نتائج البحث - "Roselló Mónica"

المصدر: Loong , L , Tardivo , A , Knaus , A , Hashim , M , Pagnamenta , A T , Alt , K , Böhrer-Rabel , H , Caro-Llopis , A , Cole , T , Distelmaier , F , Edery , P , Ferreira , C R , Jezela-Stanek , A , Kerr , B , Kluger , G , Krawitz , P M , Kuhn , M , Lemke , J R , Lesca , G , Lynch , S A , Martinez , F , Maxton , C , Mierzewska , H , Monfort , ....

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/0865c15c-1733-4b9c-81a1-56294ecd0a71Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.007Test
https://cris.maastrichtuniversity.nl/en/publications/0865c15c-1733-4b9c-81a1-56294ecd0a71Test

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4

دورية أكاديمية

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel

المؤلفون: Gabaldon-Albero, Alba, Cordon, Lourdes, Sempere, Amparo, Pedrola, Laia, Martin-Grau, Carla, Oltra, Silvestre, Monfort, Sandra, Caro-Llopis, Alfonso, Dominguez-Martinez, Marta, Hernandez-Muela, Sara, Rosello, Monica, Orellana, Carmen, Martinez, Francisco

المصدر: Genes (Basel) ; ISSN:2073-4425 ; Volume:15 ; Issue:6

مصطلحات موضوعية: X-linked, drug resistant epilepsy, epileptic encephalopathy, flow cytometry, phosphatidylinositol glycan-class A protein

العلاقة: https://doi.org/10.3390/genes15060802Test; https://pubmed.ncbi.nlm.nih.gov/38927738Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203057Test/

الإتاحة: https://doi.org/10.3390/genes15060802Test
https://pubmed.ncbi.nlm.nih.gov/38927738Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203057Test/

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5

دورية أكاديمية

PIGN encephalopathy : characterizing the epileptology

المؤلفون: Bayat, Allan, Valles‐Ibáñez, Guillem, Pendziwiat, Manuela, Knaus, Alexej, Alt, Kerstin, Biamino, Elisa, Bley, Annette, Calvert, Sophie, Carney, Patrick, Caro‐Llopis, Alfonso, Ceulemans, Berten, Cousin, Janice, Davis, Suzanne, Portes, Vincent, Edery, Patrick, England, Eleina, Ferreira, Carlos, Freeman, Jeremy, Gener, Blanca, Gorce, Magali, Heron, Delphine, Hildebrand, Michael S., Jezela‐Stanek, Aleksandra, Jouk, Pierre‐Simon, Keren, Boris, Kloth, Katja, Kuhn, Marius, Lemke, Johannes R., Li, Hong, Martinez, Francisco, Maxton, Caroline, Mefford, Heather C., Merla, Giuseppe, Mierzewska, Hanna, Muir, Alison, Monfort, Sandra, Nicolai, Joost, Norman, Jennifer, O'Grady, Gina, Oleksy, Barbara, Orellana, Carmen, Orec, Laura Elena, Peinhardt, Charlotte, Pronicka, Ewa, Rosello, Monica, Santos‐Simarro, Fernando, Schwaibold, Eva Maria Christina, Stegmann, Alexander P.A., Stumpel, Constance T., Szczepanik, Elzbieta, Terczyńska, Iwona, Thevenon, Julien, Tzschach, Andreas, Van Bogaert, Patrick, Vittorini, Roberta, Walsh, Sonja, Weckhuysen, Sarah, Weissman, Barbara, Wolfe, Lynne, Reymond, Alexandre, De Nittis, Pasquelena, Poduri, Annapurna, Olson, Heather, Striano, Pasquale, Lesca, Gaetan, Scheffer, Ingrid E., Møller, Rikke S., Sadleir, Lynette G.

المصدر: 0013-9580 ; Epilepsia

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000757417200001

الإتاحة: https://doi.org/10.1111/EPI.17173Test
https://hdl.handle.net/10067/1861900151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:10884Test

