Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Patrick Callier"'
Autor:
Stylianos E. Antonarakis, Christel Thauvin-Robinet, Marilyn D. Resh, Laurence Faivre, Sandy Lambert, Isabelle Stévant, Christèle Desdoits-Lethimonier, Hiroshi Kurosaka, Paul A. Trainor, Federico Santoni, Christelle Borel, Bernard Jégou, Armine Matevossian, Antoine Rolland, Serge Nef, Frédéric Huet, Pierre Calvel, Françoise Kühne, Jadwiga Jaruzelska, Béatrice Conne, Patrick Callier, Séverine Mazaud-Guittot, Periklis Makrythanasis, Pascal Bernard, Céline Zimmermann, Michel Guipponi, Anne Vannier, Dagmar Wilhelm, Francine Mugneret
Publikováno v:
PLoS Genet, vol. 10, no. 5, pp. e1004340
PLoS Genetics
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
PLOS Genetics, Vol. 10, No 5 (2014) P. e1004340
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. 〈10.1371/journal.pgen.1004340〉
PLoS Genetics, Vol 10, Iss 5, p e1004340 (2014)
PLoS Genetics, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
PLoS Genetics
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
PLOS Genetics, Vol. 10, No 5 (2014) P. e1004340
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. 〈10.1371/journal.pgen.1004340〉
PLoS Genetics, Vol 10, Iss 5, p e1004340 (2014)
PLoS Genetics, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multime
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fd6b266f4ab586b836727c4f09cfaa
https://serval.unil.ch/resource/serval:BIB_359C54BAB25D.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_359C54BAB25D.P001/REF.pdf
Autor:
Anne H. Child, Christophe Béroud, Catherine Boileau, Jaime Sanchez del Pozo, Julie De Backer, Cyril Goizet, Jeanne Amiel, Lesley C. Adès, Pierre Vabres, Anne De Paepe, Julien Thevenon, Laurence Duplomb, Katherine Holman, Christel Thauvin-Robinet, Clarisse Baumann, Frédéric Huet, Ghislaine Plessis, Gwenaëlle Collod-Béroud, Bert Callewaert, Eloisa Arbustini, Henri Plauchu, Bernard Aral, Peter N. Robinson, Sophie Julia, Jean Baptiste Rivière, Valérie Cormier-Daire, Gavin Arno, Nadège Gigot, Marjolijn Renard, Lucie Gueneau, Guillaume Jondeau, Patrick Callier, Jean Benoît Courcet, Maja Di Rocco, Laurence Faivre, Virginie Carmignac, Estelle Lopez, Maurizia Grasso
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. 〈10.1016/j.ajhg.2012.10.002〉
American Journal of Human Genetics, 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. 〈10.1016/j.ajhg.2012.10.002〉
American Journal of Human Genetics, 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
International audience; Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4240c41e9ce258a7c24b5f040116e571
https://hal.archives-ouvertes.fr/hal-01670135/document
https://hal.archives-ouvertes.fr/hal-01670135/document