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132 results

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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Ghasemi MR, Fateh ST, Ben-Mahmoud A, Gupta V, Stühn LG, Lesca G, Chatron N, Platzer K, Edery P, Sadeghi H, Isidor B, Cogné B, Schulz HL, Krauspe-Stübecke I, Periyasamy R, Nampoothiri S, Mirfakhraie R, Alijanpour S, Syrbe S, Pfeifer U, Spranger S, Grundmann-Hauser K, Haack TB, Papadopoulou MT, da Silva Gonçalves T, Panagiotakaki E, Arzimanoglou A, Tonekaboni SH, Rossi M, Korenke GC, Lacassie Y, Jang MH, Layman LC, Miryounesi M, Kim HG. Ghasemi MR, et al. Among authors: syrbe s. Am J Med Genet A. 2024 Dec 20:e63963. doi: 10.1002/ajmg.a.63963. Online ahead of print. Am J Med Genet A. 2024. PMID: 39707601
Vitamin B12 Deficiency Newborn Screening.
Mütze U, Gleich F, Haas D, Urschitz MS, Röschinger W, Janzen N, Hoffmann GF, Garbade SF, Syrbe S, Kölker S. Mütze U, et al. Among authors: syrbe s. Pediatrics. 2024 Aug 1;154(2):e2023064809. doi: 10.1542/peds.2023-064809. Pediatrics. 2024. PMID: 39040028
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.
Driedger JH, Schröter J; PROTECT-Study Group; Syrbe S, Saffari A. Driedger JH, et al. Among authors: syrbe s. Orphanet J Rare Dis. 2025 Jan 6;20(1):2. doi: 10.1186/s13023-024-03495-1. Orphanet J Rare Dis. 2025. PMID: 39762914 Free PMC article.
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L, Helbig I, Fitzgerald MP, McKeown Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen HG, Cuppen I, Christodoulou J, Wilson M, Lake NJ, Biskup S, Syrbe S, Mori T, Becker LL, Kaindl AM. Jolitz L, et al. Among authors: syrbe s. Ann Neurol. 2025 Jan 3. doi: 10.1002/ana.27141. Online ahead of print. Ann Neurol. 2025. PMID: 39749750
Exome sequencing in Nigerian children with early-onset epilepsy syndromes.
Ademuwagun IA, Adam Y, Rotimi SO, Syrbe S, Radtke M, Hentschel J, Lemke JR, Adebiyi E. Ademuwagun IA, et al. Among authors: syrbe s. Epilepsia Open. 2024 Nov 21. doi: 10.1002/epi4.13106. Online ahead of print. Epilepsia Open. 2024. PMID: 39570184 Free article.
132 results