Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2 von Rajab, Anna, van Bokhoven, Hans, Foulquier, Francois, Gruenewald, Stephanie, Lefeber, Dirk, Van Maldergem, Lionel, Morava, Eva, Reynders, Ellen, Urban, Zsolt, Wevers, Ron, Mundlos, Stefan, Annaert, Wim, Nürnberg, Peter, Kornak, Uwe, Dimopoulou, Aikaterini, van Reeuwijk, Jeroen, Fischer, Bjoern, Budde, Birgit, Brunner, Han G, Matthijs, Gert

Volltext

A Novel Missense Mutation, A118E, in the Helix Initiation Motif of the Type II Hair Cortex Keratin hHb6, Causing Monilethrix von Winter, Hermelita, Vabres, Pierre, Larrègue, Marc, Rogers, Michael A., Schweizer, Jürgen

Volltext

Repeated skin expansion for excision of congenital giant nevi in infancy and childhood von VERGNES, P, TAIEB, A, MALEVILLE, J, LARREGUE, M, BONDONNY, J. M

Volltext

Bi-acromial Dimples: A Series of Seven Cases von Beillard, Charlotte, Guillet, Gérard, Vabres, Pierre, Dagregorio, Guy, Larregue, Marc

Volltext

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H super(+)-ATPase subunit ATP6V0A2 von Kornak, Uwe, Reynders, Ellen, Dimopoulou, Aikaterini, Van Reeuwijk, Jeroen, Fischer, Bjoern, Rajab, Anna, Budde, Birgit, Nuernberg, Peter, Foulquier, Francois, Lefeber, Dirk, Urban, Zsolt, Gruenewald, Stephanie, Annaert, Wim, Brunner, Han G, Van Bokhoven, Hans, Wevers, Ron, Morava, Eva, Matthijs, Gert, Van Maldergem, Lionel, Mundlos, Stefan

Volltext

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6VOA2 von KORNAK, Uwe, REYNDERS, Ellen, URBAN, Zsolt, GRUENEWALD, Stephanie, ANNAERT, Wim, BRUNNER, Han G, VAN BOKHOVEN, Hans, WEVERS, Ron, MORAVA, Eva, MATTHIJS, Gert, VAN MALDERGEM, Lionel, MUNDLOS, Stefan, DIMOPOULOU, Aikaterini, DOBYNS, William B, QUELHAS, Dulce, VILARINHO, Laura, LEAO-TELES, Elisa, GREALLY, Marie, SEEMANOVA, Eva, SIMANDLOVA, Martina, SALIH, Mustafa, NANDA, Arti, BASEL-VANAGAITE, Lina, VAN REEUWIJK, Jeroen, KAYSERILI, Hulya, YUKSEL-APAK, Memmune, LARREGUE, Marc, VIGNERON, Jacqueline, GIURGEA, Sanda, KORNAK, Uwe, MUNDLOS, Stefan, FISCHER, Bjoern, RAJAB, Anna, BUDDE, Birgit, NÜRNBERG, Peter, FOULQUIER, Francois, LEFEBER, Dirk

Volltext

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump von Sudbrak, R, Brown, J, Dobson-Stone, C, Carter, S, Ramser, J, White, J, Healy, E, Dissanayake, M, Larrègue, M, Perrussel, M, Lehrach, H, Munro, C S, Strachan, T, Burge, S, Hovnanian, A, Monaco, A P

Volltext

Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping von Chavanas, Stéphane, Garner, Chad, Bodemer, Christine, Ali, Mohsin, Teillac, Dominique Hamel, Wilkinson, John, Bonafé, Jean-Louis, Paradisi, Mauro, Kelsell, David P., Ansai, Shin-ichi, Mitsuhashi, Yoshihiko, Larrègue, Marc, Leigh, Irene M., Harper, John I., Taïeb, Alain, Prost, Yves de, Cardon, Lon R., Hovnanian, Alain

Volltext

Malignant blue nevus : Three new cases and a review of the literature von DUTEILLE, F, DUPORT, G, LARREGUE, M, NEAU, A, DURIEZ, P, HERVE, M. C

Volltext

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype von Longy, M, Coulon, V, Duboué, B, David, A, Larrègue, M, Eng, C, Amati, P, Kraimps, J L, Bottani, A, Lacombe, D, Bonneau, D

Volltext

Hailey-Hailey disease is caused by mutations in ATP2C1encoding a novel Ca2+ pump von Sudbrak, Ralf, Brown, Joanna, Dobson-Stone, Carol, Carter, Simon, Ramser, Juliane, White, Jacqueline, Healy, Eugene, Dissanayake, Manel, Larregue, Marc, Perrussel, Marc, Lehrach, Hans, Munro, Colin S, Strachan, Tom, Burge, Susan, Hovnanian, Alain, Monaco, Anthony P

Volltext

Microchimerism from a dizygotic twin in juvenile ulcerative lichen planus von Vabres, Pierre, Malinge, Marie-Claire, Larrègue, Marc, Bonneau, Dominique

Volltext

Olmsted Syndrome: Report of Two New Cases and Literature Review von Larrègue, Marc, Callot, Valérie, Kanitakis, Jean, Suau, A. Montis, Foret, Murielle

Volltext

Refined Genetic Mapping of the Darier Locus to a <1-cM Region of Chromosome 12q24.1, and Construction of a Complete, High-Resolution P1 Artificial Chromosome/Bacterial Artificial C... von Monk, Sarah, Sakuntabhai, Anavaj, Carter, Simon A., Bryce, Steven D., Cox, Roger, Harrington, Louise, Levy, Elaine, Ruiz-Perez, Victor L., Katsantoni, Eleni, Kodvawala, Ahmer, Munro, Colin S., Burge, Susan, Larrègue, Marc, Nagy, Gyula, Rees, Jonathan L., Lathrop, Mark, Monaco, Anthony P., Strachan, Tom, Hovnanian, Alain

Volltext

Absence of Lisch Nodules in Sporadic Neurofibromatosis Type 1 May Reflect Somatic Mosaicism von Vabres, Pierre, Bonneau, Dominique, Larrègue, Marc

Volltext

Microchimerism from a dizygotic twin in juvenile ulcerative lichen planus von Vabres, Pierre, Malinge, Marie-Claire, Larrègue, Marc, Bonneau, Dominique

Volltext

L’apport ignoré de la sociologie historique et réflexive des sciences von Joly, Marc, Larregue, Julien

Volltext

Sociologie et cognition von Cerulo, Karen A, Chartier, Gaëlle, Descamps, David, Foudi, Agathe, Joly, Marc, Larregue, Julien, Lebaron, Frédéric, Millet, Mathias, Sallée, Nicolas, Sembel, Nicolas

Volltext

L’apport ignoré de la sociologie historique et réflexive des sciences von Joly, Marc, Larregue, Julien

Volltext