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1Academic Journal
المؤلفون: Liepina, Lelde, Smith, Desiree E.C., Huidekoper, Hidde, Zeidler, Shimriet, Wamelink, Mirjam, de Wit, Marie Claire, Wilke, Martina, Ruijter, George, Bierau, Jörgen, Blom, Henk J.
المصدر: Liepina , L , Smith , D E C , Huidekoper , H , Zeidler , S , Wamelink , M , de Wit , M C , Wilke , M , Ruijter , G , Bierau , J & Blom , H J 2024 , ' 5,10-methenyltetrahydrofolate synthetase deficiency : An extreme rare defect of folate metabolism in two Dutch siblings ' , JIMD Reports , vol. 65 , no. 2 , pp. 49-55 . https://doi.org/10.1002/jmd2.12409
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
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2
المؤلفون: Kok, Gautam, Tseng, Laura, Schene, Imre F., Dijsselhof, Monique E., Salomons, Gajja, Mendes, Marisa I., Smith, Desiree E.C., Wiedemann, Arnaud, Canton, Marie, Feillet, François, de Koning, Tom J., Boothe, Megan, Dean, Joy, Kassel, Rachel, Ferreira, Elise A., van den Born, Margreet, Nieuwenhuis, Edward E.S., Rehmann, Holger, Terheggen-Lagro, Suzanne W.J., van Karnebeek, Clara D.M., Fuchs, Sabine A.
المصدر: Genetics in Medicine. 23(11):2202-2207
مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Mikrobiologi inom det medicinska området, Medical and Health Sciences, Basic Medicine, Microbiology in the medical area
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3Academic Journal
المؤلفون: Kuijpers, Taco W., de Vries, Andrica C.H., van Leeuwen, Ester M., Ermens, A. A.M., de Pont, Saskia, Smith, Desirée E.C., Wamelink, Mirjam M.C., Mensenkamp, Arjen R., Nelen, Marcel R., Allen, Hana Lango, Pals, Steven T., Beverloo, Berna H.B., Huidekoper, Hidde H., Wagner, Anja
المصدر: Kuijpers , T W , de Vries , A C H , NIHR BioResource Study Group , van Leeuwen , E M , Ermens , A A M , de Pont , S , Smith , D E C , Wamelink , M M C , Mensenkamp , A R , Nelen , M R , Allen , H L , Pals , S T , Beverloo , B H B , Huidekoper , H H & Wagner , A 2022 , ' Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene ....
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/f120c3ba-bc71-497d-a852-61d7db518a2c
https://doi.org/10.1182/bloodadvances.2022007233
https://pure.eur.nl/ws/files/74565814/Megalobastic_anemia_infantile_leukemia_and_immunodeficiency_caused_by_a_novel_homozygous_mutation_in_the_DHFR_gene.pdf
http://www.scopus.com/inward/record.url?scp=85143166064&partnerID=8YFLogxK -
4Academic Journal
المؤلفون: den Bakker, Emil, Smith, Desiree E.C., Finken, Martijn J.J., Wamelink, Mirjam M.C., Salomons, Gajja S., van de Kamp, Jiddeke M., Bökenkamp, Arend
المصدر: Essays in Biochemistry ; ISSN 0071-1365 1744-1358
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5Academic Journal
المؤلفون: Botta, Elena, Theil, Arjan F., Raams, Anja, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Accadia, Maria, Lombardi, Anita, Smith, Desiree E.C., Mendes, Marisa I., Swagemakers, Sigrid M.A., Van Der Spek, Peter J., Salomons, Gajja S., Hoeijmakers, Jan H.J., Yesodharan, Dhanya, Nampoothiri, Sheela, Ogi, Tomoo, Lehmann, Alan R., Orioli, Donata, Vermeulen, Wim
المصدر: Botta , E , Theil , A F , Raams , A , Caligiuri , G , Giachetti , S , Bione , S , Accadia , M , Lombardi , A , Smith , D E C , Mendes , M I , Swagemakers , S M A , Van Der Spek , P J , Salomons , G S , Hoeijmakers , J H J , Yesodharan , D , Nampoothiri , S , Ogi , T , Lehmann , A R , Orioli , D & Vermeulen , W 2021 , ' Protein instability associated with ....
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/196b9541-3594-4a59-abeb-304e290eba0b
https://doi.org/10.1093/hmg/ddab123
https://pure.eur.nl/ws/files/42750805/Protein_instability_associated_with_AARS1_and_MARS1_mutations_causes_trichothiodystrophy.pdf
http://www.scopus.com/inward/record.url?scp=85115957950&partnerID=8YFLogxK -
6Academic Journal
المؤلفون: Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E.C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, Husain, Ralf A.
