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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 5

Zeitschriftenartikel

Kindt, Alida; Kraus, Yvonne; Rasp, David; Förster, Kai M.; Ahmidi, Narges; Flemmer, Andreas W.; Herber-Jonat, Susanne; Heinen, Florian; Weigand, Heike; Hankemeier, Thomas; Koletzko, Berthold; Krumsiek, Jan; Babl, Jürgen und Hilgendorff, Anne (2022): Improved Macro- and Micronutrient Supply for Favorable Growth and Metabolomic Profile with Standardized Parenteral Nutrition Solutions for Very Preterm Infants. In: Nutrients, Bd. 14, Nr. 19 [PDF, 2MB]

Kreienkamp, Hans-Juergen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril; Gauthier, Julie; Soucy, Jean-Francois; Michaud, Jacques L.; Dumas, Meghan; Smith, Rosemarie; Löbel, Ulrike; Hempel, Maja; Kubisch, Christian; Denecke, Jonas; Campeau, Philippe M.; Bain, Jennifer M. und Lessel, Davor (2022): Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. In: Human Genetics, Bd. 141, Nr. 2: S. 257-272

Schalk, Audrey; Cousin, Margot A.; Dsouza, Nikita R.; Challman, Thomas D.; Wain, Karen E.; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien ORCID logoORCID: https://orcid.org/0000-0002-3457-5684; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna ORCID logoORCID: https://orcid.org/0000-0001-7314-5962; Gabau, Elizabeth; Stolerman, Elliot ORCID logoORCID: https://orcid.org/0000-0001-9536-4621; Washington, Camerun; Louie, Ray; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, Micheil; Kooy, Frank ORCID logoORCID: https://orcid.org/0000-0003-2024-0485; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois ORCID logoORCID: https://orcid.org/0000-0002-9110-1856; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J; Zweier, Christiane; Reis, André ORCID logoORCID: https://orcid.org/0000-0002-6301-6363; Wagner, Matias ORCID logoORCID: https://orcid.org/0000-0002-4454-8823; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine ORCID logoORCID: https://orcid.org/0000-0002-0242-4566; Mignot, Cyril; Gassen, Koen van; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H.; Rudy, Natasha L.; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Tran Mau-them, Frederic ORCID logoORCID: https://orcid.org/0000-0002-3795-9456; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T.; Klee, Eric W. ORCID logoORCID: https://orcid.org/0000-0003-2946-5795; Piton, Amelie ORCID logoORCID: https://orcid.org/0000-0003-0408-7468 und Gerard, Benedicte (2021): De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 965-975

Baker, Kate; Gordon, Sarah L.; Melland, Holly; Bumbak, Fabian; Scott, Daniel J.; Jiang, Tess J.; Owen, David; Turner, Bradley J.; Boyd, Stewart G.; Rossi, Mari; Al-Raqad, Mohammed; Elpeleg, Orly; Peck, Dawn; Mancini, Grazia M. S.; Wilke, Martina; Zollino, Marcella; Marangi, Giuseppe; Weigand, Heike; Borggraefe, Ingo; Haack, Tobias; Stark, Zornitza; Sadedin, Simon; Tan, Tiong Yang; Jiang, Yunyun; Gibbs, Richard A.; Ellingwood, Sara; Amaral, Michelle; Kelley, Whitley; Kurian, Manju A.; Cousin, Michael A. und Raymond, F. Lucy (2018): SYT1-associated neurodevelopmental disorder: a case series. In: Brain, Bd. 141: S. 2576-2591

Vill, Katharina; Müller-Felber, Wolfgang; Alhaddad, Bader; Strom, Tim M.; Teusch, Veronika; Weigand, Heike; Blaschek, Astrid; Meitinger, Thomas und Haack, Tobias B. (2017): A Homozygous Splice Variant in AP4S1 Mimicking Neurodegeneration with Brain Iron Accumulation. In: Movement Disorders, Bd. 32, Nr. 5: S. 797-799

Diese Liste wurde am Sat Dec 21 19:13:10 2024 CET erstellt.