نتائج البحث - "Parbhoo, Kareesma"

1

دورية أكاديمية

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

المؤلفون: van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael

المصدر: Genetics in Medicine ; volume 25, issue 2, page 100004 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.100004Test
https://api.elsevier.com/content/article/PII:S1098360022010711?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022010711?httpAccept=text/plainTest

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2

دورية أكاديمية

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

المؤلفون: van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O'Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

المصدر: van der Sluijs , P J , Joosten , M , Alby , C , Attié-Bitach , T , Gilmore , K , Dubourg , C , Fradin , M , Wang , T , Kurtz-Nelson , E C , Ahlers , K P , Arts , P , Barnett , C P , Ashfaq , M , Baban , A , van den Born , M , Borrie , S , Busa , T , Byrne , A , Carriero , M , Cesario , C , Chong , K , Cueto-González , A M , Dempsey , ....

العلاقة: https://pure.eur.nl/en/publications/2accdc59-2152-4691-8b7a-11dd29e7a796Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.04.010Test
https://pure.eur.nl/en/publications/2accdc59-2152-4691-8b7a-11dd29e7a796Test
http://www.scopus.com/inward/record.url?scp=85130377668&partnerID=8YFLogxKTest

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3

دورية أكاديمية

A case series of familial ARID1B variants illustrating variable expression and suggestions to update the ACMG criteria

المصدر: van der Sluijs , P J , Alders , M , Dingemans , A J M , Parbhoo , K , van Bon , B W , Dempsey , J C , Doherty , D , Den Dunnen , J T , Gerkes , E H , Milller , I M , Moortgat , S , Regier , D S , Ruivenkamp , C A L , Schmalz , B , Smol , T , Stuurman , K E , Vincent-Delorme , C , de Vries , B B A , Sadikovic , B , Hickey , S E ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.3390/genes12081275Test
https://pure.eur.nl/en/publications/2f02c599-f577-4093-a929-2db3ebd1ecacTest
https://pure.eur.nl/ws/files/42112420/A_Case_Series_of_Familial_ARID1B_Variants_Illustrating_Variable_Expression_and_Suggestions_to_Update_the_ACMG_Criteria.pdfTest
http://www.scopus.com/inward/record.url?scp=85113286631&partnerID=8YFLogxKTest

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4

دورية أكاديمية

Prenatal Genetic Testing and Screening: A Focused Review

المؤلفون: Caceres, Valentina, Murray, Thomas, Myers, Cortlandt, Parbhoo, Kareesma

المصدر: Seminars in Pediatric Neurology ; volume 42, page 100976 ; ISSN 1071-9091

مصطلحات موضوعية: Neurology (clinical), Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.spen.2022.100976Test
https://api.elsevier.com/content/article/PII:S1071909122000249?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1071909122000249?httpAccept=text/plainTest

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5

دورية أكاديمية

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

المؤلفون: Sluijs, P.J. van der, Alders, M., Dingemans, A.J.M., Parbhoo, Kareesma, Bon, B.W. van, Dempsey, J.C., Vries, B.B.A. de, Maystadt, I., Santen, G.W.E.

المصدر: Genes, 12, 8

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/237017/237017.pdfTest; https://repository.ubn.ru.nl/handle/2066/237017Test; https://doi.org/10.3390/genes12081275Test

الإتاحة: https://doi.org/10.3390/genes12081275Test
https://repository.ubn.ru.nl//bitstream/handle/2066/237017/237017.pdfTest
https://repository.ubn.ru.nl/handle/2066/237017Test

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6

دورية أكاديمية

RANBP9 affects cancer cells response to genotoxic stress and its overexpression is associated with worse response to platinum in NSCLC patients

المساهمون: Tessari, Anna, Parbhoo, Kareesma, Pawlikowski, Meghan, Fassan, Matteo, Rulli, Eliana, Foray, Claudia, Fabbri, Alessandra, Embrione, Valerio, Ganzinelli, Monica, Capece, Marina, Campbell, Moray J., Broggini, Massimo, La Perle, Krista, Farina, Gabriella, Cole, Sara, Marabese, Mirko, Hernandez, Marianna, Amann, Joseph M., Pruneri, Giancarlo, Carbone, David P., Garassino, Marina C., Croce, Carlo M., Palmieri, Dario, Coppola, Vincenzo

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Animal, Antineoplastic Agent, Biomarkers, Tumor, Carcinoma, Non-Small-Cell Lung, Cisplatin, Cytoskeletal Protein, DNA Damage, Drug Resistance, Neoplasm, Female, Human, Lung Neoplasm, Male, Mice, Nude, Nuclear Protein, Xenograft Model Antitumor Assay, Molecular Biology, Genetic, Cancer Research

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30076413; info:eu-repo/semantics/altIdentifier/wos/WOS:000452989100006; volume:37; issue:50; firstpage:6463; lastpage:6476; numberofpages:14; journal:ONCOGENE; http://hdl.handle.net/11577/3291013Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052532160; http://www.nature.com/onc/index.htmlTest

الإتاحة: https://doi.org/10.1038/s41388-018-0424-8Test
http://hdl.handle.net/11577/3291013Test
http://www.nature.com/onc/index.htmlTest

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