المساهمون: National Health and Medical Research Council, Ministero della Salute, Deutsche Forschungsgemeinschaft
المصدر: Genetics in Medicine ; volume 23, issue 12, page 2352-2359 ; ISSN 1098-3600
الاتاحة: http://dx.doi.org/10.1038/s41436-021-01286-8
https://www.nature.com/articles/s41436-021-01286-8.pdf
https://www.nature.com/articles/s41436-021-01286-8
https://api.elsevier.com/content/article/PII:S109836002105440X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002105440X?httpAccept=text/plain -
7Academic Journal
المؤلفون: Manole, Andreea, Efthymiou, Stephanie, O'Connor, Emer, Mendes, Marisa I., Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, Aslanger, Ayca Dilruba, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Christensen, Katherine M., Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Si, Yue, Telegrafi, Aida, Andrews, Marisa V., Baldridge, Dustin, Gabriel, Heinz, Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frédéric, van Ravenwaaij, Conny, Fock, Annemarie J.M., Stevens, Servi J.C., Bähler, Jürg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desirée E.C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshøj, Tina Duelund, Karstensen, Helena Gásdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean Louis, Koolen, David A., Houlden, Henry
المصدر: Manole , A , Efthymiou , S , O'Connor , E , Mendes , M I , Jennings , M , Maroofian , R , Davagnanam , I , Mankad , K , Lopez , M R , Salpietro , V , Harripaul , R , Badalato , L , Walia , J , Francklyn , C S , Athanasiou-Fragkouli , A , Sullivan , R , Desai , S , Baranano , K , Zafar , F , Rana , N , Ilyas , M , Horga , A , Kara , M , Mattioli , F , ....
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8Academic JournalLoss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
المؤلفون: Wang, Lu, Li, Zhen, Sievert, David, Smith, Desirée E.C., Mendes, Marisa I., Chen, Dillon Y., Stanley, Valentina, Ghosh, Shereen, Wang, Yulu, Kara, Majdi, Aslanger, Ayca Dilruba, Rosti, Rasim O., Houlden, Henry, Salomons, Gajja S., Gleeson, Joseph G.
المصدر: Wang , L , Li , Z , Sievert , D , Smith , D E C , Mendes , M I , Chen , D Y , Stanley , V , Ghosh , S , Wang , Y , Kara , M , Aslanger , A D , Rosti , R O , Houlden , H , Salomons , G S & Gleeson , J G 2020 , ' Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly ' , Nature Communications , vol. 11 , no. 1 , 4038 . https://doi.org/10.1038/s41467-020-17454-4
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9Academic Journal
المؤلفون: Lenz, Dominic, Stahl, Mirjam, Seidl, Elias, Schöndorf, Dominik, Brennenstuhl, Heiko, Gesenhues, Florian, Heinzmann, Tina, Longerich, Thomas, Mendes, Marisa I., Prokisch, Holger, Salomons, Gajja S., Schön, Carola, Smith, Desirée E.C., Sommerburg, Olaf, Wagner, Matias, Westhoff, Jens H., Reiter, Karl, Staufner, Christian, Griese, Matthias
المصدر: Lenz , D , Stahl , M , Seidl , E , Schöndorf , D , Brennenstuhl , H , Gesenhues , F , Heinzmann , T , Longerich , T , Mendes , M I , Prokisch , H , Salomons , G S , Schön , C , Smith , D E C , Sommerburg , O , Wagner , M , Westhoff , J H , Reiter , K , Staufner , C & Griese , M 2020 , ' Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants ' , Pediatric ....
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10Academic Journal
المؤلفون: Pop, Ana, Smith, Desirée E.C., Kirby, Trevor, Walters, Dana, Gibson, K. Michael, Mahmoudi, Soufiane, van Dooren, Silvy J.M., Kanhai, Warsha A., Fernandez-Ojeda, Matilde R., Wever, Eric J.M., Koster, Janet, Waterham, Hans R., Grob, Bram, Roos, Birthe, Wamelink, Mirjam M.C., Chen, Justin, Natesan, Senthil, Salomons, Gajja S.
المصدر: Pop , A , Smith , D E C , Kirby , T , Walters , D , Gibson , K M , Mahmoudi , S , van Dooren , S J M , Kanhai , W A , Fernandez-Ojeda , M R , Wever , E J M , Koster , J , Waterham , H R , Grob , B , Roos , B , Wamelink , M M C , Chen , J , Natesan , S & Salomons , G S 2020 , ' Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene ....
