Spectrum of Movement Disorders in 18p Deletion Syndrome

द्वारा Crosiers, David, Blaumeiser, Bettina, Van Goethem, Gert
में प्रकाशित Mov Disord Clin Pract (2018)

Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome

द्वारा Crosiers, David, Blaumeiser, Bettina, Van Goethem, Gert
में प्रकाशित Mov Disord Clin Pract (2019)

A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis

द्वारा Mannaerts, Dominique, Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves
में प्रकाशित BMJ Case Rep (2015)

Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations

द्वारा Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Janssens, Katrien
में प्रकाशित Clin Case Rep (2017)

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era

द्वारा Vervecken, Evy, Blaumeiser, Bettina, Vanderheyden, Tina, Hauspy, Jan, Janssens, Katrien
में प्रकाशित Clin Case Rep (2020)

Difference in Procedure-Related Risk of Miscarriage between Early and Mid-Trimester Amniocentesis: A Retrospective Cohort Study

द्वारा Steinfort, Kelly, Van Houtven, Ellen, Jacquemyn, Yves, Blaumeiser, Bettina, Loquet, Philip
में प्रकाशित Diagnostics (Basel) (2021)

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

द्वारा Southgate, Laura, Machado, Rajiv D., Snape, Katie M., Primeau, Martin, Dafou, Dimitra, Ruddy, Deborah M., Branney, Peter A., Fisher, Malcolm, Lee, Grace J., Simpson, Michael A., He, Yi, Bradshaw, Teisha Y., Blaumeiser, Bettina, Winship, William S., Reardon, Willie, Maher, Eamonn R., FitzPatrick, David R., Wuyts, Wim, Zenker, Martin, Lamarche-Vane, Nathalie, Trembath, Richard C.
प्रकाशित 2011

Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

द्वारा Hillmer, Axel M. , Hanneken, Sandra , Ritzmann, Sibylle , Becker, Tim , Freudenberg, Jan , Brockschmidt, Felix F. , Flaquer, Antonia , Freudenberg-Hua, Yun , Jamra, Rami Abou , Metzen, Christine , Heyn, Uwe , Schweiger, Nadine , Betz, Regina C. , Blaumeiser, Bettina , Hampe, Jochen , Schreiber, Stefan , Schulze, Thomas G. , Hennies, Hans Christian , Schumacher, Johannes , Propping, Peter , Ruzicka, Thomas , Cichon, Sven , Wienker, Thomas F. , Kruse, Roland , Nöthen, Markus M. 
प्रकाशित 2005

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

द्वारा Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J
में प्रकाशित Hum Mol Genet (2019)

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

द्वारा Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J
में प्रकाशित Hum Mol Genet (2020)

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

द्वारा Forstbauer, Lina M, Brockschmidt, Felix F, Moskvina, Valentina, Herold, Christine, Redler, Silke, Herzog, Alexandra, Hillmer, Axel M, Meesters, Christian, Heilmann, Stefanie, Albert, Florian, Alblas, Margrieta, Hanneken, Sandra, Eigelshoven, Sibylle, Giehl, Kathrin A, Jagielska, Dagny, Blume-Peytavi, Ulrike, Bartels, Natalie Garcia, Kuhn, Jennifer, Hennies, Hans Christian, Goebeler, Matthias, Jung, Andreas, Peitsch, Wiebke K, Kortüm, Anne-Katrin, Moll, Ingrid, Kruse, Roland, Lutz, Gerhard, Wolff, Hans, Blaumeiser, Bettina, Böhm, Markus, Kirov, George, Becker, Tim, Nöthen, Markus M, Betz, Regina C
प्रकाशित 2012

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

द्वारा Betz, Regina C., Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H., Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M., Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I., Lee, Annette, Gregersen, Peter K., Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I. W., Nöthen, Markus M., Daly, Mark J., Christiano, Angela M.
में प्रकाशित Nat Commun (2015)

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

द्वारा Ludwig, Kerstin U, Mangold, Elisabeth, Herms, Stefan, Nowak, Stefanie, Reutter, Heiko, Paul, Anna, Becker, Jessica, Herberz, Ruth, AlChawa, Taofik, Nasser, Entessar, Böhmer, Anne C, Mattheisen, Manuel, Alblas, Margrieta A, Barth, Sandra, Kluck, Nadine, Lauster, Carola, Braumann, Bert, Reich, Rudolf H, Hemprich, Alexander, Pötzsch, Simone, Blaumeiser, Bettina, Daratsianos, Nikolaos, Kreusch, Thomas, Murray, Jeffrey C, Marazita, Mary L, Ruczinski, Ingo, Scott, Alan F, Beaty, Terri H, Kramer, Franz-Josef, Wienker, Thomas F, Steegers-Theunissen, Regine P, Rubini, Michele, Mossey, Peter A, Hoffmann, Per, Lange, Christoph, Cichon, Sven, Propping, Peter, Knapp, Michael, Nöthen, Markus M
प्रकाशित 2012

