An empty hemiscrotum: Transverse testicular ectopia

by Christelle Sommer, Eleuthere Stathopoulos, Maria Christina Antoniou, Kanetee Busiah, Michael Hauschild, Oliver Sanchez
Published 2020-08-01

Neonatal Diabetes Mellitus

by Jacques Beltrand, Jacques Beltrand, Jacques Beltrand, Kanetee Busiah, Kanetee Busiah, Laurence Vaivre-Douret, Laurence Vaivre-Douret, Laurence Vaivre-Douret, Anne Laure Fauret, Marianne Berdugo, Marianne Berdugo, Hélène Cavé, Hélène Cavé, Michel Polak, Michel Polak, Michel Polak
Published 2020-09-01

Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved

by Jenny Lam, Sophie Stoppa-Vaucher, Sophie Stoppa-Vaucher, Maria Cristina Antoniou, Thérèse Bouthors, Inge Ruiz, Nicole Sekarski, Tobias Rutz, Sophie Fries, Pierre Alain Binz, Florence Niel Bütschi, Nicolas Vulliemoz, Aneta Gawlik, Nelly Pitteloud, Nelly Pitteloud, Michael Hauschild, Michael Hauschild, Kanetee Busiah, Kanetee Busiah
Published 2023-07-01

RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells

by Vikash Chandra, Olivier Albagli-Curiel, Benoit Hastoy, Julie Piccand, Clotilde Randriamampita, Emmanuel Vaillant, Hélène Cavé, Kanetee Busiah, Philippe Froguel, Martine Vaxillaire, Patrik Rorsman, Michel Polak, Raphael Scharfmann
Published 2014-12-01

Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8

by Julie Mouron-Hryciuk, Sophie Stoppa-Vaucher, Kanetee Busiah, Thérèse Bouthors, Maria Christina Antoniou, Eric Jacot, Klaus Brusgaard, Henrik Thybo Christesen, Khalid Hussain, Andrew Dwyer, Matthias Roth-Kleiner, Michael Hauschild
Published 2021-03-01

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

by Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné-Chantelot, Louis Létourneau, Raphael Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel
Published 2010-10-01

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context

by Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Published 2024-01-01