Researcher
Miriam Schmidts
Radboud university medical center
Statistics
29 papers found
All papers authored by Miriam Schmidts
Refreshing results…
2018
Atteeq U. Rehman,
Maryam Najafi,
Marios Kambouris,
Lihadh Al Gazali 
,
Periklis Makrythanasis,
Abolfazl Rad,
Reza Maroofian,
Anna Rajab,
Zornitza Stark,
Jill V. Hunter,
Zeineb Bakey,
Mari J. Tokita,
Weimin He,
Francesco Vetrini,
Andrea Petersen
and 19 other authors
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,
Periklis Makrythanasis,
Abolfazl Rad,
Reza Maroofian,
Anna Rajab,
Zornitza Stark,
Jill V. Hunter,
Zeineb Bakey,
Mari J. Tokita,
Weimin He,
Francesco Vetrini,
Andrea Petersen
and 19 other authors
Upload
2015
Elisabeth M. van Leeuwen,
Em van Leeuwen,
Cornelia M. van Duijn,
Hou-Feng Zheng,
James T. R. Walters,
Guangbiao Wang,
Jun Wang,
Yu Wang,
Kirsten Ward,
Eleanor Wheeler,
Peter Whincup,
Tamieka Whyte,
Hywel J. Williams,
Kathleen A. Williamson,
Crispian Wilson
and 252 other authors
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Download from www.nature.com
Elisabeth M. van Leeuwen,
Em van Leeuwen,
Cornelia M. van Duijn,
Eleftheria Zeggini ,
Pingbo Zhang,
Feng Zhang,
Hou-Feng Zheng,
Jian Yang ,
Weihua Zhang,
Gianluigi Zaza ,
Josine L. Min,
John R. B. Perry,
Nicole Soranzo Production group Senduran Bala,
Peter Clapham,
Consortium Uk10k
and 273 other authors
,
Pingbo Zhang,
Feng Zhang,
Hou-Feng Zheng,
Jian Yang ,
Weihua Zhang,
Gianluigi Zaza ,
Josine L. Min,
John R. B. Perry,
Nicole Soranzo Production group Senduran Bala,
Peter Clapham,
Consortium Uk10k
and 273 other authors
The UK10K project identifies rare variants in health and disease
Download from www.nature.com
K. Szymanska,
G. Wheway,
D. Doherty,
G. Tödt,
D. Mans,
K. Wunderlich,
Tmt Nguyen,
K. Boldt,
Miriam Schmidts ,
N. Sorusch,
Z. Abdelhamed,
U. Wolfrum,
Da Parry,
M. Ueffing,
S. Natarajan
and 5 other authors
Download from dx.doi.org
,
N. Sorusch,
Z. Abdelhamed,
U. Wolfrum,
Da Parry,
M. Ueffing,
S. Natarajan
and 5 other authors
Download from dx.doi.org
Sylvia E. C. van Beersum,
Jeroen van Reeuwijk ,
Yap Zm,
Margriet van Kogelenberg,
Uk10k,
Claudio R. Cortés,
Dorus A. Mans ,
Miriam Schmidts ,
Jean-Marc Plaza,
S. Paige Taylor,
Zhi Min Yap,
Sp Paige Taylor,
Stef J. F. Letteboer,
Yuqing Hou,
Warren Herridge
and 191 other authors
Download from www.nature.com
,
Yap Zm,
Margriet van Kogelenberg,
Uk10k,
Claudio R. Cortés,
Dorus A. Mans ,
Miriam Schmidts ,
Jean-Marc Plaza,
S. Paige Taylor,
Zhi Min Yap,
Sp Paige Taylor,
Stef J. F. Letteboer,
Yuqing Hou,
Warren Herridge
and 191 other authors
Download from www.nature.com
Shane Mccarthy,
Scott G. Wilson ,
Wei Yuan,
James T. R. Walters,
Wolfram Woltersdorf,
Eleftheria Zeggini ,
Hou-Feng Zheng,
Guangbiao Wang,
Jun Wang,
Yu Wang,
Kirsten J. Ward,
Elanor Wheeler,
Tamieka Whyte,
Hywel Williams,
Kathleen A. Williamson
and 234 other authors
,
Wei Yuan,
James T. R. Walters,
