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Search Results - van Loon, Rosa L.E.
Search Results - van Loon, Rosa L.E.
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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
by
Broly, Martin
,
Polevoda, Bogdan V.
,
Awayda, Kamel M.
,
Tong, Ning
,
Lentini, Jenna
,
Besnard, Thomas
,
Deb, Wallid
,
O’Rourke, Declan
,
Baptista, Julia
,
Ellard, Sian
,
Almannai, Mohammed
,
Hashem, Mais
,
Abdulwahab, Ferdous
,
Shamseldin, Hanan
,
Al-Tala, Saeed
,
Alkuraya, Fowzan S.
,
Leon, Alberta
,
van Loon, Rosa L.E.
,
Ferlini, Alessandra
,
Sanchini, Mariabeatrice
,
Bigoni, Stefania
,
Ciorba, Andrea
,
van Bokhoven, Hans
,
Iqbal, Zafar
,
Al-Maawali, Almundher
,
Al-Murshedi, Fathiya
,
Ganesh, Anuradha
,
Al-Mamari, Watfa
,
Lim, Sze Chern
,
Pais, Lynn S.
,
Brown, Natasha
,
Riazuddin, Saima
,
Bézieau, Stéphane
,
Fu, Dragony
,
Isidor, Bertrand
,
Cogné, Benjamin
,
O’Connell, Mitchell R.
Published in
American journal of human genetics
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Effect of Bosentan on Exercise Capacity and Quality of Life in Adults With Pulmonary Arterial Hypertension Associated With Congenital Heart Disease With and Without Down's Syndrome
by
Duffels, Mariëlle G.J., MD
,
Vis, Jeroen C., MD
,
van Loon, Rosa L.E., MD
,
Nieuwkerk, Pythia T., MSc, PhD
,
van Dijk, Arie P.J., MD, PhD
,
Hoendermis, Elke S., MD
,
de Bruin-Bon, Rianne H.A.C.M., BSc
,
Bouma, Berto J., MD, PhD
,
Bresser, Paul, MD, PhD
,
Berger, Rolf M.F., MD, PhD
,
Mulder, Barbara J.M., MD, PhD
Published in
The American journal of cardiology
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Down patients with Eisenmenger syndrome: Is bosentan treatment an option?
by
Duffels, Mariëlle G.J
,
Vis, Jeroen C
,
van Loon, Rosa L.E
,
Berger, Rolf M.F
,
Hoendermis, Elke S
,
van Dijk, Arie P.J
,
Bouma, Berto J
,
Mulder, Barbara J.M
Published in
International journal of cardiology
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Three female patients with Danon disease presenting with predominant cardiac phenotype: a case series
by
Mulder, Bart A
,
Hoedemaekers, Yvonne M
,
van den Berg, Maarten P
,
van Loon, Rosa L E
,
Wind, Anna M
,
Jongbloed, Jan D H
,
Wiesfeld, Ans C P
Published in
European heart journal : case reports
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The etiology of cardiac hypertrophy in infants
by
Stegeman, Raymond
,
Paauw, Nina D
,
de Graaf, Rosalie
,
van Loon, Rosa L E
,
Termote, Jacqueline U M
,
Breur, Johannes M P J
Published in
Scientific reports
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Acute pulmonary vasodilator response in paediatric and adult pulmonary arterial hypertension: occurrence and prognostic value when comparing three response criteria
by
Douwes, Johannes M.
,
van Loon, Rosa L.E.
,
Hoendermis, Elke S.
,
Vonk-Noordegraaf, Anton
,
Roofthooft, Marcus T.R.
,
Talsma, Melle D.
,
Hillege, Hans L.
,
Berger, Rolf M.F.
Published in
European heart journal
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SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors
by
Oudijk, Lindsey
,
Gaal, José
,
Korpershoek, Esther
,
van Nederveen, Francien H
,
Kelly, Lorna
,
Schiavon, Gaia
,
Verweij, Jaap
,
Mathijssen, Ron H J
,
den Bakker, Michael A
,
Oldenburg, Rogier A
,
van Loon, Rosa L E
,
O'Sullivan, Maureen J
,
de Krijger, Ronald R
,
Dinjens, Winand N M
Published in
Modern pathology
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Genotype and phenotype spectrum of NRAS germline variants
by
Altmüller, Franziska
,
Lissewski, Christina
,
Bertola, Debora
,
Flex, Elisabetta
,
Stark, Zornitza
,
Spranger, Stephanie
,
Baynam, Gareth
,
Buscarilli, Michelle
,
Dyack, Sarah
,
Gillis, Jane
,
Yntema, Helger G
,
Pantaleoni, Francesca
,
van Loon, Rosa LE
,
MacKay, Sara
,
Mina, Kym
,
Schanze, Ina
,
Tan, Tiong Yang
,
Walsh, Maie
,
White, Susan M
,
Niewisch, Marena R
,
García-Miñaúr, Sixto
,
Plaza, Diego
,
Ahmadian, Mohammad Reza
,
Cavé, Hélène
,
Tartaglia, Marco
,
Zenker, Martin
Published in
European journal of human genetics : EJHG
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Erythropoietin Attenuates Pulmonary Vascular Remodeling in Experimental Pulmonary Arterial Hypertension through Interplay between Endothelial Progenitor Cells and Heme Oxygenase
by
van Loon, Rosa Laura E
,
Bartelds, Beatrijs
,
Wagener, Frank A D T G
,
Affara, Nada
,
Mohaupt, Saffloer
,
Wijnberg, Hans
,
Pennings, Sebastiaan W C
,
Takens, Janny
,
Berger, Rolf M F
Published in
Frontiers in pediatrics
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