Zobrazeno 1 - 10
of 231
pro vyhledávání: '"Kooy RF"'
Autor:
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, 2p15 Consortium, 16p112 Consortium, Merla G, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::1f8f881a6e24dc628fdb56eec689dee7
http://hdl.handle.net/11588/873951
http://hdl.handle.net/11588/873951
Publikováno v:
Electric and magnetic field reception to FTIR of biomolecules, 585-632
STARTPAGE=585;ENDPAGE=632;TITLE=Electric and magnetic field reception to FTIR of biomolecules
STARTPAGE=585;ENDPAGE=632;TITLE=Electric and magnetic field reception to FTIR of biomolecules
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::0d8ac917b53fb379458e8b59691ad899
https://pure.eur.nl/en/publications/03eace0a-fa27-4603-abab-51dd7043d6ac
https://pure.eur.nl/en/publications/03eace0a-fa27-4603-abab-51dd7043d6ac
Autor:
Bakker, CE, Kooy, RF, d' Hooge, R, Tamanini, Filippo, Willemsen, Rob, Bakker, Ingeborg, Vries, LBA, Reyniers, E, Hoogeveen, Andre, Willems, PJ, de Deyn, PP, Oostra, Ben
Publikováno v:
Neuroscience Research Communications, 26(3), 265-277. John Wiley & Sons Inc.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::23573fcb3ec768e45505a09dbf9cc4de
https://pure.eur.nl/en/publications/a5fc90aa-592a-410e-9e2a-634fe7c96a25
https://pure.eur.nl/en/publications/a5fc90aa-592a-410e-9e2a-634fe7c96a25
Autor:
Kooy, RF, Reyniers, E, Storm, K, Vits, L, van Velzen, D, Ruiter, Petra, Brinkmann, Albert, de Paepa, A, Willems, PJ
Publikováno v:
American journal of medical genetics
American Journal of Medical Genetics, 85, 209-213. Wiley-Liss Inc.
American Journal of Medical Genetics, 85, 209-213. Wiley-Liss Inc.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d92dd75683ae4ea60d66610bc12c61a6
https://hdl.handle.net/10067/258080151162165141
https://hdl.handle.net/10067/258080151162165141
Publikováno v:
Trinucleotide diseases and instability, 1-46
STARTPAGE=1;ENDPAGE=46;TITLE=Trinucleotide diseases and instability
STARTPAGE=1;ENDPAGE=46;TITLE=Trinucleotide diseases and instability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::5abca7ceb92d1076615ced7ed92d97a4
https://pure.eur.nl/en/publications/c506598e-555c-4764-aaec-ebce4b4f056b
https://pure.eur.nl/en/publications/c506598e-555c-4764-aaec-ebce4b4f056b
Publikováno v:
Human genome methods, 23-53
STARTPAGE=23;ENDPAGE=53;TITLE=Human genome methods
STARTPAGE=23;ENDPAGE=53;TITLE=Human genome methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::dbac8d9ce2b8dee1fa49de6b16df3f59
https://pure.eur.nl/en/publications/4aafd29d-0745-4605-8ae1-154376ce84cc
https://pure.eur.nl/en/publications/4aafd29d-0745-4605-8ae1-154376ce84cc
Publikováno v:
GENOMICS, 30(3), 425-430. ACADEMIC PRESS INC ELSEVIER SCIENCE
Abnormalities involving chromosome 13 have been reported as the only cytogenetic change in B-cell chronic lymphocytic leukemia (BCLL). Deletions are the most common cytogenetic abnormality and always involve 13q14, but when translocations are seen, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::d89585fb20f9a96bad439fc2f8108e07
https://research.rug.nl/en/publications/1efac22b-7b7f-4cc0-bb70-39d0ff523b0c
https://research.rug.nl/en/publications/1efac22b-7b7f-4cc0-bb70-39d0ff523b0c
Publikováno v:
HUMAN GENETICS, 95(5), 589-589. SPRINGER
A highly polymorphic CA repeat was identified at D13S201, between RB1 and WND at 13q14.3.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::67799497771fdfd6639027ffa20e2627
https://research.rug.nl/en/publications/144e4e0c-69e7-405c-8891-54fc16b3df47
https://research.rug.nl/en/publications/144e4e0c-69e7-405c-8891-54fc16b3df47
Publikováno v:
European Journal of Human Genetics, 3(3), 180-187. Nature Publishing Group
37 CA repeats, 5 STSs, 9 ESTs, and 4 genes were mapped to 19 different intervals of chromosome 13 determined by the cytogenetic breakpoints of 19 different cell lines with interstitial deletions or translocations involving various parts of chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::060b2e73bac4da2665e7e2d289da8956
https://research.rug.nl/en/publications/e3628302-983e-44df-b3fd-ef63a5f274d5
https://research.rug.nl/en/publications/e3628302-983e-44df-b3fd-ef63a5f274d5
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