Wolfram Woltersdorf,
Eleftheria Zeggini ,
Hou-Feng Zheng,
Guangbiao Wang,
Jun Wang,
Yu Wang,
Kirsten J. Ward,
Elanor Wheeler,
Tamieka Whyte,
Hywel Williams,
Kathleen A. Williamson
and 234 other authors
Whole-genome sequence-based analysis of thyroid function
Download from www.nature.com
Gabrielle Wheway,
Jeroen van Reeuwijk,
Miriam Schmidts ,
Dorus A. Mans,
Katarzyna Szymanska,
Thanh-Minh T. Nguyen,
Kirsten A. Wunderlich,
Hilary Racher,
Ian G. Phelps,
Grischa Toedt,
Julie Kennedy,
Nasrin Sorusch,
Zakia A. Abdelhamed,
Subaashini Natarajan,
Warren Herridge
and 64 other authors
Download from dx.doi.org
,
Dorus A. Mans,
Katarzyna Szymanska,
Thanh-Minh T. Nguyen,
Kirsten A. Wunderlich,
Hilary Racher,
Ian G. Phelps,
Grischa Toedt,
Julie Kennedy,
Nasrin Sorusch,
Zakia A. Abdelhamed,
Subaashini Natarajan,
Warren Herridge
and 64 other authors
Download from dx.doi.org
2014
Christine P. Diggle,
Daniel J. Moore,
Girish Mali,
Petra zur Lage,
Petra Zur Lage,
Aouatef Ait-Lounis,
Miriam Schmidts ,
Amelia Shoemark,
Amaya Garcia Munoz,
Amaya Garcia Munoz,
Mihail R. Halachev,
Philippe Gautier,
Patricia L. Yeyati,
David T. Bonthron,
Ian M. Carr
and 11 other authors
,
Amelia Shoemark,
Amaya Garcia Munoz,
Amaya Garcia Munoz,
Mihail R. Halachev,
Philippe Gautier,
Patricia L. Yeyati,
David T. Bonthron,
Ian M. Carr
and 11 other authors
HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus
Download from dx.doi.org
Davut Pehlivan,
Ka Williamson,
Stefan Johansson,
Hemant Bengani,
Luis Sanchez-Pulido,
Ja Floyd,
Mehmet Ture,
Heather Barker,
Karen Rosendahl,
Jürgen Spranger,
Ca Anderson,
Denise Horn,
Alison Meynert,
Carl A. Anderson,
Jk Rainger
and 58 other authors
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Download from doi.org
Miriam Schmidts
Clinical genetics and pathobiology of ciliary chondrodysplasias.
Download from www.ncbi.nlm.nih.gov
Cr Cortés,
Miriam Schmidts ,
Am McInerney-Leo,
Julia Vodopiutz,
Sonia Christou-Savina,
Jason D'Silva,
Richard David Emes,
Pj J. Leo,
Rd D. Emes ,
Heleen H. Arts,
Beyhan Tüysüz,
Jason D’Silva,
Hh Heleen H Arts,
Jason D. Silva,
Ja A. Harris
and 26 other authors
Download from citeseerx.ist.psu.edu
,
Am McInerney-Leo,
Julia Vodopiutz,
Sonia Christou-Savina,
Jason D'Silva,
Richard David Emes,
Pj J. Leo,
Rd D. Emes ,
Heleen H. Arts,
Beyhan Tüysüz,
Jason D’Silva,
Hh Heleen H Arts,
Jason D. Silva,
Ja A. Harris
and 26 other authors
Download from citeseerx.ist.psu.edu
Margriet van Kogelenberg,
Sh H. Zhan,
Jan Halbritter,
Aa Albane A. Bizet,
Bizet Aa,
Miriam Schmidts ,
Da A. Braun,
Jonathan D. Porath,
Hy Y. Gee,
Porath Jd,
Am M. McInerney-Leo,
Pg G. Czarnecki,
Braun Da,
Gee Hy,
Am M. Lehman
and 101 other authors
,
Da A. Braun,
Jonathan D. Porath,
Hy Y. Gee,
Porath Jd,
Am M. McInerney-Leo,
Pg G. Czarnecki,
Braun Da,
Gee Hy,
Am M. Lehman
and 101 other authors
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans.
