Loading Filters
Showing 1–14 of 14 results
-
Comments and Opinion |
-
Research |
Whole-genome sequencing of patients with rare diseases in a national health system
- Ernest Turro
- , William J. Astle
- , Karyn Megy
- , Stefan Gräf
- , Daniel Greene
- , Olga Shamardina
- , Hana Lango Allen
- , Alba Sanchis-Juan
- , Mattia Frontini
- , Chantal Thys
- , Jonathan Stephens
- , Rutendo Mapeta
- , Oliver S. Burren
- , Kate Downes
- , Matthias Haimel
- , Salih Tuna
- , Sri V. V. Deevi
- , Timothy J. Aitman
- , David L. Bennett
- , Paul Calleja
- , Keren Carss
- , Mark J. Caulfield
- , Patrick F. Chinnery
- , Peter H. Dixon
- , Daniel P. Gale
- , Roger James
- , Ania Koziell
- , Michael A. Laffan
- , Adam P. Levine
- , Eamonn R. Maher
- , Hugh S. Markus
- , Joannella Morales
- , Nicholas W. Morrell
- , Andrew D. Mumford
- , Elizabeth Ormondroyd
- , Stuart Rankin
- , Augusto Rendon
- , Sylvia Richardson
- , Irene Roberts
- , Noemi B. A. Roy
- , Moin A. Saleem
- , Kenneth G. C. Smith
- , Hannah Stark
- , Rhea Y. Y. Tan
- , Andreas C. Themistocleous
- , Adrian J. Thrasher
- , Hugh Watkins
- , Andrew R. Webster
- , Martin R. Wilkins
- , Catherine Williamson
- , James Whitworth
- , Sean Humphray
- , David R. Bentley
- , Stephen Abbs
- , Lara Abulhoul
- , Julian Adlard
- , Munaza Ahmed
- , Timothy J. Aitman
- , Hana Alachkar
- , David J. Allsup
- , Jeff Almeida-King
- , Philip Ancliff
- , Richard Antrobus
- , Ruth Armstrong
- , Gavin Arno
- , Sofie Ashford
- , William J. Astle
- , Anthony Attwood
- , Paul Aurora
- , Christian Babbs
- , Chiara Bacchelli
- , Tamam Bakchoul
- , Siddharth Banka
- , Tadbir Bariana
- , Julian Barwell
- , Joana Batista
- , Helen E. Baxendale
- , Phil L. Beales
- , David L. Bennett
- , David R. Bentley
- , Agnieszka Bierzynska
- , Tina Biss
- , Maria A. K. Bitner-Glindzicz
- , Graeme C. Black
- , Marta Bleda
- , Iulia Blesneac
- , Detlef Bockenhauer
- , Harm Bogaard
- , Christian J. Bourne
- , Sara Boyce
- , John R. Bradley
- , Eugene Bragin
- , Gerome Breen
- , Paul Brennan
- , Carole Brewer
- , Matthew Brown
- , Andrew C. Browning
- , Michael J. Browning
- , Rachel J. Buchan
- , Matthew S. Buckland
- , Teofila Bueser
- , Carmen Bugarin Diz
- , John Burn
- , Siobhan O. Burns
- , Oliver S. Burren
- , Nigel Burrows
- , Paul Calleja
- , Carolyn Campbell
- , Gerald Carr-White
- , Keren Carss
- , Ruth Casey
- , Mark J. Caulfield
- , Jenny Chambers
- , John Chambers
- , Melanie M. Y. Chan
- , Calvin Cheah
- , Floria Cheng
- , Patrick F. Chinnery
- , Manali Chitre
- , Martin T. Christian
- , Colin Church
- , Jill Clayton-Smith
- , Maureen Cleary
- , Naomi Clements Brod
- , Gerry Coghlan
- , Elizabeth Colby
- , Trevor R. P. Cole
- , Janine Collins
- , Peter W. Collins
- , Camilla Colombo
- , Cecilia J. Compton
- , Robin Condliffe
- , Stuart Cook
- , H. Terence Cook
