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M

Maaike Vreeburg

Maastricht University
H指数:26
被引数:2,568

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Exploring shared clinical features and successful therapeutic interventions in CARD14-associated papulosquamous eruption
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
IF8
2024-11-200
OA
Rossel, S. Vanya J.; Reich, Adam; Baniel, Avital; Wertheim-Tysarowska, Katarzyna; Frommherz, Leonie H.; Nolberczak, Daniel; Lesiak, Aleksandra; Kwiek, Bartlomiej; Osipowicz, Katarzyna; Bekkenk, Marcel W.; Spruijt, Liesbeth; Seyger, Marieke M. B.; Kolt-Kaminska, Marta; Giehl, Kathrin; Nartbutt, Joanna; Vreeburg, Maaike; Steijlen, Peter M.; Sprecher, Eli; van Geel, Michel; Gostynski, Antoni H.
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

全面的EHMT1变异分析拓宽了Kleefstra综合征的基因型-表型关联和分子机制

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-08-018
PRE
Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

快速外显子组测序作为疑似遗传病新生儿的一级检测: 荷兰一项前瞻性多中心临床效用研究的结果

EUROPEAN JOURNAL OF PEDIATRICS
IF2.6
2023-03-3110
OAAI
Olde Keizer, Richelle A. C. M.; Marouane, Abderrahim; Kerstjens-Frederikse, Wilhelmina; Deden, A. Chantal; Lichtenbelt, Klaske; Jonckers, Tinneke; Vervoorn, Marieke; Vreeburg, Maaike; Henneman, Lidewij; de Vries, Linda; Sinke, Richard; Pfundt, Rolph; Stevens, Servi J. C.; Andriessen, Peter; van Lingen, Richard; Nelen, Marcel; Scheffer, Hans; Stemkens, Daphne; Oosterwijk, Cor; van Amstel, Hans Kristian Ploos; de Boode, Willem; van Zelst-Stams, Wendy A. G.; Frederix, Geert W. J.; Vissers, Lisenka E. L. M.
Monoallelic CRMP1 gene variants cause neurodevelopmental disorder

单等位基因CRMP1基因变异导致神经发育障碍

ELIFE
IF0
2022-12-136
OAAI
Ravindran, Ethiraj; Arashiki, Nobuto; Becker, Lena-Luise; Takizawa, Kohtaro; Levy, Jonathan; Rambaud, Thomas; Makridis, Konstantin L.; Goshima, Yoshio; Li, Na; Vreeburg, Maaike; Demeer, Benedicte; Dickmanns, Achim; Stegmann, Alexander P. A.; Hu, Hao; Nakamura, Fumio; Kaindl, Angela M.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-07-0134
OAAI
Vissers, Lisenka E. L. M.; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L.; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E., V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J.; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G.; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; de Villemeur, Thierry Billette; Nugent, Kimberly; Raymond, F. Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika; Schwab, Jennifer; Keren, Boris; Charles, Perrine; Vreeburg, Maaike; De Simone, Lenika; Hoganson, George; Iascone, Maria; Milani, Donatella; Evenepoel, Lucie; Revencu, Nicole; Ward, D. Isum; Burns, Kaitlyn; Krantz, Ian; Raible, Sarah E.; Murrell, Jill R.; Wood, Kathleen; Cho, Megan T.; van Bokhoven, Hans; Muenke, Maximilian; Kleefstra, Tjitske; Bodmer, Rolf; de Brouwer, Arjan P. M.
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-01-0161
OAAI
Straub, Jonas; Konrad, Enrico D. H.; Gruener, Johanna; Toutain, Annick; Bok, Levinus A.; Cho, Megan T.; Crawford, Heather P.; Dubbs, Holly; Douglas, Ganka; Jobling, Rebekah; Johnson, Diana; Krock, Bryan; Mikati, Mohamad A.; Nesbitt, Addie; Nicolai, Joost; Phillips, Meredith; Poduri, Annapurna; Ortiz-Gonzalez, Xilma R.; Powis, Zoe; Santani, Avni; Smith, Lacey; Stegmann, Alexander P. A.; Stumpel, Constance; Vreeburg, Maaike; Fliedner, Anna; Gregor, Anne; Sticht, Heinrich; Zweier, Christiane

研究方向

暂未获取到该数据
M
Michel van Geel
H 指数:33论文数:178被引数:4,735
M
Maurice A. M. Van Steensel
H 指数:55论文数:652被引数:1.1万
P
Peter M. Steijlen
H 指数:51论文数:208被引数:9,506
A
Antoni Gostyński
H 指数:15论文数:66被引数:808
R
Rolph Pfundt
H 指数:79论文数:378被引数:2.0万
A
Alexander P.A. Stegmann
H 指数:46论文数:153被引数:7,061
H
Han G. Brunner
H 指数:103论文数:499被引数:5.0万
T
Tjitske Kleefstra
H 指数:73论文数:364被引数:1.9万
L
Lisenka E.L.M. Vissers
H 指数:75论文数:288被引数:2.4万
J
J. M. K. Clabbers
H 指数:4论文数:12被引数:129