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Showing 1–4 of 4 results
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Research | | Open
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum
- Maleeha Maria
- , Ideke J. C. Lamers
- , Miriam Schmidts
- , Muhammad Ajmal
- , Sulman Jaffar
- , Ehsan Ullah
- , Bilal Mustafa
- , Shakeel Ahmad
- , Katia Nazmutdinova
- , Bethan Hoskins
- , Erwin van Wijk
- , Linda Koster-Kamphuis
- , Muhammad Imran Khan
- , Phil L. Beales
- , Frans P. M. Cremers
- , Ronald Roepman
- , Maleeha Azam
- , Heleen H. Arts
- & Raheel Qamar
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Research | | Open
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
- Karsten Boldt
- , Jeroen van Reeuwijk
- , Qianhao Lu
- , Konstantinos Koutroumpas
- , Thanh-Minh T. Nguyen
- , Yves Texier
- , Sylvia E. C. van Beersum
- , Nicola Horn
- , Jason R. Willer
- , Dorus A. Mans
- , Gerard Dougherty
- , Ideke J. C. Lamers
- , Karlien L. M. Coene
- , Heleen H. Arts
- , Matthew J. Betts
- , Tina Beyer
- , Emine Bolat
- , Christian Johannes Gloeckner
- , Khatera Haidari
- , Lisette Hetterschijt
- , Daniela Iaconis
- , Dagan Jenkins
- , Franziska Klose
- , Barbara Knapp
- , Brooke Latour
- , Stef J. F. Letteboer
- , Carlo L. Marcelis
- , Dragana Mitic
- , Manuela Morleo
- , Machteld M. Oud
- , Moniek Riemersma
- , Susan Rix
- , Paulien A. Terhal
- , Grischa Toedt
- , Teunis J. P. van Dam
- , Erik de Vrieze
- , Yasmin Wissinger
- , Ka Man Wu
- , Gordana Apic
- , Philip L. Beales
- , Oliver E. Blacque
- , Toby J. Gibson
- , Martijn A. Huynen
- , Nicholas Katsanis
- , Hannie Kremer
- , Heymut Omran
- , Erwin van Wijk
- , Uwe Wolfrum
- , François Kepes
- , Erica E. Davis
- , Brunella Franco
- , Rachel H. Giles
- , Marius Ueffing
- , Robert B. Russell
- , Ronald Roepman
- , Saeed Al-Turki
- , Carl Anderson
- , Dinu Antony
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Keren Carss
- , Krishna Chatterjee
- , Sebahattin Cirak
- , Catherine Cosgrove
- , Petr Danecek
- , Richard Durbin
- , David Fitzpatrick
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Steve E. Humphries
- , Matt Hurles
- , Chris Joyce
- , Shane McCarthy
- , Hannah M. Mitchison
- , Dawn Muddyman
- , Francesco Muntoni
- , Stephen O'Rahilly
- , Alexandros Onoufriadis
- , Felicity Payne
- , Vincent Plagnol
- , Lucy Raymond
- , David B. Savage
- , Peter Scambler
- , Miriam Schmidts
- , Nadia Schoenmakers
- , Robert Semple
- , Eva Serra
- , Jim Stalker
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Klaudia Walter
- , Ros Whittall
- & Kathy Williamson
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Research |
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
- Anneke I den Hollander
- , Robert K Koenekoop
- , Moin D Mohamed
- , Heleen H Arts
- , Karsten Boldt
- , Katherine V Towns
- , Tina Sedmak
- , Monika Beer
- , Kerstin Nagel-Wolfrum
- , Martin McKibbin
- , Sharola Dharmaraj
- , Irma Lopez
- , Lenka Ivings
- , Grange A Williams
- , Kelly Springell
- , C Geoff Woods
- , Hussain Jafri
- , Yasmin Rashid
- , Tim M Strom
- , Bert van der Zwaag
- , Ilse Gosens
- , Ferry F J Kersten
- , Erwin van Wijk
- , Joris A Veltman
- , Marijke N Zonneveld
- , Sylvia E C van Beersum
- , Irene H Maumenee
- , Uwe Wolfrum
- , Michael E Cheetham
- , Marius Ueffing
- , Frans P M Cremers
- , Chris F Inglehearn
- & Ronald Roepman
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Research |
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
- Heleen H Arts
- , Dan Doherty
- , Sylvia E C van Beersum
- , Melissa A Parisi
- , Stef J F Letteboer
- , Nicholas T Gorden
- , Theo A Peters
- , Tina Märker
- , Krysta Voesenek
- , Aileen Kartono
- , Hamit Ozyurek
- , Federico M Farin
- , Hester Y Kroes
- , Uwe Wolfrum
- , Han G Brunner
- , Frans P M Cremers
- , Ian A Glass
- , Nine V A M Knoers
- & Ronald Roepman