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11Academic Journal
المؤلفون: Marten, Lara M., Brinkert, Florian, Smith, Desirée E.C., Prokisch, Holger, Hempel, Maja, Santer, René
المساهمون: Bundesministerium für Bildung und Forschung
المصدر: Molecular Genetics and Metabolism Reports ; volume 25, page 100681 ; ISSN 2214-4269
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12Academic Journal
المؤلفون: Lenz, Dominic, Smith, Desirée E.C., Crushell, Ellen, Husain, Ralf A., Salomons, Gajja S., Alhaddad, Bader, Bernstein, Jonathan A., Bianzano, Alyssa, Biskup, Saskia, Brennenstuhl, Heiko, Caldari, Dominique, Dikow, Nicola, Haack, Tobias B., Hanson-Kahn, Andrea, Harting, Inga, Horn, Denise, Hughes, Joanne, Huijberts, Maya, Isidor, Bertrand, Kathemann, Simone, Kopajtich, Robert, Kotzaeridou, Urania, Küry, Sébastien, Lainka, Elke, Laugwitz, Lucia, Lupski, James R., Posey, Jennifer E., Reynolds, Claire, Rosenfeld, Jill A., Schröter, Julian, Vansenne, Fleur, Wagner, Matias, Weiß, Claudia, Wolffenbuttel, Bruce H.R., Wortmann, Saskia B., Kölker, Stefan, Hoffmann, Georg F., Prokisch, Holger, Mendes, Marisa I., Staufner, Christian
المساهمون: Leberstiftung, Dietmar Hopp Stiftung, Bundesministerium für Bildung und Forschung
المصدر: Genetics in Medicine ; volume 22, issue 11, page 1863-1873 ; ISSN 1098-3600
الاتاحة: http://dx.doi.org/10.1038/s41436-020-0904-4
http://www.nature.com/articles/s41436-020-0904-4.pdf
http://www.nature.com/articles/s41436-020-0904-4
https://api.elsevier.com/content/article/PII:S1098360021007887?httpAccept=text/xml
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13Academic Journal
المؤلفون: van Der Knaap, Marjo, S., Bugiani, Marianna, Mendes, Marisa, Riley, Lisa, Smith, Desiree E.C., Rudinger-Thirion, Joëlle, Frugier, Magali, Breur, Marjolein, Crawford, Joanna, van Gaalen, Judith, Schouten, Meyke, Willems, Marjolaine, Waisfisz, Quinten, Mau-Them, Frédéric Tran, Rodenburg, Richard, Taft, Ryan, Keren, Boris, Christodoulou, John, Depienne, Christel, Simons, Cas, Salomons, Gajja, Mochel, Fanny
المساهمون: Vrije Universiteit Amsterdam Amsterdam (VU), VU University Medical Center Amsterdam, Architecture et réactivité de l'ARN (ARN), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Département de génétique médicale, maladies rares et médecine personnalisée CHRU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Department of Clinical Genetics, Service de Biopathologie CHRU Montpellier, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Duisbourg-Essen
المصدر: ISSN: 0028-3878.
مصطلحات موضوعية: [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Relation: hal-02294914; https://hal.science/hal-02294914; https://hal.science/hal-02294914/document; https://hal.science/hal-02294914/file/Rudinger-Bi-allelic%20variantsin%20LARS2and%20KARScause%20deafness%20and%20%28ovario%29leukodystrophy.pdf
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14Academic Journal
المؤلفون: Theil, Arjan F., Botta, Elena, Raams, Anja, Smith, Desiree E.C., Mendes, Marisa I., Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Carriero, Roberta, Liberi, Giordano, Zardoni, Luca, Swagemakers, Sigrid M.A., Salomons, Gajja S., Sarasin, Alain, Lehmann, Alan, van der Spek, Peter J., Ogi, Tomoo, Hoeijmakers, Jan H.J., Vermeulen, Wim, Orioli, Donata
المساهمون: Associazione Italiana Ricerca sul Cancro, Telethon Foundation, Dutch Science Organization, NWO, ZonMW, European Research Council, ERC, H2020
المصدر: The American Journal of Human Genetics ; volume 105, issue 2, page 434-440 ; ISSN 0002-9297
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15Academic Journal
المؤلفون: Kuo, Molly E., Theil, Arjan F., Kievit, Anneke, Malicdan, May Christine, Introne, Wendy J., Christian, Thomas, Verheijen, Frans W., Smith, Desiree E.C., Mendes, Marisa I., Hussaarts-Odijk, Lidia, van der Meijden, Eric, van Slegtenhorst, Marjon, Wilke, Martina, Vermeulen, Wim, Raams, Anja, Groden, Catherine, Shimada, Shino, Meyer-Schuman, Rebecca, Hou, Ya Ming, Gahl, William A., Antonellis, Anthony, Salomons, Gajja S., Mancini, Grazia M.S.
