نتائج البحث - "Nibbeling, Esther"

1

دورية أكاديمية

Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage

المؤلفون: Rutten, Julie W., Cerfontaine, Minne N., Dijkstra, Kyra L., Mulder, Aat A., Vreijling, Jeroen, Kruit, Mark, Koning, Roman I., de Bot, Susanne T., van Nieuwenhuizen, Koen M., Baelde, Hans J., Berendse, Henk W., Mei, Leon H., Ruijter, George J. G., Baas, Frank, Jost, Carolina R., van Duinen, Sjoerd G., Nibbeling, Esther A. R., Gravesteijn, Gido, Lesnik Oberstein, Saskia A. J.

المصدر: Rutten , J W , Cerfontaine , M N , Dijkstra , K L , Mulder , A A , Vreijling , J , Kruit , M , Koning , R I , de Bot , S T , van Nieuwenhuizen , K M , Baelde , H J , Berendse , H W , Mei , L H , Ruijter , G J G , Baas , F , Jost , C R , van Duinen , S G , Nibbeling , E A R , Gravesteijn , G & Lesnik Oberstein , S A J 2024 , ....

العلاقة: https://research.vumc.nl/en/publications/d0e9d86d-55a8-45a3-acc8-6cbe0c5e3423Test

الإتاحة: https://doi.org/10.1016/j.gim.2024.101105Test
https://research.vumc.nl/en/publications/d0e9d86d-55a8-45a3-acc8-6cbe0c5e3423Test
http://www.scopus.com/inward/record.url?scp=85188478868&partnerID=8YFLogxKTest

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2

دورية أكاديمية

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

المؤلفون: Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L E Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

المصدر: Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; . (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. (In Press). European journal of human genetics Springer Nature 10.1038/s41431-024-01610-1

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/196319Test/

الإتاحة: https://doi.org/10.1038/s41431-024-01610-1Test
https://boris.unibe.ch/196319/1/s41431-024-01610-1.pdfTest
https://boris.unibe.ch/196319Test/

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3

دورية أكاديمية

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

المؤلفون: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia AL, Nibbeling, Esther, Dingemans, Alexander JM, Douine, Emilie D, Nelson, Stanley F, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth

المصدر: Genetics in Medicine. 21(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Brain Disorders, Rare Diseases, Pediatric, Clinical Research, Digestive Diseases, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Developmental Disabilities, Exome, Female, Genetic Association Studies, Genotype, Histone Acetyltransferases, Humans, Infant, Intellectual Disability, Male, Microcephaly, Mutation, Phenotype, Protein Isoforms, Young Adult, genetic diagnosis, phenotypic spectrum, KAT6A syndrome, chromatin modifiers, intellectual disability, DDD Study, KAT6A syndrome, chromatin modifiers, intellectual disability, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/79s761gbTest

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4

دورية أكاديمية

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

المؤلفون: Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, de Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A. R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W. E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, Vasileiou, Georgia

المصدر: Bosch , E , Popp , B , Güse , E , Skinner , C , van der Sluijs , P J , Maystadt , I , Pinto , A M , Renieri , A , Bruno , L P , Granata , S , Marcelis , C , Baysal , Ö , Hartwich , D , Holthöfer , L , Isidor , B , Cogne , B , Wieczorek , D , Capra , V , Scala , M , de Marco , P , Ognibene , M , Jamra , R A , Platzer , K , ....

العلاقة: https://research.vumc.nl/en/publications/47b00604-c0fa-431e-b4dc-67690fdf85b9Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.100950Test
https://research.vumc.nl/en/publications/47b00604-c0fa-431e-b4dc-67690fdf85b9Test
http://www.scopus.com/inward/record.url?scp=85173555062&partnerID=8YFLogxKTest

