부산대학교 도서관

Tee T; Princess Maxima Center for Pediatric Oncology, Utrecht.; Ruiter TJJ; Department of Genetics, Metabolic Diagnostics, UMC Utrecht, Utrecht.; Wu S; Department of Hematology and Oncology, Children's Hospital of Soochow University, Suzhou.; Zhang W; Princess Maxima Center for Pediatric Oncology, Utrecht.; Schenau DVI; Princess Maxima Center for Pediatric Oncology, Utrecht.; Rodionova M; Princess Maxima Center for Pediatric Oncology, Utrecht.; Wajon D; Princess Maxima Center for Pediatric Oncology, Utrecht.; Vervoort BMT; Princess Maxima Center for Pediatric Oncology, Utrecht.; Grunewald KJT; Princess Maxima Center for Pediatric Oncology, Utrecht.; Bosma M; Department of Genetics, Metabolic Diagnostics, UMC Utrecht, Utrecht.; Hagelaar R; Princess Maxima Center for Pediatric Oncology, Utrecht, the Netherlands; Oncode Institute, Utrecht.; Baker-Hernandez J; Princess Maxima Center for Pediatric Oncology, Utrecht.; Dahaoui A; Princess Maxima Center for Pediatric Oncology, Utrecht.; Schneider P; Princess Maxima Center for Pediatric Oncology, Utrecht.; Verhoeven-Duif NM; Department of Genetics, Metabolic Diagnostics, UMC Utrecht, Utrecht.; Van der Meer LT; Princess Maxima Center for Pediatric Oncology, Utrecht.; Van Leeuwen FN; Princess Maxima Center for Pediatric Oncology, Utrecht. f.n.vanleeuwen@prinsesmaximacentrum.nl.

Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE

I. J. Hieltjes; J. H. van der Lee; M. C. Groenendijk; G. van Haaften; P. M. van Hasselt; R. J. Lunsing; G. J. J. van Prooijen; E. M. de Ruiter; F. J. van Spronsen; N. M. Verhoeven‐Duif; A. de Vreugd; M. Wagenmakers; H. Zweers; H. Dekker; H. R. Waterham; C. D. van Karnebeek; R. J. A. Wanders; R. A. Wevers

JIMD Rep
JIMD Reports, Vol 66, Iss 1, Pp n/a-n/a (2025)
Jimd Reports, 66, 1

van der Veen, Sigrid ; Jans, Judith J.M. ; van Beers, Eduard J. ; Biemond, Bart J. ; Bartolucci, Pablo ; Boaro, Maria Paola ; Collado Gimbert, Anna ; Colombatti, Raffaella ; D'Agnolo, Mirco ; Fijnvandraat, Karin J. ; Idrizovic, Amira ; Kountouris, Petros ; Mañú Pereira, Mar ; Mezzalira, Elisabetta ; Rab, Minke A.E. ; Rijneveld, Anita W. ; Sanavia, Tiziana ; Verhoeven-Duif, Nanda M. ; Cnossen, Marjon H.

In Blood Reviews

Willems, Anke P.; van der Ham, Maria; Schiebergen-Bronkhorst, Birgit G. M.; van Aalderen, Mirjam; de Barse, Martina M. J.; de Gruyter, Fini E.; van Hoek, Ilja N.; Pras-Raves, Mia L.; de Sain-van der Velden, Monique G. M.; Prinsen, Hubertus C. M. T.; Verhoeven-Duif, Nanda M.; Jans, Judith J. M.