Download from discovery.ucl.ac.uk
Margriet van Kogelenberg,
Aideen M. McInerney-Leo,
Saeed Al-Turki,
Carl Anderson,
Miriam Schmidts ,
Dinu Antony,
Inês Barroso,
Jamie Bentham,
Claudio R. Cortés,
Shoumo Bhattacharya,
Keren Carss,
Paul J. Leo,
Krishna Chatterjee,
Sebahattin Cirak,
Catherine Cosgrove
and 43 other authors
,
Dinu Antony,
Inês Barroso,
Jamie Bentham,
Claudio R. Cortés,
Shoumo Bhattacharya,
Keren Carss,
Paul J. Leo,
Krishna Chatterjee,
Sebahattin Cirak,
Catherine Cosgrove
and 43 other authors
Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
Download from doi.org
Dj Moore,
Alexandros Onoufriadis,
Pi Zur Lage,
Amelia Shoemark,
Michael A. Simpson,
Petra I. zur Lage,
Sandra C. de Castro,
Lucia Bartoloni,
Giuseppe Gallone,
Stavroula Petridi,
Dinu Antony,
Miriam Schmidts ,
Sc De Castro,
Wj Woollard,
Teresa Didonna
and 18 other authors
Download from doi.org
,
Sc De Castro,
Wj Woollard,
Teresa Didonna
and 18 other authors
Download from doi.org
Aarti Tarkar,
Niki T. Loges,
Christopher E. Slagle,
Loges Nt,
Gerard W. Dougherty,
Doughrty Gw,
Richard Francis,
Slagle Ce,
Joel V. Tamayo,
Tamayo Jv,
Brett Shook ,
M. Abouhammed,
Marie Cantino,
Daniel Schwartz,
Charlotte Jahnke
and 49 other authors
,
M. Abouhammed,
Marie Cantino,
Daniel Schwartz,
Charlotte Jahnke
and 49 other authors
DYX1C1 is required for axonemal dynein assembly and ciliary motility
Download from europepmc.org
Miriam Schmidts ,
Heleen H. Arts,
Ernie M. H. F. Bongers,
Zhimin Yap,
Machteld M. Oud,
Dinu Antony,
Lonneke Duijkers,
Richard D. Emes ,
Jim Stalker,
Jan-Bart L. Yntema,
Vincent Plagnol ,
Alexander Hoischen ,
Christian Gilissen ,
Elisabeth Forsythe,
Ekkehart Lausch
and 19 other authors
Download from www.researchgate.net
,
Heleen H. Arts,
Ernie M. H. F. Bongers,
Zhimin Yap,
Machteld M. Oud,
Dinu Antony,
Lonneke Duijkers,
Richard D. Emes ,
Jim Stalker,
Jan-Bart L. Yntema,
Vincent Plagnol ,
Alexander Hoischen ,
Christian Gilissen ,
Elisabeth Forsythe,
Ekkehart Lausch
and 19 other authors
Download from www.researchgate.net
Alexandros Onoufriadis,
Tamara Paff,
Dinu Antony,
Amelia Shoemark,
Dimitra Micha,
Bertus Kuyt,
Miriam Schmidts ,
Stavroula Petridi,
Jeanette E. Dankert-Roelse,
Eric G. Haarman,
Johannes M. A. Daniels ,
Richard D. Emes ,
Robert Wilson,
Claire Hogg,
Peter J. Scambler
and 3 other authors
Download from doi.org
,
Stavroula Petridi,
Jeanette E. Dankert-Roelse,
Eric G. Haarman,
Johannes M. A. Daniels ,
Richard D. Emes ,
Robert Wilson,
Claire Hogg,
Peter J. Scambler
and 3 other authors
Download from doi.org
2012
Heike Olbrich,
Miriam Schmidts ,
Claudius Werner,
Alexandros Onoufriadis,
Niki T. Loges,
Johanna Raidt,
Nora Fanni Banki,
Amelia Shoemark,
Tom Burgoyne ,
Saeed Al Turki,
Saeed Al Turki,
Matthew E. Hurles,
Gabriele Köhler,
Josef Schroeder,
Gudrun Nürnberg
and 7 other authors
Download from doi.org
,
Claudius Werner,
Alexandros Onoufriadis,
Niki T. Loges,
Johanna Raidt,
Nora Fanni Banki,
Amelia Shoemark,
Tom Burgoyne ,
Saeed Al Turki,
Saeed Al Turki,
Matthew E. Hurles,
Gabriele Köhler,
Josef Schroeder,
Gudrun Nürnberg
and 7 other authors
Download from doi.org
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