jeroen Vermeulen
H 指数:45论文数:213被引数:6,037