المؤلفون: Judd, Sandra, Revon‐Riviere, Gabriel, Grover, Stephanie A., Deyell, Rebecca J., Vanan, Magimairajan Issai, Lewis, Victor A., Pecheux, Lucie, Zorzi, Alexandra P., Goudie, Catherine, Santiago, Raoul, Tran, Thai Hoa, Abbott, Lesleigh S., Brossard, Josee, Moorehead, Paul, Alvi, Saima, Portwine, Carol, Denburg, Avram, Whitlock, James A., Cohen‐Gogo, Sarah, Morgenstern, Daniel A.

المصدر: Cancer Medicine ; volume 13, issue 3 ; ISSN 2045-7634 2045-7634

الإتاحة: https://doi.org/10.1002/cam4.7033Test

المؤلفون: Elitzur, Sarah, Shiloh, Ruth, Loeffen, Jan L C, Pastorczak, Agata, Takagi, Masatoshi, Bomken, Simon, Baruchel, André, Lehrnbecher, Thomas, Tasian, Sarah K, Abla, Oussama, Arad-Cohen, Nira, Astigarraga, Itziar, Ben-Harosh, Miriam, Bodmer, Nicole, Brozou, Triantafyllia, Ceppi, Francesco, Chugaeva, Liliia, Dalla-Pozza, Luciano, Ducassou, Stéphane, Escherich, Gabriele, Farah, Roula, Gibson, Amber, Hasle, Henrik, Hoveyan, Julieta, Jacoby, Elad, Jazbec, Janez, Junk, Stefanie Verena, Kolenova, Alexandra, Lazic, Jelena, Lo Nigro, Luca, Mahlaoui, Nizar, Miller, Lane H, Papadakis, Vassilios, Pecheux, Lucie, Pillon, Marta, Sarouk, Ifat, Stary, Jan, Stiakaki, Eftichia, Strullu, Marion, Tran, Thai Hoa, Ussowicz, Marek, Verdu-Amorós, Jaime, Wakuliñska, Anna Zofia, Zawitkowska, Joanna, Stoppa-Lyonnet, Dominique, Taylor, Alexander Malcolm, Shiloh, Yosef, Izraeli, Shai, Minard-Colin, Véronique, Schmiegelow, Kjeld, Nirel, Ronit, Attarbaschi, Andishe, Borkhardt, Arndt

المصدر: Blood ; ISSN:1528-0020

العلاقة: https://doi.org/10.1182/blood.2024024283Test; https://pubmed.ncbi.nlm.nih.gov/38917355Test

الإتاحة: https://doi.org/10.1182/blood.2024024283Test
https://pubmed.ncbi.nlm.nih.gov/38917355Test

المؤلفون: Van de Sompele, Stijn, PECHEUX, Lucie, Couso, Jorge, Meunier, Audrey, Sanchez-Fernandez, Mayka, De Baere, Elfride

مصطلحات موضوعية: Síndrome d'hiperferritinèmia-cataracta hereditària, Mutacions, Mutacions heterozigotes, Síndrome de hiperferritinemia-cataracta hereditaria, Mutaciones, Mutaciones heterocigotas, Hereditary hyperferritinemia-cataract syndrome, Mutations, Heterozygous mutations

الوقت: 57

وصف الملف: application/pdf

العلاقة: Scientific Reports; 7; Van de Sompele, Stijn; Pécheux, Lucie; Couso, Jorge [et al.]. Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome. Scientific Reports, 2017, 7, 18025. Disponible en: . Fecha de acceso: 18 ene. 2022. DOI:10.1038/s41598-017-18326-6; http://hdl.handle.net/20.500.12328/3074Test; http://www.dx.doi.org/10.1038/s41598-017-18326-6Test

الإتاحة: https://doi.org/20.500.12328/3074Test
https://doi.org/10.1038/s41598-017-18326-6Test
https://hdl.handle.net/20.500.12328/3074Test

المؤلفون: Mark, Catherine, Gibson, Paul, Lafay-Cousin, Lucie, Martin, Georgina, Oberoi, Sapna, Pecheux, Lucie, Rassekh, Shahrad R., Zorzi, Alexandra, Alexander, Sarah, Gupta, Sumit

المصدر: Journal of Pediatric Hematology/Oncology; Aug2023, Vol. 45 Issue 6, pe689-e694, 6p

المؤلفون: Pécheux, Lucie, FORGET, Patricia, Geurten, Claire, Rausin, L., Nicolescu, Corina Ramona, HOYOUX, Claire

المصدر: Revue Médicale de Liège, 73 (11), 575-582 (2018-11)

مصطلحات موضوعية: Avascular necrosis, Bone pain, Fractures, Osteopenia, Osteoporosis, Acute lymphoblastic leukemia, Human health sciences, Oncology, Pediatrics, Sciences de la santé humaine, Oncologie, Pédiatrie

العلاقة: urn:issn:0370-629X; urn:issn:2566-1566; https://orbi.uliege.be/handle/2268/232044Test; info:hdl:2268/232044; https://orbi.uliege.be/bitstream/2268/232044/1/Atteintes%20osseuses%20des%20leuc%c3%a9mies%20lymphoblastiques%20aigu%c3%abs%20p%c3%a9diatriques.pdfTest; scopus-id:2-s2.0-85056667119; info:pmid:30431247

