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科言猫学术研究的AI总结
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Z

Zineb Ammous

Community Health Clinic
H指数:10
被引数:250

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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
NATURE COMMUNICATIONS
IF15.7
2022-11-0420
OAAI
Grange, Laura J.; Reynolds, John J.; Ullah, Farid; Isidor, Bertrand; Shearer, Robert F.; Latypova, Xenia; Baxley, Ryan M.; Oliver, Antony W.; Ganesh, Anil; Cooke, Sophie L.; Jhujh, Satpal S.; McNee, Gavin S.; Hollingworth, Robert; Higgs, Martin R.; Natsume, Toyoaki; Khan, Tahir; Martos-Moreno, Gabriel A.; Chupp, Sharon; Mathew, Christopher G.; Parry, David; Simpson, Michael A.; Nahavandi, Nahid; Yuksel, Zafer; Drasdo, Mojgan; Kron, Anja; Vogt, Petra; Jonasson, Annemarie; Seth, Saad Ahmed; Gonzaga-Jauregui, Claudia; Brigatti, Karlla W.; Stegmann, Alexander P. A.; Kanemaki, Masato; Josifova, Dragana; Uchiyama, Yuri; Oh, Yukiko; Morimoto, Akira; Osaka, Hitoshi; Ammous, Zineb; Argente, Jesus; Matsumoto, Naomichi; Stumpel, Constance T. R. M.; Taylor, Alexander M. R.; Jackson, Andrew P.; Bielinsky, Anja-Katrin; Mailand, Niels; Le Caignec, Cedric; Davis, Erica E.; Stewart, Grant S.
RSRCI loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
BRAIN
IF11.7
2020-03-307
OAAI
Scala, Marcello; Mojarrad, Majid; Riazuddin, Saima; Brigatti, Karlla W.; Ammous, Zineb; Cohen, Julie S.; Hosny, Heba; Usmani, Muhammad A.; Shahzad, Mohsin; Riazuddin, Sheikh; Stanley, Valentina; Eslahi, Atiye; Person, Richard E.; Elbendary, Hasnaa M.; Comi, Anne M.; Poskitt, Laura; Salpietro, Vincenzo; Rosenfeld, Jill A.; Williams, Katie B.; Marafi, Dana; Xia, Fan; Waberski, Marta Biderman; Zaki, Maha S.; Gleeson, Joseph; Puffenberger, Erik; Houlden, Henry; Maroofian, Reza
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier
MOLECULAR GENETICS AND METABOLISM
IF3.5
2019-04-0133
PREAI
Bowser, Lauren E.; Young, Millie; Wenger, Olivia K.; Ammous, Zineb; Brigatti, Karlla W.; Carson, Vincent J.; Moser, Teresa; Deline, James; Aoki, Kazuhiro; Morlet, Thierry; Scott, Ethan M.; Puffenberger, Erik G.; Robinson, Donna L.; Hendrickson, Christine; Salvin, Jonathan; Gottlieb, Steven; Heaps, Adam D.; Tiemeyer, Michael; Strauss, Kevin A.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-11-0122
OAAI
Morimoto, Marie; Waller-Evans, Helen; Ammous, Zineb; Song, Xiaofei; Strauss, Kevin A.; Pehlivan, Davut; Gonzaga-Jauregui, Claudia; Puffenberger, Erik G.; Holst, Charles R.; Karaca, Ender; Brigatti, Karlla W.; Maguire, Emily; Coban-Akdemir, Zeynep H.; Amagata, Akiko; Lau, C. Christopher; Chepa-Lotrea, Xenia; Macnamara, Ellen; Tos, Tulay; Isikay, Sedat; Nehrebecky, Michele; Overton, John D.; Klein, Matthew; Markello, Thomas C.; Posey, Jennifer E.; Adams, David R.; Lloyd-Evans, Emyr; Lupski, James R.; Gahl, William A.; Malicdan, May Christine V.

研究方向

暂未获取到该数据
K
Karlla W. Brigatti
H 指数:20论文数:56被引数:1,751
E
Erik G. Puffenberger
H 指数:55论文数:138被引数:1.1万
C
Claudia Gonzaga‐Jauregui
H 指数:48论文数:163被引数:1.3万
R
Ryan Himes
H 指数:34论文数:105被引数:3,824
E
Ethan M. Scott
H 指数:7论文数:15被引数:232
N
Nicole L. Bertsch
H 指数:6论文数:13被引数:202
K
Kevin A. Strauss
H 指数:55论文数:187被引数:9,790
S
Sirish Palle
H 指数:13论文数:46被引数:448
O
Olivia Wenger
H 指数:12论文数:29被引数:575
R
Rhonda Anderson
H 指数:5论文数:57被引数:129