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5

دورية أكاديمية

Models of KPTN -related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

المؤلفون: Levitin, Maria O., Rawlins, Lettie E., Sanchez-Andrade, Gabriela, Arshad, Osama A., Collins, Stephan C., Sawiak, Stephen J., Iffland, Phillip H., Andersson, Malin H.L., Bupp, Caleb, Cambridge, Emma L., Coomber, Eve L., Ellis, Ian, Herkert, Johanna C., Ironfield, Holly, Jory, Logan, Kretz, Perrine F., Kant, Sarina G., Neaverson, Alexandra, Nibbeling, Esther, Rowley, Christine, Relton, Emily, Sanderson, Mark, Scott, Ethan M., Stewart, Helen, Shuen, Andrew Y., Schreiber, John, Tuck, Liz, Tonks, James, Terkelsen, Thorkild, van Ravenswaaij-Arts, Conny, Vasudevan, Pradeep, Wenger, Olivia, Wright, Michael, Day, Andrew, Hunter, Adam, Patel, Minal, Lelliott, Christopher J., Crino, Peter B., Yalcin, Binnaz, Crosby, Andrew H., Baple, Emma L., Logan, Darren W., Hurles, Matthew E., Gerety, Sebastian S.

المصدر: Levitin , M O , Rawlins , L E , Sanchez-Andrade , G , Arshad , O A , Collins , S C , Sawiak , S J , Iffland , P H , Andersson , M H L , Bupp , C , Cambridge , E L , Coomber , E L , Ellis , I , Herkert , J C , Ironfield , H , Jory , L , Kretz , P F , Kant , S G , Neaverson , A , Nibbeling , E , Rowley , C , Relton , E , Sanderson , ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/f5a368fb-89ee-45a5-885b-184eae7e2e73Test

الإتاحة: https://doi.org/10.1093/brain/awad231Test
https://pure.eur.nl/en/publications/f5a368fb-89ee-45a5-885b-184eae7e2e73Test
https://pure.eur.nl/ws/files/119323951/awad231.pdfTest
http://www.scopus.com/inward/record.url?scp=85176495009&partnerID=8YFLogxKTest

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6

دورية أكاديمية

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

المؤلفون: van Slobbe, Michelle, van Haeringen, Arie, Vissers, Lisenka E. L. M., Bijlsma, Emilia K., Rutten, Julie W., Suerink, Manon, Nibbeling, Esther A. R., Ruivenkamp, Claudia A. L., Koene, Saskia

المصدر: European Journal of Pediatrics ; ISSN 1432-1076

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00431-023-05279-4Test

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7

دورية أكاديمية

Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study

المؤلفون: Atmar, Khaled, Ruivenkamp, Claudia A.L., Hooimeijer, Louise, Nibbeling, Esther A.R., Eckhardt, Corien L., Huisman, Elise J., Lankester, Arjan C., Bartels, Marije, Santen, Gijs W.E., Smiers, Frans J., van der Burg, Mirjam, Mohseny, Alexander B.

المساهمون: Haematologie patientenzorg, Poli Van Creveldkliniek Medisch, Child Health

مصطلحات موضوعية: AA, aplastic anemia, BMF, bone marrow failure, cytopenia, diagnostics, next-generation sequencing, Immunology and Allergy, Immunology, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/449844Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/449844Test

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النص الكامل

8

دورية أكاديمية

Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure:A Multi-Center Prospective Cohort Study

المؤلفون: Atmar, Khaled, Ruivenkamp, Claudia A.L., Hooimeijer, Louise, Nibbeling, Esther A.R., Eckhardt, Corien L., Huisman, Elise J., Lankester, Arjan C., Bartels, Marije, Santen, Gijs W.E., Smiers, Frans J., van der Burg, Mirjam, Mohseny, Alexander B.

المصدر: Atmar , K , Ruivenkamp , C A L , Hooimeijer , L , Nibbeling , E A R , Eckhardt , C L , Huisman , E J , Lankester , A C , Bartels , M , Santen , G W E , Smiers , F J , van der Burg , M & Mohseny , A B 2022 , ' Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure : A Multi-Center Prospective Cohort Study ' , Frontiers in Immunology , vol. 13 , 883826 . https://doi.org/10.3389/fimmu.2022.883826Test

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/f5972562-fcf7-40db-b1e9-8255ffff2949Test

الإتاحة: https://doi.org/10.3389/fimmu.2022.883826Test
https://pure.eur.nl/en/publications/f5972562-fcf7-40db-b1e9-8255ffff2949Test
https://pure.eur.nl/ws/files/70870316/Diagnostic_value.pdfTest
http://www.scopus.com/inward/record.url?scp=85130047638&partnerID=8YFLogxKTest

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