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科言猫学术研究的AI总结
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I

Idit Maya

Tel Aviv University
H指数:22
被引数:1,498

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KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome

KDM2B基因在CxxC结构域中的变异会损害其DNA结合能力，并导致一种独特的神经发育综合征。

HUMAN MOLECULAR GENETICS
IF3.2
2025-05-270
OA
van Oirsouw, Amber S. E.; Hadders, Michael A.; Koetsier, Martijn; Peters, Edith D. J.; Batzir, Nurit Assia; Barakat, Tahsin Stefan; Baralle, Diana; Beil, Adelyn; Bonnet-Dupeyron, Marie-Noelle; Boone, Philip M.; Bouman, Arjan; Carere, Deanna Alexis; Cogne, Benjamin; Dunnington, Leslie; Farach, Laura S.; Genetti, Casie A.; Isidor, Bertrand; Januel, Louis; Joshi, Aakash; Lahiri, Nayana; Lee, Kristen N.; Maya, Idit; McEntagart, Meriel; Northrup, Hope; Pujalte, Mathilde; Richardson, Kate; Walker, Susan; Koeleman, Bobby P. C.; Alders, Marielle; van Jaarsveld, Richard H.; Oegema, Renske
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
GENETICS IN MEDICINE
IF6.2
2023-01-0111
OAAI
van Jaarsveld, Richard H.; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A.; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C.; Ciolfi, Andrea; van Essen, Ton A. J.; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M.; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A.; Lewis, M. E. Suzanne; Lichty, Angie; Mannens, Marcel M. A. M.; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A.; Yosovich, Keren; Yuskaitis, Christopher J.; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Marielle; Oegema, Renske
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center
GENETICS IN MEDICINE
IF6.2
2020-10-015
OAAI
Michaelson-Cohen, Rachel; Salzer-Sheelo, Liat; Sukenik-Halevy, Rivka; Koifman, Arie; Fellner, Avi; Reches, Adi; Marom, Daphna; Behar, Doron M.; Sofrin-Drucker, Efrat; Zaks-Hoffer, Gal; Weiss-Hubshmann, Monika; Oresntein, Naama; Kropach-Gilad, Nesia; Rhurman-Shahar, Noa; Averbuch, Noa Shefer; Magal, Nurit; Bazak, Lily; Josefberg, Sagi; Matar, Reut; Goldberg, Yael; Shohat, Mordechai; Basel-Salmon, Lina; Maya, Idit

研究方向

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L
Lena Sagi‐Dain
H 指数:25论文数:175被引数:2,232
L
Lina Basel‐Salmon
H 指数:15论文数:64被引数:1,405
L
Lina Basel‐Vanagaite
H 指数:49论文数:170被引数:8,162
H 指数:0论文数:39被引数:407
A
Amihood Singer
H 指数:19论文数:100被引数:1,751
H 指数:0论文数:43被引数:239
T
Tamar Tenne
H 指数:13论文数:39被引数:1,398
R
Rivka Sukenik‐Halevy
H 指数:21论文数:96被引数:1,347
S
Shay Ben‐Shachar
H 指数:24论文数:173被引数:3,348
M
Mordechai Shohat
H 指数:33论文数:149被引数:5,058