Showing 1–5 of 5 results
-
Amendments and Corrections |
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
- Magdalena Koczkowska
- , Tom Callens
- , Alicia Gomes
- , Angela Sharp
- , Yunjia Chen
- , Alesha D. Hicks
- , Arthur S. Aylsworth
- , Amedeo A. Azizi
- , Donald G. Basel
- , Gary Bellus
- , Lynne M. Bird
- , Maria A. Blazo
- , Leah W. Burke
- , Ashley Cannon
- , Felicity Collins
- , Colette DeFilippo
- , Ellen Denayer
- , Maria C. Digilio
- , Shelley K. Dills
- , Laura Dosa
- , Robert S. Greenwood
- , Cristin Griffis
- , Punita Gupta
- , Rachel K. Hachen
- , Concepción Hernández-Chico
- , Sandra Janssens
- , Kristi J. Jones
- , Justin T. Jordan
- , Peter Kannu
- , Bruce R. Korf
- , Andrea M. Lewis
- , Robert H. Listernick
- , Fortunato Lonardo
- , Maurice J. Mahoney
- , Mayra Martinez Ojeda
- , Marie T. McDonald
- , Carey McDougall
- , Nancy Mendelsohn
- , David T. Miller
- , Mari Mori
- , Rianne Oostenbrink
- , Sebastién Perreault
- , Mary Ella Pierpont
- , Carmelo Piscopo
- , Dinel A. Pond
- , Linda M. Randolph
- , Katherine A. Rauen
- , Surya Rednam
- , S. Lane Rutledge
- , Veronica Saletti
- , G. Bradley Schaefer
- , Elizabeth K. Schorry
- , Daryl A. Scott
- , Andrea Shugar
- , Elizabeth Siqveland
- , Lois J. Starr
- , Ashraf Syed
- , Pamela L. Trapane
- , Nicole J. Ullrich
- , Emily G. Wakefield
- , Laurence E. Walsh
- , Michael F. Wangler
- , Elaine Zackai
- , Kathleen B. M. Claes
- , Katharina Wimmer
- , Rick van Minkelen
- , Alessandro De Luca
- , Yolanda Martin
- , Eric Legius
- & Ludwine M. Messiaen
-
Research |
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
- Eric Lee
- , Trang Le
- , Ying Zhu
- , George Elakis
- , Anne Turner
- , William Lo
- , Hanka Venselaar
- , Carol-Ann Verrenkamp
- , Nicole Snow
- , David Mowat
- , Edwin Philip Kirk
- , Rani Sachdev
- , Janine Smith
- , Natasha Jane Brown
- , Mathew Wallis
- , Chris Barnett
- , Fiona McKenzie
- , Mary-Louise Freckmann
- , Felicity Collins
- , Maya Chopra
- , Nerine Gregersen
- , Ian Hayes
- , Sulekha Rajagopalan
- , Tiong Yang Tan
- , Zornitza Stark
- , Ravi Savarirayan
- , Alison Yeung
- , Lesley Adès
- , Michael Gattas
- , Kate Gibson
- , Michael Gabbett
- , David John Amor
- , Wanda Lattanzi
- , Simeon Boyd
- , Eric Haan
- , Mark Gianoutsos
- , Timothy Chilton Cox
- , Michael Francis Buckley
- & Tony Roscioli
-
Research |
Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours
- Elizabeth A. Rapley
- , Gillian P. Crockford
- , Dawn Teare
- , Patrick Biggs
- , Sheila Seal
- , Rita Barfoot
- , Sandra Edwards
- , Rifat Hamoudi
- , Ketil Heimdal
- , Sophie D. Fosså
- , Kathy Tucker
- , Jenny Donald
- , Felicity Collins
- , Michael Friedlander
- , David Hogg
- , Paul Goss
- , Axel Heidenreich
- , Wilma Ormiston
- , Peter A. Daly
- , David Forman
- , Timothy D. Oliver
- , Michael Leahy
- , Robert Huddart
- , Colin S. Cooper
- , Julia G. Bodmer
- , Douglas F. Easton
- , Michael R. Stratton
- & D. Timothy Bishop
-
Research |
-
Research | | Open
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
- Magdalena Koczkowska
- , Tom Callens
- , Alicia Gomes
- , Angela Sharp
- , Yunjia Chen
- , Alesha D. Hicks
- , Arthur S. Aylsworth
- , Amedeo A. Azizi
- , Donald G. Basel
- , Gary Bellus
- , Lynne M. Bird
- , Maria A. Blazo
- , Leah W. Burke
- , Ashley Cannon
- , Felicity Collins
- , Colette DeFilippo
- , Ellen Denayer
- , Maria C. Digilio
- , Shelley K. Dills
- , Laura Dosa
- , Robert S. Greenwood
- , Cristin Griffis
- , Punita Gupta
- , Rachel K. Hachen
- , Concepción Hernández-Chico
- , Sandra Janssens
- , Kristi J. Jones
- , Justin T. Jordan
- , Peter Kannu
- , Bruce R. Korf
- , Andrea M. Lewis
- , Robert H. Listernick
- , Fortunato Lonardo
- , Maurice J. Mahoney
- , Mayra Martinez Ojeda
- , Marie T. McDonald
- , Carey McDougall
- , Nancy Mendelsohn
- , David T. Miller
- , Mari Mori
- , Rianne Oostenbrink
- , Sebastién Perreault
- , Mary Ella Pierpont
- , Carmelo Piscopo
- , Dinel A. Pond
- , Linda M. Randolph
- , Katherine A. Rauen
- , Surya Rednam
- , S. Lane Rutledge
- , Veronica Saletti
- , G. Bradley Schaefer
- , Elizabeth K. Schorry
- , Daryl A. Scott
- , Andrea Shugar
- , Elizabeth Siqveland
- , Lois J. Starr
- , Ashraf Syed
- , Pamela L. Trapane
- , Nicole J. Ullrich
- , Emily G. Wakefield
- , Laurence E. Walsh
- , Michael F. Wangler
- , Elaine Zackai
- , Kathleen B. M. Claes
- , Katharina Wimmer
- , Rick van Minkelen
- , Alessandro De Luca
- , Yolanda Martin
- , Eric Legius
- & Ludwine M. Messiaen