الإتاحة: https://orbi.uliege.be/handle/2268/232044Test
https://orbi.uliege.be/bitstream/2268/232044/1/Atteintes%20osseuses%20des%20leuc%c3%a9mies%20lymphoblastiques%20aigu%c3%abs%20p%c3%a9diatriques.pdfTest

المؤلفون: Van de Sompele, Stijn, Pécheux, Lucie, Couso, Jorge, Meunier, Audrey, Sanchez, Mayka, De Baere, Elfride

المصدر: SCIENTIFIC REPORTS ; ISSN: 2045-2322

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, consanguinity, disease genetics, DNA sequencing, functional genomics, genetic testing, MESSENGER-RNA, LIGHT-CHAIN, MOLECULAR FINDINGS, WEB SERVER, BINDING, GENE, PHENOTYPE, FAMILIES, LENS

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8542419Test; http://hdl.handle.net/1854/LU-8542419Test; http://dx.doi.org/10.1038/s41598-017-18326-6Test; https://biblio.ugent.be/publication/8542419/file/8542962Test

الإتاحة: https://doi.org/10.1038/s41598-017-18326-6Test
https://biblio.ugent.be/publication/8542419Test
http://hdl.handle.net/1854/LU-8542419Test
https://biblio.ugent.be/publication/8542419/file/8542962Test

المؤلفون: Van De Sompele, Stijn, Pécheux, Lucie, Couso, Jorge, Meunier, Audrey, Sanchez, Mayka, De Baere, Elfride

المصدر: Scientific reports, 7 (1

مصطلحات موضوعية: Phénomènes atmosphériques

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1038/s41598-017-18326-6; uri/info:scp/85038896630; https://dipot.ulb.ac.be/dspace/bitstream/2013/269739/3/doi_253366.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/269739Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/269739Test

المؤلفون: Van de Sompele, Stijn, Meunier, Audrey, Pécheux, Lucie, De Baere, Elfride

المصدر: Belgian Society for Human Genetics, 17th Annual meeting, Abstracts

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences

العلاقة: https://biblio.ugent.be/publication/8556168Test; http://hdl.handle.net/1854/LU-8556168Test

الإتاحة: https://biblio.ugent.be/publication/8556168Test
http://hdl.handle.net/1854/LU-8556168Test

المؤلفون: Elitzur, Sarah, Shiloh, Ruth, Loeffen, Jan L C, Pastorczak, Agata, Takagi, Masatoshi, Bomken, Simon, Baruchel, Andre, Lehrnbecher, Thomas, Tasian, Sarah K, Abla, Oussama, Arad-Cohen, Nira, Astigarraga, Itziar, Ben-Harosh, Miriam, Bodmer, Nicole, Brozou, Triantafyllia, Ceppi, Francesco, Chugaeva, Liliia, Dalla Pozza, Luciano, Ducassou, Stephane, Escherich, Gabriele, Farah, Roula, Gibson, Amber, Hasle, Henrik, Hoveyan, Julieta, Jacoby, Elad, Jazbec, Janez, Junk, Stefanie, Kolenova, Alexandra, Lazic, Jelena, Lo Nigro, Luca, Mahlaoui, Nizar, Miller, Lane, Papadakis, Vassilios, Pecheux, Lucie, Pillon, Marta, Sarouk, Ifat, Stary, Jan, Stiakaki, Eftichia, Strullu, Marion, Tran, Thai Hoa, Ussowicz, Marek, Verdu-Amoros, Jaime, Wakulinska, Anna, Zawitkowska, Joanna, Stoppa-Lyonnet, Dominique, Taylor, Malcolm, Shiloh, Yosef, Izraeli, Shai, Minard-Colin, Veronique, Schmiegelow, Kjeld, Nirel, Ronit, Attarbaschi, Andishe, Borkhardt, Arndt

المصدر: Blood; 20240101, Issue: Preprints

المؤلفون: Elitzur, Sarah, Shiloh, Ruth, Loeffen, Jan, Pastorczak, Agata, Takagi, Masatoshi, Bomken, Simon, Baruchel, Andre, Ducassou, Stephane, Mahlaoui, Nizar, Strullu, Marion, Lehrnbecher, Thomas, Schmiegelow, Kjeld, Abla, Oussama, Anderzhanova, Liliia, Arad-Cohen, Nira, Astigarraga, Itziar, Ben-Harosh, Miriam, Ceppi, Francesco, Bodmer, Nicole, Brozou, Triantafyllia, Dalla-Pozza, Luciano, Escherich, Gabriele, Farah, Roula, Gibson, Amber, Hasle, Henrik, Hoveyan, Julieta, Jacoby, Elad, Jazbec, Janez, Kolenova, Alexandra, Lazic, Jelena, Lo Nigro, Luca, Miller, Lane, Papadakis, Vassilios, Pecheux, Lucie, Pillon, Marta, Sarouk, Ifat, Stary, Jan, Stiakaki, Eftichia, Tasian, Sarah K., Tran, Thai Hoa, Ussowicz, Marek, Verdu-Amoros, Jose Jaime, Wakulinska, Anna, Zawitkowska, Joanna, Stoppa-Lyonnet, Dominique, Taylor, Malcolm, Shiloh, Yosef, Izraeli, Shai, Nirel, Ronit, Minard-Colin, Veronique, Attarbaschi, Andishe, Borkhardt, Arndt

المصدر: Blood; November 2023, Vol. 142 Issue: 1, Number 1 Supplement 1 p520-520, 1p