- , Nichola Cooper
- , Paul A. Corris
- , Abigail Furnell
- , Fiona Cunningham
- , Nicola S. Curry
- , Antony J. Cutler
- , Matthew J. Daniels
- , Mehul Dattani
- , Louise C. Daugherty
- , John Davis
- , Anthony De Soyza
- , Sri V. V. Deevi
- , Timothy Dent
- , Charu Deshpande
- , Eleanor F. Dewhurst
- , Peter H. Dixon
- , Sofia Douzgou
- , Kate Downes
- , Anna M. Drazyk
- , Elizabeth Drewe
- , Daniel Duarte
- , Tina Dutt
- , J. David M. Edgar
- , Karen Edwards
- , William Egner
- , Melanie N. Ekani
- , Perry Elliott
- , Wendy N. Erber
- , Marie Erwood
- , Maria C. Estiu
- , Dafydd Gareth Evans
- , Gillian Evans
- , Tamara Everington
- , Mélanie Eyries
- , Hiva Fassihi
- , Remi Favier
- , Jack Findhammer
- , Debra Fletcher
- , Frances A. Flinter
- , R. Andres Floto
- , Tom Fowler
- , James Fox
- , Amy J. Frary
- , Courtney E. French
- , Kathleen Freson
- , Mattia Frontini
- , Daniel P. Gale
- , Henning Gall
- , Vijeya Ganesan
- , Michael Gattens
- , Claire Geoghegan
- , Terence S. A. Gerighty
- , Ali G. Gharavi
- , Stefano Ghio
- , Hossein-Ardeschir Ghofrani
- , J. Simon R. Gibbs
- , Kate Gibson
- , Kimberly C. Gilmour
- , Barbara Girerd
- , Nicholas S. Gleadall
- , Sarah Goddard
- , David B. Goldstein
- , Keith Gomez
- , Pavels Gordins
- , David Gosal
- , Stefan Gräf
- , Jodie Graham
- , Luigi Grassi
- , Daniel Greene
- , Lynn Greenhalgh
- , Andreas Greinacher
- , Paolo Gresele
- , Philip Griffiths
- , Sofia Grigoriadou
- , Russell J. Grocock
- , Detelina Grozeva
- , Mark Gurnell
- , Scott Hackett
- , Charaka Hadinnapola
- , William M. Hague
- , Rosie Hague
- , Matthias Haimel
- , Matthew Hall
- , Helen L. Hanson
- , Eshika Haque
- , Kirsty Harkness
- , Andrew R. Harper
- , Claire L. Harris
- , Daniel Hart
- , Ahamad Hassan
- , Grant Hayman
- , Alex Henderson
- , Archana Herwadkar
- , Jonathan Hoffman
- , Simon Holden
- , Rita Horvath
- , Henry Houlden
- , Arjan C. Houweling
- , Luke S. Howard
- , Fengyuan Hu
- , Gavin Hudson
- , Joseph Hughes
- , Aarnoud P. Huissoon
- , Marc Humbert
- , Sean Humphray
- , Sarah Hunter
- , Matthew Hurles
- , Melita Irving
- , Louise Izatt
- , Roger James
- , Sally A. Johnson
- , Stephen Jolles
- , Jennifer Jolley
- , Dragana Josifova
- , Neringa Jurkute
- , Tim Karten
- , Johannes Karten
- , Mary A. Kasanicki
- , Hanadi Kazkaz
- , Rashid Kazmi
- , Peter Kelleher
- , Anne M. Kelly
- , Wilf Kelsall
- , Carly Kempster
- , David G. Kiely
- , Nathalie Kingston
- , Robert Klima
- , Nils Koelling
- , Myrto Kostadima
- , Gabor Kovacs
- , Ania Koziell
- , Roman Kreuzhuber
- , Taco W. Kuijpers
- , Ajith Kumar
- , Dinakantha Kumararatne
- , Manju A. Kurian
- , Michael A. Laffan
- , Fiona Lalloo
- , Michele Lambert
- , Hana Lango Allen
- , Allan Lawrie
- , D. Mark Layton
- , Nick Lench
- , Claire Lentaigne
- , Tracy Lester
- , Adam P. Levine
