Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions von BOUE, Joëlle, BOUE, André, LAZAR, Philippe

Volltext

Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency von Barbat, Benoit, Bogyo, Any, Raux-Demay, Marie-Charles, Kuttenn, Frédéarique, Boué, Joelle, Simon-Bouy, Brigitte, Serre, Jean-Louis, Boué, André, Mornet, Etienne

Volltext

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation von Rousseau, François, Heitz, Dominique, Biancalana, Valérie, Blumenfeld, Sandra, Kretz, Christine, Boué, Joëlle, Tommerup, Niels, Hagen, Carl Van Der, DeLozier-Blanchet, Célia, Croquette, Marie-Françoise, Gilgenkrantz, Simone, Jalbert, Pierre, Voelckel, Marie-Antoinette, Oberlé, Isabelle, Mandel, Jean-Louis

Volltext

Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. 1975 von Boué, Joëlle, Boué, André, Lazar, Philippe

Volltext

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation von Bienvenu, Thierry, des Portes, Vincent, McDonell, Nathalie, Carrié, Alain, Zemni, Ramzi, Couvert, Philippe, Ropers, Hilger H., Moraine, Claude, van Bokhoven, Hans, Fryns, Jean Pierre, Allen, Kristina, Walsh, Christopher A., Boué, Joelle, Kahn, Axel, Chelly, Jamel, Beldjord, Cherif

Volltext

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency von MORNET, E, CRETE, P, KUTTENN, F, RAUX-DEMAY, M.-C, BOUE, J, WHITE, P. C, BOUE, A

Volltext

Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II von HÜHN, R, STOERMER, H, SCHERER, G, KLINGELE, B, BAUSCH, E, FOIS, A, FARNETANI, M, DI ROCCO, M, BOUE, J, KIRK, J. M, COLEMAN, R

Volltext

Pelizaeus-Merzbacher Disease: A Valine to Phenylalanine Point Mutation in a Putative Extracellular Loop of Myelin Proteolipid von PHAM-DINH, D, POPOT, J.-L, BOESPFLUG-TANGUY, O, LANDRIEU, P, DELEUZE, J.-F, BOUE, J, JOLLES, P, DAUTIGNY, A

Volltext

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation von ROUSSEAU, FRANÇOIS, HEITZ, DOMINIQUE, BIANCALANA, VALÉRIE, BLUMENFELD, SANDRA, KRETZ, CHRISTINE, BOUÉ, JOELLE, TOMMERUP, NIELS, DER HAGEN, CARL VAN, DELOZIER-BLANCHET, CÉLIA, CROQUETTE, MARIE FRANÇOISE, GILGENKRANTZ, SIMON, JALBERT, PIERRE, VOELCKEL, MARIE-ANTOINETTE, OBERLE, ISABELLE, MANDEL, JEAN-LOUIS

Volltext

Prenatal diagnosis of Niemann-Pick type C disease : current strategy from an experience of 37 pregnancies at risk von VANIER, M. T, RODRIGUEZ-LAFRASSE, C, REVOL, A, LOUISOT, P, ROUSSON, R, MANDON, G, BOUE, J, CHOISET, A, PEYRAT, M.-F, DUMONTEL, C, JUGE, M.-C, PENTCHEV, P. G

Volltext

A gene for dominant nonspecific X-linked mental retardation is located in Xq28 von DES PORTES, V, BILLUART, P, CHELLY, J, CARRIE, A, BACHNER, L, BIENVENU, T, VINET, M. C, BELDJORD, C, PONSOT, G, KAHN, A, BOUE, J

Volltext

THE IN VITRO GROWTH OF RUBELLA VIRUS IN HUMAN EMBRYO CELLS von PLOTKIN, STANLEY A., BOUÉ, ANDRE, BOUÉ, JOELLE G.

Volltext

Human triploidy: Association with partial hydatidiform moles and nonmolar conceptuses von Szulman, Aron E., Philippe, Emile, Boué, Joelle G., Boué, Andre

Volltext

Amniotic fluid GGT and congenital extrahepatic biliary damage von Muller, Françoise, Gauthier, Frédéric, Laurent, Jocelyne, Schmitt, Michel, Boué, Joelle

Volltext

PRENATAL SEX DETERMINATION von Boué, Joelle, Dumez, Yves

Volltext

Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia typeII von Hühn, Regina, Stoermer, Heike, Klingele, Beate, Bausch, Elke, Fois, Alberto, Farnetani, Mariangela, Di Rocco, Maja, Boué, Joelle, Kirk, Jean M., Coleman, Rosalind, Scherer, G.

Volltext

THE IN VITRO GROWTH OF RUBELLA VIRUS IN HUMAN EMBRYO CELLS1 von PLOTKIN, STANLEY A., BOUÉ, ANDRE, BOUÉ, JOELLE G.

Volltext

First-trimester diagnosis of hypophosphatasia. Importance of gestational age and of purity of CV samples von Muller, F., Ouryß, J. F., Bussière, P., Lewin, F., Boué, Joëlle

Volltext

INCREASED FREQUENCY OF CHROMOSOMAL ANOMALIES IN ABORTIONS AFTER INDUCED OVULATION von Boué, JoelleG, Boué, André

Volltext

Molecular analysis of a ring chromosome X in a family with fragile X syndrome von MORNET, E, BOGYO, A, DELUCHAT, C, SIMON-BOUY, B, MATHIEU, M, THEPOT, F, GRISARD, M.-C, LEGUERN, E, BOUE, J, BOUE, A

Volltext