Resultados da busca - Rau, Isabella

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome por van Rahden, Vanessa A, Rau, Isabella, Fuchs, Sigrid, Kosyna, Friederike K, de Almeida, Hiram Larangeira, Fryssira, Helen, Isidor, Bertrand, Jauch, Anna, Joubert, Madeleine, Lachmeijer, Augusta M A, Zweier, Christiane, Moog, Ute, Kutsche, Kerstin

Obter o texto integral Obter o texto integral Obter o texto integral

Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa por Langmann, Thomas, Di Gioia, Silvio Alessandro, Rau, Isabella, Stöhr, Heidi, Maksimovic, Nela S., Corbo, Joseph C., Renner, Agnes B., Zrenner, Eberhart, Kumaramanickavel, Govindasamy, Karlstetter, Marcus, Arsenijevic, Yvan, Weber, Bernhard H.F., Gal, Andreas, Rivolta, Carlo

Obter o texto integral Obter o texto integral Obter o texto integral

Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease por Gal, Andreas, Rau, Isabella, El Matri, Leila, Kreienkamp, Hans-Jürgen, Fehr, Susanne, Baklouti, Karim, Chouchane, Ibtissem, Li, Yun, Rehbein, Monika, Fuchs, Josefine, Fledelius, Hans C., Vilhelmsen, Kaj, Schorderet, Daniel F., Munier, Francis L., Ostergaard, Elsebet, Thompson, Debra A., Rosenberg, Thomas

Obter o texto integral Obter o texto integral Obter o texto integral

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss por Huebner, Antje K., Gandia, Marta, Frommolt, Peter, Maak, Anika, Wicklein, Eva M., Thiele, Holger, Altmüller, Janine, Wagner, Florian, Viñuela, Antonio, Aguirre, Luis A., Moreno, Felipe, Maier, Hannes, Rau, Isabella, Gießelmann, Sebastian, Nürnberg, Gudrun, Gal, Andreas, Nürnberg, Peter, Hübner, Christian A., del Castillo, Ignacio, Kurth, Ingo

Obter o texto integral Obter o texto integral Obter o texto integral

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing por Nayak, Shalini S., Schneeberger, Pauline E., Patil, Siddaramappa J., Arun, Karegowda M., Suresh, Pujar V., Kiran, Viralam S., Siddaiah, Sateesh, Maiya, Shreesha, Venkatachalagupta, Shrikanth K., Kausthubham, Neethukrishna, Kortüm, Fanny, Rau, Isabella, Wey-Fabrizius, Alexandra, Van Den Heuvel, Lotte, Meester, Josephina, Van Laer, Lut, Shukla, Anju, Loeys, Bart, Girisha, Katta M., Kutsche, Kerstin

Obter o texto integral Obter o texto integral Obter o texto integral