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All Publications

Displaying 3 results.
    • Journal article
    Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
    Abdelfattah, Fatima Kariminejad, Ariana Kahlert, Anne-Karin Morrison, Patrick J Gumus, Evren Mathews, Katherine D Darbro, Benjamin W Amor, David J Walsh, Maie Sznajer, Yves[UCL] Weiß, Luisa Weidensee, Sabine Chitayat, David Shannon, Patrick Bermejo-Sánchez, Eva Riaño-Galán, Isolina Hayes, Ian Poke, Gemma Rooryck, Caroline Pennamen, Perrine Khung-Savatovsky, Suonavy Toutain, Annick Vuillaume, Marie-Laure Ghaderi-Sohi, Siavash Kariminejad, Mohamad H Weinert, Sönke Sticht, Heinrich Zenker, Martin Schanze, Denny (2020) Human mutation — Vol. 41, no.9, p. 1615-1628 (2020)
    • Journal article
    Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
    Pasutto, Francesca Sticht, Heinrich Hammersen, Gerhard Gillessen-Kaesbach, Gabriele FitzPatrick, David R. Nuernberg, Gudrun Brasch, Frank Schirmer-Zimmermann, Heidemarie Tolmie, John L. Chitayat, David Houge, Gunnar Fernandez-Martinez, Lorena Keating, Sarah Mortier, Geert Hennekam, Raoul C. M. von der Wense, Axel Slavotinek, Anne Meinecke, Peter Bitoun, Pierre Becker, Christian Nuernberg, Peter Reis, Andre Rauch, Anita (2007) American Journal of Human Genetics — Vol. 80, no. 3, p. 550-560 (2007)
    • Journal article
    De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy
    von Wintzingerode, Lydia Ben-Zeev, Bruria Cesario, Claudia Chan, Katie M. Depienne, Christel Elpeleg, Orly Iascone, Maria Kelley, Whitley V. Nassogne, Marie-Cécile[UCL] Niceta, Marcello Pezzani, Lidia Rahner, Nils Revencu, Nicole[UCL] Bekheirnia, Mir Reza Santiago-Sim, Teresa Tartaglia, Marco Thompson, Michelle L. Trivisano, Marina Hentschel, Julia Sticht, Heinrich Abou Jamra, Rami Oppermann, Henry (2023) Genetics in medicine — Vol. 25, no. 7, p. 100859 [1-10] (2023)