Billon C,
Adham S,
Hernandez Poblete N,
Legrand A,
Frank M,
Chiche L,
Zuily S,
Benistan K,
Savale L,
Zaafrane-Khachnaoui K,
Brehin AC,
Bal L,
Busa T,
Fradin M,
Quelin C,
Chesneau B,
Wahl D,
Fergelot P,
Goizet C,
Mirault T,
Jeunemaitre X,
Albuisson J;
Bordeaux-cohort collaborators
Orphanet J Rare Dis
2021 Dec 4;16(1):504.
doi: 10.1186/s13023-021-02128-1.
PMID: 34863227Free PMC Article
Reinstein E,
Frentz S,
Morgan T,
García-Miñaúr S,
Leventer RJ,
McGillivray G,
Pariani M,
van der Steen A,
Pope M,
Holder-Espinasse M,
Scott R,
Thompson EM,
Robertson T,
Coppin B,
Siegel R,
Bret Zurita M,
Rodríguez JI,
Morales C,
Rodrigues Y,
Arcas J,
Saggar A,
Horton M,
Zackai E,
Graham JM,
Rimoin DL,
Robertson SP
Eur J Hum Genet
2013 May;21(5):494-502.
Epub 2012 Oct 3
doi: 10.1038/ejhg.2012.209.
PMID: 23032111Free PMC Article
Parrini E,
Ramazzotti A,
Dobyns WB,
Mei D,
Moro F,
Veggiotti P,
Marini C,
Brilstra EH,
Dalla Bernardina B,
Goodwin L,
Bodell A,
Jones MC,
Nangeroni M,
Palmeri S,
Said E,
Sander JW,
Striano P,
Takahashi Y,
Van Maldergem L,
Leonardi G,
Wright M,
Walsh CA,
Guerrini R
Brain
2006 Jul;129(Pt 7):1892-906.
Epub 2006 May 9
doi: 10.1093/brain/awl125.
PMID: 16684786
Gómez-Garre P,
Seijo M,
Gutiérrez-Delicado E,
Castro del Río M,
de la Torre C,
Gómez-Abad C,
Morales-Corraliza J,
Puig M,
Serratosa JM
J Med Genet
2006 Mar;43(3):232-7.
Epub 2005 Jul 1
doi: 10.1136/jmg.2004.029173.
PMID: 15994863Free PMC Article
Billon C,
Adham S,
Hernandez Poblete N,
Legrand A,
Frank M,
Chiche L,
Zuily S,
Benistan K,
Savale L,
Zaafrane-Khachnaoui K,
Brehin AC,
Bal L,
Busa T,
Fradin M,
Quelin C,
Chesneau B,
Wahl D,
Fergelot P,
Goizet C,
Mirault T,
Jeunemaitre X,
Albuisson J;
Bordeaux-cohort collaborators
Orphanet J Rare Dis
2021 Dec 4;16(1):504.
doi: 10.1186/s13023-021-02128-1.
PMID: 34863227Free PMC Article
Reinstein E,
Frentz S,
Morgan T,
García-Miñaúr S,
Leventer RJ,
McGillivray G,
Pariani M,
van der Steen A,
Pope M,
Holder-Espinasse M,
Scott R,
Thompson EM,
Robertson T,
Coppin B,
Siegel R,
Bret Zurita M,
Rodríguez JI,
Morales C,
Rodrigues Y,
Arcas J,
Saggar A,
Horton M,
Zackai E,
Graham JM,
Rimoin DL,
Robertson SP
Eur J Hum Genet
2013 May;21(5):494-502.
Epub 2012 Oct 3
doi: 10.1038/ejhg.2012.209.
PMID: 23032111Free PMC Article