Browsing by Author Houlden, Henry
Showing results 4 to 5 of 5
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| Issue Date | Title | Author(s) |
|---|---|---|
| 10-Nov-2020 | Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome | De Nittis, Pasquelena; Efthymiou. Sephanie; Sarre, Alexandre; Guex, Nicolas; Chrast, Jacqueline; Putoux, Audrey; Sultan, Tipu; Raza Alvi, Javeria; Ur Rahman, Zia; Zafar, Faisal; Rana, Nuzhat; Rahman, Fatima; Anwar, Najwa; Maqbool, Shazia; Zaki, Maha S.; Gleeson, Joseph G; Murphy, David; Galehdari, Hamid; Shariati, Gholamreza; Mazaheri, Neda; Sedaghat, Alireza; Lesca, Gaetan; Chatron, Nicolas; Salpietro, Vincenzo; Christoforou, Marilena; Houlden, Henry; Simonds, William F; Pedrazzini, Thierry; Maroofian, Reza; Reymond, Alexandre; Cormand Rifà, Bru; SYNAPS Study Group |
| 1-Jul-2019 | PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation | Chelban, Viorica; Wilson, Matthew P.; Chardon, Jodi Warman; Vandrovcova, Jana; Zanetti, M. Natalia; Zamba-Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R.; Abis, Giancarlo; Liu, Yo-Tsen; Tribollet, Eloise; Haridy, Nourelhoda A.; Botía, Juan A.; Ryten, Mina; Nicolaou, Paschalis; Minaidou, Anna; Christodoulou, Kyproula; Kernohan, Kristin D.; Eaton, Alison; Osmond, Matthew; Ito, Yoko; Bourque, Pierre; Jepson, James E.C.; Bello, Oscar; Bremner, Fion; Cordivari, Carla; Reilly, Mary M.; Foiani, Martha; Heslegrave, Amanda; Zetterberg, Henrik; Heales, Simon J.R.; Wood, Nicholas W.; Rothman, James E.; Boycott, Kym M.; Mills, Philippa B.; Clayton, Peter T.; Houlden, Henry; Care4Rare Canada Consortium; the SYNaPS Study Group. |