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Search Results - Salsench, Eva Medico
Search Results - Salsench, Eva Medico
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Spliceosome Mutations in Uveal Melanoma
by
Nguyen, Josephine Q N
,
Drabarek, Wojtek
,
Yavuzyigitoglu, Serdar
,
Medico Salsench, Eva
,
Verdijk, Robert M
,
Naus, Nicole C
,
de Klein, Annelies
,
Kiliç, Emine
,
Brosens, Erwin
Published in
International journal of molecular sciences
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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
by
AlMuhaizea, Mohammed
,
AlMass, Rawan
,
AlHargan, Aljouhra
,
AlBader, Anoud
,
Medico Salsench, Eva
,
Howaidi, Jude
,
Ihinger, Jacie
,
Karachunski, Peter
,
Begtrup, Amber
,
Segura Castell, Monica
,
Bauer, Peter
,
Bertoli-Avella, Aida
,
Kaya, Ibrahim H.
,
AlSufayan, Jumanah
,
AlQuait, Laila
,
Chedrawi, Aziza
,
Arold, Stefan T.
,
Colak, Dilek
,
Barakat, Tahsin Stefan
,
Kaya, Namik
Published in
Acta neuropathologica
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Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance
by
Yousefi, Soheil
,
Deng, Ruizhi
,
Lanko, Kristina
,
Salsench, Eva Medico
,
Nikoncuk, Anita
,
van der Linde, Herma C
,
Perenthaler, Elena
,
van Ham, Tjakko J
,
Mulugeta, Eskeatnaf
,
Barakat, Tahsin Stefan
Published in
Genome medicine
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Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
by
Medico Salsench, Eva
,
Maroofian, Reza
,
Deng, Ruizhi
,
Lanko, Kristina
,
Nikoncuk, Anita
,
Pérez, Belén
,
Sánchez-Lijarcio, Obdulia
,
Ibáñez-Mico, Salvador
,
Wojcik, Antonina
,
Vargas, Marcelo
,
Abbas Al-Sannaa, Nouriya
,
Girgis, Marian Y
,
Silveira, Tainá Regina Damaceno
,
Bauer, Peter
,
Schroeder, Audrey
,
Fong, Chin-To
,
Begtrup, Amber
,
Babaei, Meisam
,
Toosi, Mehran Beiraghi
,
Ashrafzadeh, Farah
,
Imannezhad, Shima
,
Doosti, Mohammad
,
Ahangari, Najmeh
,
Najarzadeh Torbati, Paria
,
Ghayoor Karimiani, Ehsan
,
Murphy, David
,
Cali, Elisa
,
Kaya, Ibrahim H
,
AlMuhaizea, Mohammad
,
Colak, Dilek
,
Cardona-Londoño, Kelly J
,
Arold, Stefan T
,
Houlden, Henry
,
Bertoli-Avella, Aida
,
Kaya, Namik
,
Barakat, Tahsin Stefan
Published in
Brain (London, England : 1878)
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Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma
by
Drabarek, Wojtek
,
van Riet, Job
,
Nguyen, Josephine Q N
,
Smit, Kyra N
,
van Poppelen, Natasha M
,
Jansen, Rick
,
Medico-Salsench, Eva
,
Vaarwater, Jolanda
,
Magielsen, Frank J
,
Brands, Tom
,
Eussen, Bert
,
Bosch, Thierry P P van den
,
Verdijk, Robert M
,
Naus, Nicole C
,
Paridaens, Dion
,
de Klein, Annelies
,
Brosens, Erwin
,
van de Werken, Harmen J G
,
Kilic, Emine
,
On Behalf Of The Rotterdam Ocular Melanoma Study Group
Published in
Cancers
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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
by
Deng, Ruizhi
,
Medico-Salsench, Eva
,
Nikoncuk, Anita
,
Ramakrishnan, Reshmi
,
Lanko, Kristina
,
Kühn, Nikolas A.
,
van der Linde, Herma C.
,
Lor-Zade, Sarah
,
Albuainain, Fatimah
,
Shi, Yuwei
,
Yousefi, Soheil
,
Capo, Ivan
,
van den Herik, Evita Medici
,
van Slegtenhorst, Marjon
,
van Minkelen, Rick
,
Geeven, Geert
,
Mulder, Monique T.
,
Ruijter, George J. G.
,
Lütjohann, Dieter
,
Jacobs, Edwin H.
,
Houlden, Henry
,
Pagnamenta, Alistair T.
,
Metcalfe, Kay
,
Jackson, Adam
,
Banka, Siddharth
,
De Simone, Lenika
,
Schwaede, Abigail
,
Kuntz, Nancy
,
Palculict, Timothy Blake
,
Abbas, Safdar
,
Umair, Muhammad
,
AlMuhaizea, Mohammed
,
Colak, Dilek
,
AlQudairy, Hanan
,
Alsagob, Maysoon
,
Pereira, Catarina
,
Trunzo, Roberta
,
Karageorgou, Vasiliki
,
Bertoli-Avella, Aida M.
,
Bauer, Peter
,
Bouman, Arjan
,
Hoefsloot, Lies H.
,
van Ham, Tjakko J.
,
Issa, Mahmoud
,
Zaki, Maha S.
,
Gleeson, Joseph G.
,
Willemsen, Rob
,
Kaya, Namik
,
Arold, Stefan T.
,
Maroofian, Reza
,
Sanderson, Leslie E.
,
Barakat, Tahsin Stefan
Published in
Acta neuropathologica
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