Biblio

7 resultats trouvés
Filtres: Auteur is Martin, Dominique  [Clear All Filters]
A
Tabet A-C, Rolland T, Ducloy M, Levy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S et al..  2019.  A framework to identify contributing genes in patients with Phelan-McDermid syndrome (vol 2, 32, 2017). NPJ GENOMIC MEDICINE. 4:16.
Tabet A-C, Rolland T, Ducloy M, Levy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S et al..  2017.  A framework to identify contributing genes in patients with Phelan-McDermid syndrome. NPJ GENOMIC MEDICINE. 2
F
Poirseir C, Besseau-Ayasse J, Bazin A, Amblard F, Deblois M-C, Bresson J-L, Busa T, Missirian C, Cartault F, Catty M et al..  2015.  French collaborative survey of 749 patients with 22q11 deletion. CHROMOSOME RESEARCH. 23:S63.
Poirseir C, Besseau-Ayasse J, Bazin A, Amblard F, Deblois M-C, Bresson J-L, Busa T, Missirian C, Cartault F, Catty M et al..  2015.  French collaborative survey of 749 patients with 22q11 deletion. CHROMOSOME RESEARCH. 23:S63.
I
Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau J-C, Arpin S, Brischoux-Boucher E, Boute O, Burglen L et al..  2020.  Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals. GENETICS IN MEDICINE. 22:181-188.
P
Juven A, Nambot S, Piton A, Jean-Marcais N, Masurel A, Callier P, Marle N, Mosca-Boidron A-L, Kuentz P, Philippe C et al..  2020.  Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20. EUROPEAN JOURNAL OF HUMAN GENETICS. 28:1044-1055.
T
Bertrand B, Honeyman CSinclair, Emparanza A, McGurk M, Hamady IElh Ousman, Schmidt A, Sinna R, Pittet-Cuenod B, Zwetyenga N, Martin D.  2019.  Twenty-Five Years of Experience with the Submental Flap in Facial Reconstruction: Evolution and Technical Refinements following 311 Cases in Europe and Africa. PLASTIC AND RECONSTRUCTIVE SURGERY. 143:1747-1758.