Kitzman, Jacob

PRODUCCION CIENTÍFICO TECNOLÓGICA

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Artículo Genetics of combined pituitary hormone deficiency: Roadmap into the genome era

Fang, Qing; George, Akima S.; Brinkmeier, Michelle L.; Mortensen, Amanda H.; Gergics, Peter; Cheung, Leonard Y.M.; Daly, Alexandre Z.; Ajmal, Adnan; Pérez Millán, María Inés ; Bilge Ozel, A.; Kitzman, Jacob; Mills, Ryan E.; Li, Jun Z.; Camper, Sally (Endocrine Society, 2016-12)
Artículo High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Gergics, Peter; Smith, Cathy; Bando, Hironori; Jorge, Alexander A. L.; Rockstroh Lippold, Denise; Vishnopolska, Sebastián Alexis ; Castinetti, Frederic; Maksutova, Mariam; Carvalho, Luciani Renata Silveira; Hoppmann, Julia; Martínez Mayer, Julián Jorge; Albarel, Frédérique; Braslavsky, Debora Giselle ; Keselman, Ana Claudia; Bergadá, Ignacio ; Marti, Marcelo Adrian ; 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 Inés ; Arnhold, Ivo J. P.; Pfaeffle, Roland; Kitzman, Jacob; Camper, Sally (Cell Press, 2021-08)

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