A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report by Diego Yeste, Diego Yeste, Cristina Aguilar-Riera, Gennaro Canestrino, Paula Fernández-Alvarez, María Clemente, María Clemente, Núria Camats-Tarruella, Núria Camats-Tarruella

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Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both th... by Noelia Baz-Redón, Noelia Baz-Redón, Laura Soler-Colomer, Mónica Fernández-Cancio, Mónica Fernández-Cancio, Sara Benito-Sanz, Sara Benito-Sanz, Marta Garrido, Teresa Moliné, María Clemente, María Clemente, María Clemente, María Clemente, Núria Camats-Tarruella, Núria Camats-Tarruella, Diego Yeste, Diego Yeste, Diego Yeste, Diego Yeste

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Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel <i>RPGR</i> Variant and Possible Modifier Gene by Noelia Baz-Redón, Laura Sánchez-Bellver, Mónica Fernández-Cancio, Sandra Rovira-Amigo, Thomas Burgoyne, Rai Ranjit, Virginia Aquino, Noemí Toro-Barrios, Rosario Carmona, Eva Polverino, Maria Cols, Antonio Moreno-Galdó, Núria Camats-Tarruella, Gemma Marfany

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Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene by Mónica Fernández-Cancio, Mónica Fernández-Cancio, María Antolín, María Antolín, María Clemente, María Clemente, María Clemente, María Clemente, Ariadna Campos-Martorell, Ariadna Campos-Martorell, Ariadna Campos-Martorell, Eduard Mogas, Eduard Mogas, Eduard Mogas, Noelia Baz-Redón, Noelia Baz-Redón, Jordi Leno-Colorado, Jordi Leno-Colorado, Gemma Comas-Armangué, Elena García-Arumí, Elena García-Arumí, Elena García-Arumí, Laura Soler-Colomer, Núria González-Llorens, Núria Camats-Tarruella, Núria Camats-Tarruella, Diego Yeste, Diego Yeste, Diego Yeste, Diego Yeste

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Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next studyResearch in co... by Chrysanthi Kouri, Idoia Martinez de Lapiscina, Rawda Naamneh-Elzenaty, Grit Sommer, Kay-Sara Sauter, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, S. Faisal Ahmed, 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, Hedi L. Claahsen - van der Grinten, Martine Cools, 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, Ieuan Hughes, Marco Janner, Uchenna Kennedy, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar L’Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, 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, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, LIoyd J.W. Tack, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

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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

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