- , Rachel Linger
- , Hilary Longhurst
- , Lorena E. Lorenzo
- , Eleni Louka
- , Paul A. Lyons
- , Rajiv D. Machado
- , Robert V. MacKenzie Ross
- , Bella Madan
- , Eamonn R. Maher
- , Jesmeen Maimaris
- , Samantha Malka
- , Sarah Mangles
- , Rutendo Mapeta
- , Kevin J. Marchbank
- , Stephen Marks
- , Hugh S. Markus
- , Hanns-Ulrich Marschall
- , Andrew Marshall
- , Jennifer Martin
- , Mary Mathias
- , Emma Matthews
- , Heather Maxwell
- , Paul McAlinden
- , Mark I. McCarthy
- , Harriet McKinney
- , Aoife McMahon
- , Stuart Meacham
- , Adam J. Mead
- , Ignacio Medina Castello
- , Karyn Megy
- , Sarju G. Mehta
- , Michel Michaelides
- , Carolyn Millar
- , Shehla N. Mohammed
- , Shahin Moledina
- , David Montani
- , Anthony T. Moore
- , Joannella Morales
- , Nicholas W. Morrell
- , Monika Mozere
- , Keith W. Muir
- , Andrew D. Mumford
- , Andrea H. Nemeth
- , William G. Newman
- , Michael Newnham
- , Sadia Noorani
- , Paquita Nurden
- , Jennifer O’Sullivan
- , Samya Obaji
- , Chris Odhams
- , Steven Okoli
- , Andrea Olschewski
- , Horst Olschewski
- , Kai Ren Ong
- , S. Helen Oram
- , Elizabeth Ormondroyd
- , Willem H. Ouwehand
- , Claire Palles
- , Sofia Papadia
- , Soo-Mi Park
- , David Parry
- , Smita Patel
- , Joan Paterson
- , Andrew Peacock
- , Simon H. Pearce
- , John Peden
- , Kathelijne Peerlinck
- , Christopher J. Penkett
- , Joanna Pepke-Zaba
- , Romina Petersen
- , Clarissa Pilkington
- , Kenneth E. S. Poole
- , Radhika Prathalingam
- , Bethan Psaila
- , Angela Pyle
- , Richard Quinton
- , Shamima Rahman
- , Stuart Rankin
- , Anupama Rao
- , F. Lucy Raymond
- , Paula J. Rayner-Matthews
- , Christine Rees
- , Augusto Rendon
- , Tara Renton
- , Christopher J. Rhodes
- , Andrew S. C. Rice
- , Sylvia Richardson
- , Alex Richter
- , Leema Robert
- , Irene Roberts
- , Anthony Rogers
- , Sarah J. Rose
- , Robert Ross-Russell
- , Catherine Roughley
- , Noemi B. A. Roy
- , Deborah M. Ruddy
- , Omid Sadeghi-Alavijeh
- , Moin A. Saleem
- , Nilesh Samani
- , Crina Samarghitean
- , Alba Sanchis-Juan
- , Ravishankar B. Sargur
- , Robert N. Sarkany
- , Simon Satchell
- , Sinisa Savic
- , John A. Sayer
- , Genevieve Sayer
- , Laura Scelsi
- , Andrew M. Schaefer
- , Sol Schulman
- , Richard Scott
- , Marie Scully
- , Claire Searle
- , Werner Seeger
- , Arjune Sen
- , W. A. Carrock Sewell
- , Denis Seyres
- , Neil Shah
- , Olga Shamardina
- , Susan E. Shapiro
- , Adam C. Shaw
- , Patrick J. Short
- , Keith Sibson
- , Lucy Side
- , Ilenia Simeoni
- , Michael A. Simpson
- , Matthew C. Sims
- , Suthesh Sivapalaratnam
- , Damian Smedley
- , Katherine R. Smith
- , Kenneth G. C. Smith
- , Katie Snape
- , Nicole Soranzo
- , Florent Soubrier
- , Laura Southgate
- , Olivera Spasic-Boskovic
- , Simon Staines
- , Emily Staples
- , Hannah Stark
- , Jonathan Stephens