Front Mol Biosci
Frontiers in Molecular Biosciences, Vol 10 (2023)
Willems, A P, van der Ham, M, Schiebergen-Bronkhorst, B G M, van Aalderen, M, de Barse, M M J, de Gruyter, F E, van Hoek, I N, Pras-Raves, M L, de Sain-van der Velden, M G M, Prinsen, H C M T, Verhoeven-Duif, N M & Jans, J J M 2023, 'A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases', Frontiers in Molecular Biosciences, vol. 10, 1283083. https://doi.org/10.3389/fmolb.2023.1283083

Haijes, Hanneke A. ; de Sain-van der Velden, Monique G.M. ; Prinsen, Hubertus C.M.T. ; Willems, Anke P. ; van der Ham, Maria ; Gerrits, Johan ; Couse, Madeline H. ; Friedman, Jan M. ; van Karnebeek, Clara D.M. ; Selby, Kathryn A. ; van Hasselt, Peter M. ; Verhoeven-Duif, Nanda M. ; Jans, Judith J.M.

In Molecular Genetics and Metabolism August 2019 127(4):368-372

Matser, Yvette A. H.; Verly, Iedan R. N.; van der Ham, Maria; de Sain-van der Velden, Monique G. M.; Verhoeven-Duif, Nanda M.; Ash, Shifra; Cangemi, Giuliana; Barco, Sebastiano; Popovic, Maja Beck; van Kuilenburg, André B. P.; Tytgat, Godelieve A. M.; Cañete, Adela; Wieczorek, Aleksandra; Vicha, Ales; Alba, Amparo; Ryan, Anne L.; Brichard, B. nédicte; Yalçın, Bilgehan; Martínez, Blanca; Márquez, Catalina; Klapkova, Eva; Schleiermacher, Gudrun; Deubzer, Hedwig; Ryberg, Henrik; Øra, Ingrid; Sastry, Jairam; Bugajska, Jolanta; Gray, Juliet C.; Baka, Margarita; Martínez, Maria Luisa; Phillips, Marianne B.; Renard, Marleen; Vermeersch, Pieter; Alvaro, Raquel Hladun; Almaraz, Ricardo L. pez; Simon, Thorsten; Ek, Torben; Segura, Vanessa; Papadakis, Vassilios

idUS. Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
SIOPEN Catecholamine Working Group 2023, 'Optimising urinary catecholamine metabolite diagnostics for neuroblastoma', Pediatric Blood and Cancer, vol. 70, no. 6, e30289. https://doi.org/10.1002/pbc.30289
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Pediatric Blood & Cancer, Vol. 70, no.6, p. 1-8 (2023)
Pediatric blood & cancer, vol. 70, no. 6, pp. e30289

German HM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Usmani MA; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD; Department of Biotechnology, Kohsar University Murree, Pakistan; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.; Karagoz I; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Arabiyat HA; Ministry of Health, Al-Hussein Salt New Hospital, As-Salt, Jordon.; Ghaffar A; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Shahzad M; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.; van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.; Ahmed ZM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD; Department of Molecular Biology and Biochemistry, School of Medicine, University of Maryland, Baltimore, MD.; Yaghini O; Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.; Hosseini N; Department of Pediatric Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.; Majidinezhad M; Department of Pediatric Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.; Alavi S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Palindrome, Isfahan, Iran.; Bosma M; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Broeks MH; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Türkdoğan D; Marmara University, Medical Faculty, Department of Pediatric Neurology, Istanbul, Türkiye.; Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.; Laura de Godoy L; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Riazuddin S; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA; Rady Children's Institute for Genomic Medicine, San Diego, CA.; Alves C; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Jans JJM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Riazuddin S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD; Department of Molecular Biology and Biochemistry, School of Medicine, University of Maryland, Baltimore, MD.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Dorinde Korteling; Marco P. Boks; Ania M. Fiksinski; Ilja N. van Hoek; Jacob A. S. Vorstman; Nanda M. Verhoeven-Duif; Judith J. M. Jans; Janneke R. Zinkstok

Translational Psychiatry, Vol 12, Iss 1, Pp 1-7 (2022)

Luykx, J. J.; Bakker, S. C.; Visser, W. F.; Verhoeven-Duif, N.; Buizer-Voskamp, J. E.; den Heijer, J. M.; Boks, M. P M; Sul, J. H.; Eskin, E.; Ori, A. P.; Cantor, R. M.; Vorstman, J.; Strengman, E.; DeYoung, J.; Kappen, T. H.; Pariama, E.; van Dongen, E. P A; Borgdorff, P.; Bruins, P.; de Koning, T. J.; Kahn, R. S.; Ophoff, R. A.

