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von Mylène Donge ; Sandrine Marie ; Amandine Pochet ; et al.

International Journal of Neonatal Screening, Vol 11, Iss 3, p 59 (2025)

Schlagworte: pyridoxine-dependent epilepsy; ALDH7A1; 2-OPP; 6-oxo-pipecolate; pipecolate; FIA-MS/MS; Pediatrics; RJ1-570

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von Nika Schuermans ; Dimitri Hemelsoet ; Wim Terryn ; et al.

Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)

Schlagworte: Rare diseases; UD-PrOZA; Diagnostic odyssey; Whole exome sequencing; Diagnostic yield; MAP3K7; Medicine

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von Katrien Stouffs ; Patrick Verloo ; Stefanie Brock ; et al.

Frontiers in Genetics, Vol 11 (2020)

Schlagworte: NEDD4L; periventricular nodular heterotopia; polymicrogyria; syndactyly; seizures; malformation of cortical development; Genetics; QH426-470

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von Naesens, Leslie ; Nemegeer, Josephine ; Roelens, Filip ; et al.

Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 42(5):962-974

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von Rubio-Gozalbo, M. Estela ; Derks, Britt ; Das, Anibh Martin ; et al.

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(1):202-210

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von Keenswijk, Werner ; Verloo, Patrick ; Walle, Johan Vande

Pediatric Nephrology: Journal of the International Pediatric Nephrology Association . 32(11):2059-2062

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von Thakkar, Shraddha ; Slikker, William ; Yiannas, Frank ; et al.

Thakkar, Shraddha; Slikker, William; Yiannas, Frank; Silva, Primal; Blais, Burton; Chng, Kern Rei; Liu, Zhichao; Adholeya, Alok; Pappalardo, Francesco; Soares, Mônica da Luz Carvalho; Beeler, Patrick E; Whelan, Maurice; Roberts, Ruth; Borlak, Jurgen; Hugas, Martha; Torrecilla-Salinas, Carlos; Girard, Philippe; Diamond, Matthew C; Verloo, Didier; Panda, Binay; Rose, Miquella C; Jornet, Joaquim Berenguer; Furuhama, Ayako; Fang, Hong; Kwegyir-Afful, Ernest; Heintz, Kasey; Arvidson, Kirk; Burgos, Juan Garcia; Horst, Alexander; Tong, Weida (2023). Artificial intelligence and real-world data for drug and food safety - A regulatory science perspective. Regulatory Toxicology and Pharmacology (RTP), 140:105388.

Schlagworte: Epidemiology, Biostatistics and Prevention Institute (EBPI); 610 Medicine & health; Journal Article; PeerReviewed; info:eu-repo/semantics/article; info:eu-repo/semantics/publishedVersion

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von De Bruyne, Pauline ; Verloo, Patrick ; Van Hove, Johan L. K. ; et al.

Pediatric Transplantation; Sep2021, Vol. 25 Issue 6, p1-4, 4p

Schlagworte: LIVER transplantation; MITOCHONDRIAL pathology; COMA; METABOLIC regulation; CEREBRAL palsy; COGNITION disorders; CEREBRAL edema

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von Tavernier, S.J. (Simon) ; Athanasopoulos, V. (V.) ; Verloo, P. (Patrick) ; et al.

Schlagworte: info:eu-repo/semantics/article

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von Gheldof, Alexander ; Seneca, Sara ; Stouffs, Katrien ; et al.

Molecular genetics & genomic medicine, 7 (2

Schlagworte: Génétique moléculaire; 4MU-based enzymatic testing; diagnostic testing; gene panel sequencing; lysosomal storage disease; next-generation sequencing; info:eu-repo/semantics/article; info:ulb-repo/semantics/articlePeerReview; info:ulb-repo/semantics/openurl/article

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von Helene, Verhelst ; Patrick, Verloo ; Boel, De Paepe ; et al.

Clinical Neurology and Neurosurgery ; volume 113, issue 8, page 678-679 ; ISSN 0303-8467

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