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Gerard Pals
Gerard Pals
Amsterdam University medical centers Amsterdam, The Netherlands; Universitas Gadjah Mada, Yogyakarta
Подтвержден адрес электронной почты в домене amsterdamumc.nl - Главная страница
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Год
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
JP Schouten, CJ McElgunn, R Waaijer, D Zwijnenburg, F Diepvens, ...
Nucleic acids research 30 (12), e57-e57, 2002
34132002
Biallelic inactivation of BRCA2 in Fanconi anemia
NG Howlett, T Taniguchi, S Olson, B Cox, Q Waisfisz, C de Die-Smulders, ...
Science 297 (5581), 606-609, 2002
14612002
Long-term sequelae of Helicobacter pylori gastritis
EJ Kuipers, AS Peña, HPM Festen, SGM Meuwissen, AM Uyterlinde, ...
The Lancet 345 (8964), 1525-1528, 1995
10851995
Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer
JMJ Piek, PJ Van Diest, RP Zweemer, JW Jansen, RJJ Poort‐Keesom, ...
The Journal of Pathology: A Journal of the Pathological Society of Great …, 2001
9982001
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
IMBH van de Laar, RA Oldenburg, G Pals, JW Roos-Hesselink, ...
Nature genetics 43 (2), 121-126, 2011
7292011
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
B Xia, JC Dorsman, N Ameziane, Y De Vries, MA Rooimans, Q Sheng, ...
Nature genetics 39 (2), 159-161, 2007
5552007
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
M Levitus, Q Waisfisz, BC Godthelp, Y Vries, S Hussain, WW Wiegant, ...
Nature genetics 37 (9), 934-935, 2005
5402005
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA
JR Lo Ten Foe, MA Rooimans, L Bosnoyan-Collins, N Alon, M Wijker, ...
Nature genetics 14 (3), 320-323, 1996
5201996
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
FBL Hogervorst, PM Nederlof, JJP Gille, CJ McElgunn, M Grippeling, ...
Cancer research 63 (7), 1449-1453, 2003
4162003
X-linked inheritance of Fanconi anemia complementation group B
AR Meetei, M Levitus, Y Xue, AL Medhurst, M Zwaan, C Ling, ...
Nature genetics 36 (11), 1219-1224, 2004
3982004
PPIB mutations cause severe osteogenesis imperfecta
FS van Dijk, IM Nesbitt, EH Zwikstra, PGJ Nikkels, SR Piersma, ...
The American Journal of Human Genetics 85 (4), 521-527, 2009
3242009
Classification of osteogenesis imperfecta revisited
FS Van Dijk, G Pals, RR Van Rijn, PGJ Nikkels, JM Cobben
European journal of medical genetics 53 (1), 1-5, 2010
3102010
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
B Loeys, J De Backer, P Van Acker, K Wettinck, G Pals, L Nuytinck, ...
Human mutation 24 (2), 140-146, 2004
3012004
Osteogenesis imperfecta: a review with clinical examples
FS van Dijk, JM Cobben, A Kariminejad, A Maugeri, PGJ Nikkels, ...
Molecular syndromology 2 (1), 1-20, 2011
2942011
Seroconversion for Helicobacter pylori
EJ Kuipers, AS Pena, NFM Pels, E Kurz-Pohlmann, SGM Meuwissen, ...
The lancet 342 (8867), 328-331, 1993
2881993
Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
IMBH van de Laar, D van der Linde, EHG Oei, PK Bos, JH Bessems, ...
Journal of medical genetics 49 (1), 47-57, 2012
2772012
Searching for preeclampsia genes: the current position
AMA Lachmeijer, GA Dekker, G Pals, JG Aarnoudse, LP ten Kate, ...
European Journal of Obstetrics & Gynecology and Reproductive Biology 105 (2 …, 2002
2562002
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
A Onoufriadis, T Paff, D Antony, A Shoemark, D Micha, B Kuyt, ...
The American Journal of Human Genetics 92 (1), 88-98, 2013
2202013
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families
T Peelen, M Van Vliet, A Petrij-Bosch, R Mieremet, C Szabo, ...
American journal of human genetics 60 (5), 1041, 1997
2161997
PLS3 mutations in X-linked osteoporosis with fractures
FS van Dijk, MC Zillikens, D Micha, M Riessland, CLM Marcelis, ...
New England Journal of Medicine 369 (16), 1529-1536, 2013
2142013
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Статьи 1–20