Showing 1–16 of 16 results
-
Amendments and Corrections | | Open
-
Comments and Opinion |
-
-
-
Reviews | | Open
-
Reviews | | Open
-
Research |
-
Research |
-
Research |
-
Research |
-
-
Research |
-
Reviews |
-
-
Practical guidelines for managing adults with 22q11.2 deletion syndrome
- Wai Lun Alan Fung
- , Nancy J. Butcher
- , Gregory Costain
- , Danielle M. Andrade
- , Erik Boot
- , Eva W.C. Chow
- , Brian Chung
- , Cheryl Cytrynbaum
- , Hanna Faghfoury
- , Leona Fishman
- , Sixto García-Miñaúr
- , Susan George
- , Anthony E. Lang
- , Gabriela Repetto
- , Andrea Shugar
- , Candice Silversides
- , Ann Swillen
- , Therese van Amelsvoort
- , Donna M. McDonald-McGinn
- & Anne S. Bassett
-
Research |
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
- Andrea Legati
- , Donatella Giovannini
- , Gaël Nicolas
- , Uriel López-Sánchez
- , Beatriz Quintáns
- , João R M Oliveira
- , Renee L Sears
- , Eliana Marisa Ramos
- , Elizabeth Spiteri
- , María-Jesús Sobrido
- , Ángel Carracedo
- , Cristina Castro-Fernández
- , Stéphanie Cubizolle
- , Brent L Fogel
- , Cyril Goizet
- , Joanna C Jen
- , Suppachok Kirdlarp
- , Anthony E Lang
- , Zosia Miedzybrodzka
- , Witoon Mitarnun
- , Martin Paucar
- , Henry Paulson
- , Jérémie Pariente
- , Anne-Claire Richard
- , Naomi S Salins
- , Sheila A Simpson
- , Pasquale Striano
- , Per Svenningsson
- , François Tison
- , Vivek K Unni
- , Olivier Vanakker
- , Marja W Wessels
- , Suppachok Wetchaphanphesat
- , Michele Yang
- , Francois Boller
- , Dominique Campion
- , Didier Hannequin
- , Marc Sitbon
- , Daniel H Geschwind
- , Jean-Luc Battini
- & Giovanni Coppola
