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
M

Marcelo Alves Vargas

children's hospitals & clinics of minnesota
H指数:14
被引数:454

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

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
BRAIN
IF11.7
2021-08-092
OAAI
Salsench, Eva Medico; Maroofian, Reza; Deng, Ruizhi; Lanko, Kristina; Nikoncuk, Anita; Perez, Belen; Sanchez-Lijarcio, Obdulia; Ibanez-Mico, Salvador; Wojcik, Antonina; Vargas, Marcelo; Al-Sannaa, Nouriya Abbas; Girgis, Marian Y.; Silveira, Taina Regina Damaceno; Bauer, Peter; Schroeder, Audrey; Fong, Chin-To; Begtrup, Amber; Babaei, Meisam; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Doosti, Mohammad; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Karimiani, Ehsan Ghayoor; Murphy, David; Cali, Elisa; Kaya, Ibrahim H.; AlMuhaizea, Mohammad; Colak, Dilek; Cardona-Londono, Kelly J.; Arold, Stefan T.; Houlden, Henry; Bertoli-Avella, Aida; Kaya, Namik; Barakat, Tahsin Stefan
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Lamb-shaffer综合征的遗传和临床谱的扩大，这是由于SOX5单倍体不足引起的神经发育障碍

GENETICS IN MEDICINE
IF6.2
2020-03-0125
OAAI
Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick R.; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria J.; Schnur, Rhonda E.; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; Alembik, Yves; Bruel, Ange-Line; Lehalle, Daphne; Nambot, Sophie; Moutton, Sebastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christele; Hilhorst-Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth J.; Masser-Frye, Diane; Bird, Lynne M.; Lindstrom, Kristin; Ramsey, Keri M.; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire G.; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica H.; Klein Wassink-Ruiter, Jolien S.; Bijlsma, Emilia; Hoffer, Mariette J. V.; Vargas, Marcelo; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill A.; Machol, Keren; Scott, Daryl A.; Bacino, Carlos A.; Wang, Xia; Clark, Gary D.; Bertoli, Marta; Zwolinski, Simon; Thomas, Rhys H.; Akay, Ela; Chang, Richard C.; Bressi, Rebekah; Sanchez Russo, Rossana; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie E.; Dupuis, Lucie; Mendoza-Londono, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogne, Benjamin; Kuechler, Alma; Piton, Amelie; Klee, Eric W.; Lefebvre, Veronique; Clark, Karl J.; Depienne, Christel
Mutation update for the SATB2 gene
HUMAN MUTATION
IF3.7
2019-04-2544
OAAI
Zarate, Yuri A.; Bosanko, Katherine A.; Caffrey, Aisling R.; Bernstein, Jonathan A.; Martin, Donna M.; Williams, Marc S.; Berry-Kravis, Elizabeth M.; Mark, Paul R.; Manning, Melanie A.; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H.; Estrada-Veras, Juvianee, I; vanDooren, Marieke F.; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Van Esch, Hilde; Callewaert, Bert; Oostra, Ann; Maclean, Jane; Dentici, Maria Lisa; Orlando, Valeria; Lipson, Mark; Sparagana, Steven P.; Maarup, Timothy J.; Alsters, Suzanne I. M.; Brautbar, Ariel; Kovitch, Eliana; Naidu, Sakkubai; Lees, Melissa; Smith, Douglas M.; Turner, Lesley; Raggio, Victor; Spangenberg, Lucia; Garcia-Minaur, Sixto; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Grange, Dorothy; Pfotenhauer, Jean; Jones, Marilyn C.; Balasubramanian, Meena; Martinez-Monseny, Antonio; Blok, Lot Snijders; Gavrilova, Ralitza; Fish, Jennifer L.

研究方向

暂未获取到该数据
L
Luiz Eduardo Maia Nery
H 指数:24论文数:86被引数:1,682
S
Silvana Allodi
H 指数:22论文数:114被引数:1,672
F
Fábio Everton Maciel
H 指数:14论文数:33被引数:597
M
Márcio Alberto Geihs
H 指数:15论文数:22被引数:574
B
Bruno Pinto Cruz
H 指数:9论文数:20被引数:214
V
Viviane Barneche Fonseca
H 指数:5论文数:6被引数:54
J
Juliana Zomer Sandrini
H 指数:24论文数:53被引数:1,243
A
Antonina Wojcik
H 指数:4论文数:6被引数:94
G
Gabrielle de Jesus Ferreira
H 指数:2论文数:4被引数:32
E
Elizabeth Berry‐Kravis
H 指数:90论文数:553被引数:2.7万