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Co-authors
(18)
Hans van Bokhoven
1
Patrick L. M. Huygen
1
Paul F. M. Krabbe
1
George F. Borm
1
Johannes R. M. Cruysberg
1
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EUR J HUMAN GENET
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Authors
Pauline A M P Toolens
Pauline A M P Toolens,University Medical Center St Radboud Nijmegen,Genetics & Genealogy
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Pauline A M P Toolens
University Medical Center St Radboud Nijmegen
Publications:
1
|
Citations:
22
Fields:
Genetics & Genealogy
View FAQ about top research areas and Fields of study
Collaborated with
18 co-authors
in 2005
|
Cited by
104 authors
Cumulative
Annual
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Publications
(1)
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Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
(
Citations: 22
)
Ernie M H F Bongers
,
Frans T Huysmans
,
Elena Levtchenko
,
Jacky W de Rooy
,
Johan G Blickman
,
Ronald J C Admiraal
,
Patrick L M Huygen
,
Johannes R M Cruysberg
,
Pauline A M P Toolens
,
Judith B Prins
,
Paul F M Krabbe
,
George F Borm
http://academic.research.microsoft.com/io.ashx?type=5&id=37081420&selfId1=53628972&selfId2=0&maxNumber=12&query=
Journal:
European Journal of Human Genetics - EUR J HUMAN GENET
, vol. 13, no. 8, pp. 935-946, 2005
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Citations
(22 times by 22 publications)
Hand and foot abnormalities associated with genetic diseases
Henry J. Mankin
,
Jesse Jupiter
,
Carol Ann Trahan
Journal:
Hand
, vol. 6, no. 1, pp. 18-26, 2011
Genetic Disorders of Glomerular Basement Membranes
Clifford E. Kashtan
,
Yoav Segal
Journal:
Nephron Clinical Practice - NEPHRON CLIN PRACT
, vol. 118, pp. c9-c18, 2011
Glomerular diseases: genetic causes and future therapeutics
(
Citations: 4
)
Chih-Kang Chiang
,
Reiko Inagi
Journal:
Nature Reviews Nephrology - NAT REV NEPHROL
, vol. 6, no. 9, pp. 539-554, 2010
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents
(
Citations: 1
)
Monica Marini
,
Renata Bocciardi
,
Stefania Gimelli
,
Marco Di Duca
,
Maria T. Divizia
,
Anwar Baban
,
Harald Gaspar
,
Isabella Mammi
,
Livia Garavelli
,
Roberto Cerone
,
Francesco Emma
,
Maria F. Bedeschi
http://academic.research.microsoft.com/io.ashx?type=5&id=32975929&selfId1=53628972&selfId2=0&maxNumber=12&query=
Journal:
Genetics in Medicine - GENET MED
, vol. 12, no. 7, pp. 431-439, 2010
Bilateral absence of patella
Serkan Bilgic
,
Volkan Kilincoglu
,
Koray Unay
,
Yuksel Yurttas
,
Serdar Toker
Journal:
Congenital Anomalies - CONGENIT ANOM
, vol. 50, no. 1, pp. 71-74, 2010
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