المساهمون: NIH Medical Scientist Training Program Training Grant, NIH Cellular and Molecular Biology Training Grant, European Research Council Advanced Grant, European Leukodystrophies Association, NIH F31 NRSA, Michigan Pre-Doctoral Training in Genetics Program, NHGRI Intramural Research Program of the National Institutes of Health, Common Fund from the NIH Office of the Director, National Institute of General Medical Sciences, Erasmus MC Mrace, ZonMW Top
المصدر: The American Journal of Human Genetics ; volume 104, issue 3, page 520-529 ; ISSN 0002-9297
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16Academic Journal
المؤلفون: Mendes, Marisa I., Gutierrez Salazar, Mariana, Guerrero, Kether, Thiffault, Isabelle, Salomons, Gajja S., Gauquelin, Laurence, Tran, Luan T., Forget, Diane, Gauthier, Marie-Soleil, Waisfisz, Quinten, Smith, Desiree E.C., Simons, Cas, van der Knaap, Marjo S., Marquardt, Iris, Lemes, Aida, Mierzewska, Hanna, Weschke, Bernhard, Koehler, Wolfgang, Coulombe, Benoit, Wolf, Nicole I., Bernard, Geneviève
المساهمون: Canadian Institutes of Health Research, Fondation du Grand Défi Pierre Lavoie, Fondation les Amis d’Eliott, Fondation Lueur d’Espoir pour Ayden, Réseau de Médecine Génétique Appliquée, ZonMw TOP, Compute Canada, Fonds de Recherche du Québec en Santé
المصدر: The American Journal of Human Genetics ; volume 102, issue 4, page 676-684 ; ISSN 0002-9297
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17Academic Journal
المؤلفون: Mendes, Marisa I.S., Smith, Desirée E.C., Vicente, João B., Tavares De Almeida, Isabel, Ben-Omran, Tawfeg, Salomons, Gajja S., Rivera, Isabel A., Leandro, Paula, Blom, Henk J.
المساهمون: Fundação para a Ciência e a Tecnologia, Portugal
المصدر: Human Molecular Genetics ; volume 24, issue 25, page 7339-7348 ; ISSN 0964-6906 1460-2083
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18Academic Journal
المؤلفون: Tabolacci, Elisabetta, Molinario, Clelia, Marangi, Giuseppe, Nobile, Veronica, Arena, Vincenzo, Mendes, Marisa I., Smith, Desiree E.C., Salomons, Gajja S., Tana, Milena, Costa, Simonetta, Vento, Giovanni, Genuardi, Maurizio
المصدر: Tabolacci , E , Molinario , C , Marangi , G , Nobile , V , Arena , V , Mendes , M I , Smith , D E C , Salomons , G S , Tana , M , Costa , S , Vento , G & Genuardi , M 2021 , ' Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene : Clinical, genetic, and functional characterization ' , Clinical Genetics , vol. 99 , no. 4 , pp. 601-603 . https://doi.org/10.1111/cge.13893
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19Electronic Resource
المؤلفون: Metabole ziekten onderzoek 2, Genetica Sectie Metabole Diagnostiek, MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, CMM Groep Bos, Metabole ziekten patientenzorg, Child Health, Kok, Gautam, Tseng, Laura, Schene, Imre F., Dijsselhof, Monique E., Salomons, Gajja, Mendes, Marisa I., Smith, Desiree E.C., Wiedemann, Arnaud, Canton, Marie, Feillet, François, de Koning, Tom J., Boothe, Megan, Dean, Joy, Kassel, Rachel, Ferreira, Elise A., van den Born, Margreet, Nieuwenhuis, Edward E.S., Rehmann, Holger, Terheggen-Lagro, Suzanne W.J., van Karnebeek, Clara D.M., Fuchs, Sabine A.
URL:
https://doi.org/10.1038/s41436-021-01249-z http://hdl.handle.net/1874/445175 http://www.scopus.com/inward/record.url?scp=85108909862&partnerID=8YFLogxK
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المؤلفون: Banka, Siddharth, Blom, Henk J., Walter, John, Aziz, Majid, Urquhart, Jill, Clouthier, Christopher M., Rice, Gillian I., de Brouwer, Arjan P.M., Hilton, Emma, Vassallo, Grace, Will, Andrew, Smith, Desirée E.C., Smulders, Yvo M., Wevers, Ron A., Steinfeld, Robert, Heales, Simon, Crow, Yanick J., Pelletier, Joelle N., Jones, Simon, Newman, William G.
المساهمون: Manchester Biomedical Research Centre, Natural Sciences and Engineering Research Council of Canada
المصدر: The American Journal of Human Genetics ; volume 88, issue 2, page 216-225 ; ISSN 0002-9297