- , Charles Steward
- , Kathleen E. Stirrups
- , Alex Stuckey
- , Jay Suntharalingam
- , Emilia M. Swietlik
- , Petros Syrris
- , R. Campbell Tait
- , Kate Talks
- , Rhea Y. Y. Tan
- , Katie Tate
- , John M. Taylor
- , Jenny C. Taylor
- , James E. Thaventhiran
- , Andreas C. Themistocleous
- , Ellen Thomas
- , David Thomas
- , Moira J. Thomas
- , Patrick Thomas
- , Kate Thomson
- , Adrian J. Thrasher
- , Glen Threadgold
- , Chantal Thys
- , Tobias Tilly
- , Marc Tischkowitz
- , Catherine Titterton
- , John A. Todd
- , Cheng-Hock Toh
- , Bas Tolhuis
- , Ian P. Tomlinson
- , Mark Toshner
- , Matthew Traylor
- , Carmen Treacy
- , Paul Treadaway
- , Richard Trembath
- , Salih Tuna
- , Wojciech Turek
- , Ernest Turro
- , Philip Twiss
- , Tom Vale
- , Chris Van Geet
- , Natalie van Zuydam
- , Maarten Vandekuilen
- , Anthony M. Vandersteen
- , Marta Vazquez-Lopez
- , Julie von Ziegenweidt
- , Anton Vonk Noordegraaf
- , Annette Wagner
- , Quinten Waisfisz
- , Suellen M. Walker
- , Neil Walker
- , Klaudia Walter
- , James S. Ware
- , Hugh Watkins
- , Christopher Watt
- , Andrew R. Webster
- , Lucy Wedderburn
- , Wei Wei
- , Steven B. Welch
- , Julie Wessels
- , Sarah K. Westbury
- , John-Paul Westwood
- , John Wharton
- , Deborah Whitehorn
- , James Whitworth
- , Andrew O. M. Wilkie
- , Martin R. Wilkins
- , Catherine Williamson
- , Brian T. Wilson
- , Edwin K. S. Wong
- , Nicholas Wood
- , Yvette Wood
- , Christopher Geoffrey Woods
- , Emma R. Woodward
- , Stephen J. Wort
- , Austen Worth
- , Michael Wright
- , Katherine Yates
- , Patrick F. K. Yong
- , Timothy Young
- , Ping Yu
- , Patrick Yu-Wai-Man
- , Eliska Zlamalova
- , Nathalie Kingston
- , Neil Walker
- , John R. Bradley
- , Sofie Ashford
- , Christopher J. Penkett
- , Kathleen Freson
- , Kathleen E. Stirrups
- , F. Lucy Raymond
- & Willem H. Ouwehand
-
Research | | Open
-
-
Research | | Open
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
- Jingyuan Xie
- , Lili Liu
- , Nikol Mladkova
- , Yifu Li
- , Hong Ren
- , Weiming Wang
- , Zhao Cui
- , Li Lin
- , Xiaofan Hu
- , Xialian Yu
- , Jing Xu
- , Gang Liu
- , Yasar Caliskan
- , Carlo Sidore
- , Olivia Balderes
- , Raphael J. Rosen
- , Monica Bodria
- , Francesca Zanoni
- , Jun Y. Zhang
- , Priya Krithivasan
- , Karla Mehl
- , Maddalena Marasa
- , Atlas Khan
- , Fatih Ozay
- , Pietro A. Canetta
- , Andrew S. Bomback
- , Gerald B. Appel
- , Simone Sanna-Cherchi
- , Matthew G. Sampson
- , Laura H. Mariani
- , Agnieszka Perkowska-Ptasinska
- , Magdalena Durlik
- , Krzysztof Mucha
- , Barbara Moszczuk
- , Bartosz Foroncewicz
- , Leszek Pączek
- , Ireneusz Habura
- , Elisabet Ars
- , Jose Ballarin
- , Laila-Yasmin Mani
- , Bruno Vogt
- , Savas Ozturk
- , Abdülmecit Yildiz
- , Nurhan Seyahi
- , Hakki Arikan
- , Mehmet Koc
- , Taner Basturk
- , Gonca Karahan
- , Sebahat Usta Akgul