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6

دورية أكاديمية

PIGN encephalopathy:Characterizing the epileptology

المؤلفون: Bayat, Allan, de Valles-Ibáñez, Guillem, Pendziwiat, Manuela, Knaus, Alexej, Alt, Kerstin, Biamino, Elisa, Bley, Annette, Calvert, Sophie, Carney, Patrick, Caro-Llopis, Alfonso, Ceulemans, Berten, Cousin, Janice, Davis, Suzanne, des Portes, Vincent, Edery, Patrick, England, Eleina, Ferreira, Carlos, Freeman, Jeremy, Gener, Blanca, Gorce, Magali, Heron, Delphine, Hildebrand, Michael S., Jezela-Stanek, Aleksandra, Jouk, Pierre Simon, Keren, Boris, Kloth, Katja, Kluger, Gerhard, Kuhn, Marius, Lemke, Johannes R., Li, Hong, Martinez, Francisco, Maxton, Caroline, Mefford, Heather C., Merla, Giuseppe, Mierzewska, Hanna, Muir, Alison, Monfort, Sandra, Nicolai, Joost, Norman, Jennifer, O'Grady, Gina, Oleksy, Barbara, Orellana, Carmen, Orec, Laura Elena, Peinhardt, Charlotte, Pronicka, Ewa, Rosello, Monica, Santos-Simarro, Fernando, Schwaibold, Eva Maria Christina, Stegmann, Alexander P.A., Stumpel, Constance T, Szczepanik, Elzbieta, Terczyńska, Iwona, Thevenon, Julien, Tzschach, Andreas, Van Bogaert, Patrick, Vittorini, Roberta, Walsh, Sonja, Weckhuysen, Sarah, Weissman, Barbara, Wolfe, Lynne, Reymond, Alexandre, De Nittis, Pasquelena, Poduri, Annapurna, Olson, Heather, Striano, Pasquale, Lesca, Gaetan, Scheffer, Ingrid E., Møller, Rikke S., Sadleir, Lynette G.

المصدر: Bayat , A , de Valles-Ibáñez , G , Pendziwiat , M , Knaus , A , Alt , K , Biamino , E , Bley , A , Calvert , S , Carney , P , Caro-Llopis , A , Ceulemans , B , Cousin , J , Davis , S , des Portes , V , Edery , P , England , E , Ferreira , C , Freeman , J , Gener , B , Gorce , M , Heron , D , Hildebrand , M S , Jezela-Stanek , A , Jouk , P S ....

مصطلحات موضوعية: congenital disorder of glycosylation, developmental and epileptic encephalopathy, epilepsy, GPI-anchoring disorder, intellectual disability, Seizures/genetics, Humans, Epilepsy/diagnostic imaging, Electroencephalography, Intellectual Disability/diagnostic imaging, Drug Resistant Epilepsy, Phenotype, Female

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/b3915670-983a-4fd9-bd6f-e583b8ae2f43Test

الإتاحة: https://doi.org/10.1111/epi.17173Test
https://portal.findresearcher.sdu.dk/da/publications/b3915670-983a-4fd9-bd6f-e583b8ae2f43Test
https://findresearcher.sdu.dk/ws/files/203032570/epi.17173.pdfTest

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7

دورية أكاديمية

Outcome of 185 pregnancies studied by prenatal genomic array technique: Bioethical reflections

المؤلفون: Roselló, Mónica, Lluna González, Javier María, Aznar Lucea, Justo

مصطلحات موضوعية: Genomic arrays, Reproductive decisions, Prenatal diagnosis, 7103.04 Ética de la Ciencia, 32 Ciencias Médicas

العلاقة: http://hdl.handle.net/20.500.12466/3709Test; https://doi.org/10.1177/1477750921106184Test

الإتاحة: https://doi.org/20.500.12466/3709Test
https://doi.org/10.1177/1477750921106184Test
https://hdl.handle.net/20.500.12466/3709Test

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8

دورية أكاديمية

Prevalence of pathogenic copy number variants among children conceived by donor oocyte

المؤلفون: Monfort, Sandra, Orellana, Carmen, Oltra, Silvestre, Rosello, Mónica, Caro-Llopis, Alfonso, Martinez, Francisco

المساهمون: Fundacion Mutua Madrileña

المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-021-86242-xTest
https://www.nature.com/articles/s41598-021-86242-x.pdfTest
https://www.nature.com/articles/s41598-021-86242-xTest

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9

دورية أكاديمية

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

المؤلفون: Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand

المساهمون: National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 108, issue 5, page 929-941 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.03.017Test
https://api.elsevier.com/content/article/PII:S0002929721001014?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929721001014?httpAccept=text/plainTest

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10

دورية أكاديمية

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)

المؤلفون: van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, de Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, H. lya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.

المصدر: van der Sluijs , P J , Jansen , S , Vergano , S A , Adachi-Fukuda , M , Alanay , Y , AlKindy , A , Baban , A , Bayat , A , Beck-Wödl , S , Berry , K , Bijlsma , E K , Bok , L A , Brouwer , A F J , van der Burgt , I , Campeau , P M , Canham , N , Chrzanowska , K , Chu , Y W Y , Chung , B H Y , Dahan , K , de Rademaeker , M ....

العلاقة: https://research.vumc.nl/en/publications/3464a7d7-8407-4e20-9531-0a0ee220fbbdTest

الإتاحة: https://doi.org/10.1038/s41436-018-0368-yTest
https://doi.org/10.1038/s41436-018-0330-zTest
https://research.vumc.nl/en/publications/3464a7d7-8407-4e20-9531-0a0ee220fbbdTest
http://www.scopus.com/inward/record.url?scp=85060910177&partnerID=8YFLogxKTest

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