المؤلفون: Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora^{Aff5, Aff6}, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid^{Aff17, Aff18, Aff19}, Eslahi, Atieh^{Aff17, Aff20}, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor^{Aff23, Aff24}, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza^{Aff36, Aff37}, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan^{Aff39, Aff40}, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan^Aff1

المصدر: Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 139(3):415-442

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المؤلفون: Levink, Iris J.M., Srebniak, Malgorzata I., De Valk, Walter G., van Veghel-Plandsoen, Monique M., Wagner, Anja, Cahen, Djuna L., Fuhler, Gwenny M., Bruno, Marco J.

المصدر: Levink , I J M , Srebniak , M I , De Valk , W G , van Veghel-Plandsoen , M M , Wagner , A , Cahen , D L , Fuhler , G M & Bruno , M J 2023 , ' An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer ' , International Journal of Molecular Sciences , vol. 24 , no. 6 , 5097 .

مصطلحات الفهرس: dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being; name=SDG 3 - Good Health and Well-being, article

URL: https://pure.eur.nl/en/publications/be221b3b-fc68-40b6-b9c7-54ecb3d46fca

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المؤلفون: Srebniak, Malgorzata I., Jehee, Fernanda S., Joosten, Marieke, Boter, Marjan, de Valk, Walter G., van der Helm, Robert, Sistermans, Erik A., Voorhoeve, Els, Bhola, Shama, Hoffer, Mariette J.V., den Hollander, Nicolette, Macville, Merryn V.E., Van Opstal, Diane

المصدر: Srebniak , M I , Jehee , F S , Joosten , M , Boter , M , de Valk , W G , van der Helm , R , Sistermans , E A , Voorhoeve , E , Bhola , S , Hoffer , M J V , den Hollander , N , Macville , M V E & Van Opstal , D 2021 , ' Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go? ' , Acta Obstetricia et Gynecologica Scandinavica , vol. 100 , no. 11 , pp. 2036-2043 .

مصطلحات الفهرس: article

URL: https://pure.eur.nl/en/publications/048bb93b-7bf4-4f1a-be7a-c8a9964c7b68

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المؤلفون: Dekker J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Bongaerts M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., de Valk WG; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Veghel-Plandsoen MM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Monfils K; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Douben H; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Elfferich P; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Kasteleijn E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Unen LMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Geeven G; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Saris JJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Ierland Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Verheijen FW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van der Sterre MLT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Sadeghi Niaraki F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Smits DJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Huidekoper HH; Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Williams M; Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Verhoeven VJM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Joosten M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Hoogeveen-Westerveld M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Nellist M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Mancini GMS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands. Electronic address: t.vanham@erasmusmc.nl.

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Feb 02; Vol. 110 (2), pp. 251-272. Date of Electronic Publication: 2023 Jan 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Profiling* , Neurodevelopmental Disorders*/diagnosis , Neurodevelopmental Disorders*/genetics, Humans ; RNA-Seq ; Cycloheximide ; Sequence Analysis, RNA/methods