- , Mehmet Sukru Sever
- , Dan Zhang
- , Domenico Santoro
- , Mario Bonomini
- , Francesco Londrino
- , Loreto Gesualdo
- , Jana Reiterova
- , Vladimir Tesar
- , Claudia Izzi
- , Silvana Savoldi
- , Donatella Spotti
- , Carmelita Marcantoni
- , Piergiorgio Messa
- , Marco Galliani
- , Dario Roccatello
- , Simona Granata
- , Gianluigi Zaza
- , Francesca Lugani
- , GianMarco Ghiggeri
- , Isabella Pisani
- , Landino Allegri
- , Ben Sprangers
- , Jin-Ho Park
- , BeLong Cho
- , Yon Su Kim
- , Dong Ki Kim
- , Hitoshi Suzuki
- , Antonio Amoroso
- , Daniel C. Cattran
- , Fernando C. Fervenza
- , Antonello Pani
- , Patrick Hamilton
- , Shelly Harris
- , Sanjana Gupta
- , Chris Cheshire
- , Stephanie Dufek
- , Naomi Issler
- , Ruth J. Pepper
- , John Connolly
- , Stephen Powis
- , Detlef Bockenhauer
- , Horia C. Stanescu
- , Neil Ashman
- , Ruth J. F. Loos
- , Eimear E. Kenny
- , Matthias Wuttke
- , Kai-Uwe Eckardt
- , Anna Köttgen
- , Julia M. Hofstra
- , Marieke J. H. Coenen
- , Lambertus A. Kiemeney
- , Shreeram Akilesh
- , Matthias Kretzler
- , Lawrence H. Beck
- , Benedicte Stengel
- , Hanna Debiec
- , Pierre Ronco
- , Jack F. M. Wetzels
- , Magdalena Zoledziewska
- , Francesco Cucca
- , Iuliana Ionita-Laza
- , Hajeong Lee
- , Elion Hoxha
- , Rolf A. K. Stahl
- , Paul Brenchley
- , Francesco Scolari
- , Ming-hui Zhao
- , Ali G. Gharavi
- , Robert Kleta
- , Nan Chen
- & Krzysztof Kiryluk
-
Research |
-
Research |
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
- Robert Kleta
- , Elisa Romeo
- , Zorica Ristic
- , Toshihiro Ohura
- , Caroline Stuart
- , Mauricio Arcos-Burgos
- , Mital H Dave
- , Carsten A Wagner
- , Simone R M Camargo
- , Sumiko Inoue
- , Norio Matsuura
- , Amanda Helip-Wooley
- , Detlef Bockenhauer
- , Richard Warth
- , Isa Bernardini
- , Gepke Visser
- , Thomas Eggermann
- , Philip Lee
- , Arthit Chairoungdua
- , Promsuk Jutabha
- , Ellappan Babu
- , Sirinun Nilwarangkoon
- , Naohiko Anzai
- , Yoshikatsu Kanai
- , Francois Verrey
- , William A Gahl
- & Akio Koizumi
-
Reviews | | Open
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people
- Charlotte Gimpel
- , Carsten Bergmann
- , Detlef Bockenhauer
- , Luc Breysem
- , Melissa A. Cadnapaphornchai
- , Metin Cetiner
- , Jan Dudley
- , Francesco Emma
- , Martin Konrad
- , Tess Harris
- , Peter C. Harris
- , Jens König
- , Max C. Liebau
- , Matko Marlais
- , Djalila Mekahli
- , Alison M. Metcalfe
- , Jun Oh
- , Ronald D. Perrone
- , Manish D. Sinha
- , Andrea Titieni
- , Roser Torra
- , Stefanie Weber
- , Paul J. D. Winyard
- & Franz Schaefer
-
Reviews | | Open
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
- Dieter Haffner
- , Francesco Emma
- , Deborah M. Eastwood
- , Martin Biosse Duplan
- , Justine Bacchetta
- , Dirk Schnabel
- , Philippe Wicart
- , Detlef Bockenhauer
- , Fernando Santos
