Zobrazeno 1 - 10
of 289
pro vyhledávání: '"Schuurman, EJ"'
Autor:
Bergen, AA, Wapenaar, MC, Schuurman, EJ, Diergaarde, PJ, Lerach, H, Monaco, AP, Bakker, E, Bleeker-Wagemakers, EM, van Ommen, GJ
Publikováno v:
Cytogenetics and cell genetics, 62(4), 231-235. S. Karger AG
Differential Alu PCR fingerprint cloning was used to isolate a DNA probe from the Xp11.4-->p11.21 region of the human X chromosome. This novel sequence, cpXr318 (DXS742), detects a new submicroscopic deletion interval at the Norrie disease locus (NDP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a00a3f7c0933a3ff73178d822841dd9e
https://doi.org/10.1159/000133484
https://doi.org/10.1159/000133484
Autor:
Auwerx, Chiara1,2,3,4 (AUTHOR) chiara.auwerx@unil.ch, Jõeloo, Maarja5,6 (AUTHOR), Sadler, Marie C.2,3,4 (AUTHOR), Tesio, Nicolò1 (AUTHOR), Ojavee, Sven2,3 (AUTHOR), Clark, Charlie J.1 (AUTHOR), Mägi, Reedik6 (AUTHOR), Estonian Biobank Research Team (AUTHOR), Esko, Tõnu (AUTHOR), Metspalu, Andres (AUTHOR), Milani, Lili (AUTHOR), Nelis, Mari (AUTHOR), Reymond, Alexandre1 (AUTHOR) alexandre.reymond@unil.ch, Kutalik, Zoltán2,3,4 (AUTHOR) zoltan.kutalik@unil.ch
Publikováno v:
Genome Medicine. 1/8/2024, Vol. 16 Issue 1, p1-24. 24p.
Akademický článek
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Autor:
Sacconi, Riccardo1,2 (AUTHOR), Tombolini, Beatrice1,2 (AUTHOR), Zucchiatti, Ilaria1,2 (AUTHOR), Servillo, Andrea1,2 (AUTHOR), Menean, Matteo1,2 (AUTHOR), Alessandrini, Giulio Falco1 (AUTHOR), Querques, Lea2 (AUTHOR), Prascina, Francesco2 (AUTHOR), Charbel Issa, Peter3,4 (AUTHOR), Bandello, Francesco1,2 (AUTHOR), Querques, Giuseppe1,2,5 (AUTHOR) giuseppe.querques@hotmail.it
Publikováno v:
Ophthalmology & Therapy. Oct2023, Vol. 12 Issue 5, p2729-2743. 15p.
Publikováno v:
Neurology: Genetics; Oct2024, Vol. 10 Issue 5, p1-12, 12p
Autor:
Stef MA; Progenika Biopharma SA, Derio, Spain. mstef@progenika.com, Palacios L, Olano-Martín E, Foe-A-Man C, van de Kerkhof L, Klaaijsen LN, Molano A, Schuurman EJ, Tejedor D, Defesche JC
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2013 May; Vol. 15 (3), pp. 362-72. Date of Electronic Publication: 2013 Mar 26.
Autor:
Defesche JC; Department of Vascular Medicine, Academic Medical Centre at the University of Amsterdam, Amsterdam, The Netherlands. j.defesche@amc.uva.nl, Schuurman EJ, Klaaijsen LN, Khoo KL, Wiegman A, Stalenhoef AF
Publikováno v:
Clinical genetics [Clin Genet] 2008 Jun; Vol. 73 (6), pp. 573-8. Date of Electronic Publication: 2008 Apr 08.
Autor:
Bergen AA; Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands., ten Brink JB, Riemslag F, Schuurman EJ, Meire F, Tijmes N, de Jong PT
Publikováno v:
Journal of medical genetics [J Med Genet] 1996 Oct; Vol. 33 (10), pp. 869-72.
Autor:
Bergen AA; The Netherlands Ophthalmic Research Institute, Amsterdam., Van den Born LI, Schuurman EJ, Pinckers AJ, Van Ommen GJ, Bleekers-Wagemakers EM, Sandkuijl LA
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 1995 Jun; Vol. 16 (2), pp. 63-70.
Autor:
Bergen AA; The Netherlands Ophthalmic Research Institute, Amsterdam., ten Brink JB, Riemslag F, Schuurman EJ, Tijmes N
Publikováno v:
Human molecular genetics [Hum Mol Genet] 1995 May; Vol. 4 (5), pp. 931-5.