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

द्वारा Jacquemont, Sébastien, Reymond, Alexandre, Zufferey, Flore, Harewood, Louise, Walters, Robin G., Kutalik, Zoltán, Martinet, Danielle, Shen, Yiping, Valsesia, Armand, Beckmann, Noam D., Thorleifsson, Gudmar, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, De Leeuw, Nicole, De Vries, Bert B. A., Esko, Tõnu, Fernandez, Bridget A., Fernández-Aranda, Fernando, Fernández-Real, José Manuel, Gratacòs, Mònica, Guilmatre, Audrey, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Kooy, Frank R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Van Haelst, Mieke M., Villatoro Gomez, Sergi, Walha, Faida, Wu, Bai-Lin, Yu, Yongguo, Aboura, Azzedine, Addor, Marie-Claude, Alembik, Yves, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bednarek, Nathalie, Béna, Frédérique, Bergmann, Sven, Beri, Mylène, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Bottani, Armand, Boute, Odile, Brunner, Han G., Cailley, Dorothée, Callier, Patrick, Chiesa, Jean, Chrast, Jacqueline, Coin, Lachlan, Coutton, Charles, Cuisset, Jean-Marie, Cuvellier, Jean-Christophe, David, Albert, De Freminville, Bénédicte, Delobel, Bruno, Delrue, Marie-Ange, Demeer, Bénédicte, Descamps, Dominique, Didelot, Gérard, Dieterich, Klaus, Disciglio, Vittoria, Doco-Fenzy, Martine, Drunat, Séverine, Duban-Bedu, Bénédicte, Dubourg, Christèle, El-Sayed Moustafa, Julia S., Elliott, Paul, Faas, Brigitte H. W., Faivre, Laurence, Faudet, Anne, Fellmann, Florence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gerard, Marion, Gieger, Christian, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Guichet, Agnès, Guillin, Olivier, Hartikainen, Anna-Liisa, Heron, Délphine, Hippolyte, Loyse, Holder, Muriel, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Joly Helas, Géraldine, Jonveaux, Philippe, Kaksonen, Satu, Keren, Boris, Kloss-Brandstätter, Anita, Knoers, Nine V. A. M., Koolen, David A., Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Landais, Emilie, Lapi, Elisabetta, Layet, Valérie, Legallic, Solenn, Leheup, Bruno, Leube, Barbara, Lewis, Suzanne, Lucas, Josette, Macdermot, Kay D., Magnusson, Pall, Marshall, Christian R., Mathieu-Dramard, Michèle, Mccarthy, Mark I., Meitinger, Thomas, Antonietta Mencarelli, Maria, Merla, Giuseppe, Moerman, Alexandre, Mooser, Vincent, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Coumba Ndiaye, Ndeye, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Pfundt, Rolph, Plessis, Ghislaine, Rajcan-Separovic, Evica, Paolo Ramelli, Gian, Rauch, Anita, Ravazzolo, Roberto, Reis, Andre, Renieri, Alessandra, Richart, Cristobal, Ried, Janina S., Rieubland, Claudine, Roberts, Wendy, Roetzer, Katharina M., Rooryck, Caroline, Rossi, Massimiliano, Saemundsen, Evald, Satre, Véronique, Schurmann, Claudia, Sigurdsson, Engilbert, Stavropoulos, Dimitri J., Stefansson, Hreinn, Tengström, Carola, Thorsteinsdóttir, Unnur, Tinahones, Francisco J., Touraine, Renaud, Vallée, Louis, Van Binsbergen, Ellen, Van Der Aa, Nathalie, Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-Van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Zwolinksi, Simon, Andrieux, Joris, Estivill, Xavier, Gusella, James F., Gustafsson, Omar, Metspalu, Andres, Scherer, Stephen W., Stefansson, Kari, Blakemore, Alexandra I. F., Beckmann, Jacques S., Froguel, Philippe
प्रकाशित 2011