HANNES, LAURENS; ATZORI, MARTA; GOLDENBERG, ALICE; ARGENTE, JESÚS; ATTIE-BITACH, TANIA; AMIEL, JEANNE; ATTANASIO, CATIA; BRASLAVSKY, DÉBORA G.; BRUEL, ANGE-LINE; CASTANET, MIREILLE; DUBOURG, CHRISTÈLE; JACOBS, AN; LYONNET, STANISLAS; MARTINEZ-MAYER, JULIAN; PÉREZ MILLÁN, MARÍA INÉS; PEZZELLA, NUNZIANA; PELGRIMS, ELISE; AERDEN, MIO; BAUTERS, MARIJKE; ROCHTUS, ANNE; SCAGLIA, PAULA; SWILLEN, ANN; SIFRIM, ALEJANDRO; TAMMARO, ROBERTA; MAU-THEM, FREDERIC TRAN; ODENT, SYLVIE; THAUVIN-ROBINET, CHRISTEL; FRANCO, BRUNELLA; BRECKPOT, JEROEN

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GENETICS IN MEDICINE; Año: 2024 vol. 26

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Genome Medicine; Año: 2024 vol. 16

MARTINEZ-MAYER, JULIAN; VISHNOPOLSKA, SEBASTIAN; PERTICARARI, CATALINA; IGLESIAS GARCIA, LUCIA; HACKBARTT, MARTINA; MARTINEZ, MARCELA; ZAIAT, JONATHAN; JACOME-ALVARADO, ANDREA; BRASLAVSKY, DEBORA; KESELMAN, ANA; BERGADÁ, IGNACIO; MARINO, ROXANA; RAMÍREZ, PABLO; PÉREZ GARRIDO, NATALIA; CIACCIO, MARTA; DI PALMA, MARIA ISABEL; BELGOROSKY, ALICIA; FORCLAZ, MARIA VERONICA; BENZRIHEN, GABRIELA; D'AMATO, SILVIA; CIRIGLIANO, MARIA LUJAN; MIRAS, MIRTA; PAEZ NUÑEZ, ALEJANDRA; CASTRO, LAURA; MALLEA-GIL, MARIA SUSANA; BALLARINO, CAROLINA; LATORRE-VILLACORTA, LAURA; CASIELLO, ANA CLARA; HERNANDEZ, CLAUDIA; FIGUEROA, VERONICA; ALONSO, GUILLERMO; MORIN, ANALIA; GUNTSCHE, ZELMIRA; LEE, HANE; LEE, EUGENE; SONG, YONGJUN; MARTI, MARCELO ADRIAN; PEREZ-MILLAN, MARIA INES

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JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; Año: 2024 vol. 109 p. 3196 - 3210

MARTINEZ-MAYER, JULIAN; PEREZ-MILLAN, MARIA INES

Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders

Frontiers in Endocrinology; Año: 2023 vol. 14

GERGICS, PETER; SMITH, CATHY; BANDO, HIRONORI; JORGE, ALEXANDER A.L.; ROCKSTROH-LIPPOLD, DENISE; VISHNOPOLSKA, SEBASTIAN A.; CASTINETTI, FREDERIC; MAKSUTOVA, MARIAM; CARVALHO, LUCIANI RENATA SILVEIRA; HOPPMANN, JULIA; MARTÍNEZ MAYER, JULIÁN; ALBAREL, FRÉDÉRIQUE; BRASLAVSKY, DEBORA; KESELMAN, ANA; BERGADÁ, IGNACIO; MARTÍ, MARCELO A.; SAVEANU, ALEXANDRU; BARLIER, ANNE; ABOU JAMRA, RAMI; GUO, MICHAEL H.; DAUBER, ANDREW; NAKAGUMA, MARILENA; MENDONCA, BERENICE B.; JAYAKODY, SAJINI N.; OZEL, A. BILGE; FANG, QING; MA, QIANYI; LI, JUN Z.; BRUE, THIERRY; PÉREZ MILLÁN, MARÍA INES; ARNHOLD, IVO J.P.; PFAEFFLE, ROLAND; KITZMAN, JACOB O.; CAMPER, SALLY A.

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

AMERICAN JOURNAL OF HUMAN GENETICS; Año: 2021 vol. 108 p. 1526 - 1539

CAMILLETTI, MARIA ANDREA; MARTINEZ MAYER, JULIAN; VISHNOPOLSKA, SEBASTIAN A.; PEREZ-MILLAN, MARIA INES

From Pituitary Stem Cell Differentiation to Regenerative Medicine

Frontiers in Endocrinology; Año: 2021 vol. 11