- , Elena Levtchenko
- , Pol Harvengt
- , Martha Kirchhoff
- , Federico Di Rocco
- , Catherine Chaussain
- , Maria Louisa Brandi
- , Lars Savendahl
- , Karine Briot
- , Peter Kamenicky
- , Lars Rejnmark
- & Agnès Linglart
-
Research |
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons
- Xavier Caubit
- , Paolo Gubellini
- , Joris Andrieux
- , Pierre L Roubertoux
- , Mehdi Metwaly
- , Bernard Jacq
- , Ahmed Fatmi
- , Laurence Had-Aissouni
- , Kenneth Y Kwan
- , Pascal Salin
- , Michèle Carlier
- , Agne Liedén
- , Eva Rudd
- , Marwan Shinawi
- , Catherine Vincent-Delorme
- , Jean-Marie Cuisset
- , Marie-Pierre Lemaitre
- , Fatimetou Abderrehamane
- , Bénédicte Duban
- , Jean-François Lemaitre
- , Adrian S Woolf
- , Detlef Bockenhauer
- , Dany Severac
- , Emeric Dubois
- , Ying Zhu
- , Nenad Sestan
- , Alistair N Garratt
- , Lydia Kerkerian-Le Goff
- & Laurent Fasano
-
Reviews |
-
Research |
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
- Sylvia Hoff
- , Jan Halbritter
- , Daniel Epting
- , Valeska Frank
- , Thanh-Minh T Nguyen
- , Jeroen van Reeuwijk
- , Christopher Boehlke
- , Christoph Schell
- , Takayuki Yasunaga
- , Martin Helmstädter
- , Miriam Mergen
- , Emilie Filhol
- , Karsten Boldt
- , Nicola Horn
- , Marius Ueffing
- , Edgar A Otto
- , Tobias Eisenberger
- , Mariet W Elting
- , Joanna A E van Wijk
- , Detlef Bockenhauer
- , Neil J Sebire
- , Søren Rittig
- , Mogens Vyberg
- , Troels Ring
- , Martin Pohl
- , Lars Pape
- , Thomas J Neuhaus
- , Neveen A Soliman Elshakhs
- , Sarah J Koon
- , Peter C Harris
- , Florian Grahammer
- , Tobias B Huber
- , E Wolfgang Kuehn
- , Albrecht Kramer-Zucker
- , Hanno J Bolz
- , Ronald Roepman
- , Sophie Saunier
- , Gerd Walz
- , Friedhelm Hildebrandt
- , Carsten Bergmann
- & Soeren S Lienkamp
-
Reviews |
-
Research |
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
- Lynn M. Boyden
- , Murim Choi
- , Keith A. Choate
- , Carol J. Nelson-Williams
- , Anita Farhi
- , Hakan R. Toka
- , Irina R. Tikhonova
- , Robert Bjornson
- , Shrikant M. Mane
- , Giacomo Colussi
- , Marcel Lebel
- , Richard D. Gordon
- , Ben A. Semmekrot
- , Alain Poujol
- , Matti J. Välimäki
- , Maria E. De Ferrari
- , Sami A. Sanjad
- , Michael Gutkin
- , Fiona E. Karet
- , Joseph R. Tucci
- , Jim R. Stockigt
- , Kim M. Keppler-Noreuil
- , Craig C. Porter
- , Sudhir K. Anand
- , Margo L. Whiteford
- , Ira D. Davis
- , Stephanie B. Dewar
- , Alberto Bettinelli
- , Jeffrey J. Fadrowski
- , Craig W. Belsha
- , Tracy E. Hunley
- , Raoul D. Nelson
- , Howard Trachtman
- , Trevor R. P. Cole
- , Maury Pinsk
- , Detlef Bockenhauer
- , Mohan Shenoy
- , Priya Vaidyanathan
- , John W. Foreman
- , Majid Rasoulpour
- , Farook Thameem
- , Hania Z. Al-Shahrouri
- , Jai Radhakrishnan
- , Ali G. Gharavi
- , Beatrice Goilav
- & Richard P. Lifton