Molecular Psychiatry

Haijes, H A; Molema, F; Langeveld, M; Janssen, M C; Bosch, A M; van Spronsen, F J; Mulder, M F; Verhoeven-Duif, N M; Jans, J J M; van der Ploeg, A T; Wagenmakers, M A; Rubio-Gozalbo, M E; Brouwers, M C G J; de Vries, M C; Langendonk, J G; Williams, M; van Hasselt, P M

J Inherit Metab Dis
Haijes, H A, Molema, F, Langeveld, M, Janssen, M C, Bosch, A M, van Spronsen, F, Mulder, M F, Verhoeven-Duif, N M, Jans, J J M, van der Ploeg, A T, Wagenmakers, M A, Rubio-Gozalbo, M E, Brouwers, M C G J, de Vries, M C, Langendonk, J G, Williams, M & van Hasselt, P M 2020, 'Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia : What to aim, expect, and evaluate from newborn screening?', Journal of Inherited Metabolic Disease, vol. 43, no. 3, pp. 424-437. https://doi.org/10.1002/jimd.12193
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H. A. Haijes; J. J. M. Jans; M. van der Ham; P. M. van Hasselt; N. M. Verhoeven-Duif

Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)

Johnstone, D.L.; Al-Shekaili, H.H.; Tarailo-Graovac, M.; Wolf, N.I.; Ivy, A.S.; Demarest, S.; Roussel, Y.; Ciapaite, J.; van Roermund, C.W.T.; Kernohan, K.D.; Kosuta, C.; Ban, K.; Ito, Y.; McBride, S.; Al-Thihli, K.; Abdelrahim, R.A.; Koul, R.; Al Futaisi, A.; Haaxma, C.A.; Olson, H.; Sigurdardottir, L.Y.; Arnold, G.L.; Gerkes, E.H.; Boon, M.; Heiner-Fokkema, M.R.; Noble, S.; Bosma, M.; Jans, J.; Koolen, D.A.; Kamsteeg, E.J.; Drogemoller, B.; Ross, C.J.; Majewski, J.; Cho, M.T.; Begtrup, A.; Wasserman, W.W.; Bui, T.; Brimble, E.; Violante, S.; Houten, S.M.; Wevers, R.A.; van Faassen, M.; Kema, I.P.; Lepage, N.; Lines, M.A.; Dyment, D.A.; Wanders, R.J.; Verhoeven-Duif, N.; Ekker, M.; Boycott, K.M.; Friedman, J.M.; Pena, I.A.; van Karnebeek, C.D.

Brain, 142, 3, pp. 542-559
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Glen R. Monroe; Albertien M. van Eerde; Federico Tessadori; Karen J. Duran; Sanne M. C. Savelberg; Johanna C. van Alfen; Paulien A. Terhal; Saskia N. van der Crabben; Klaske D. Lichtenbelt; Sabine A. Fuchs; Johan Gerrits; Markus J. van Roosmalen; Koen L. van Gassen; Mirjam van Aalderen; Bart G. Koot; Marlies Oostendorp; Marinus Duran; Gepke Visser; Tom J. de Koning; Francesco Calì; Paolo Bosco; Karin Geleijns; Monique G. M. de Sain-van der Velden; Nine V. Knoers; Jeroen Bakkers; Nanda M. Verhoeven-Duif; Gijs van Haaften; Judith J. Jans

Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)

VAN DER VEEN S.; VAN DIJK M.; JANS J.; VERHOEVEN-DUIF N.; VAN WIJK R.; BARTELS M.; MAÑÚ PEREIRA M.; COLOMBATTI R.; MARTELLA M.; MUNARETO V.; BOARO M.; BARTOLLUCI P.; CNOSSEN M.; BIEMOND B.; VAN BEERS E.

HemaSphere, Vol 6, Pp 28-29 (2022)

S. van der Veen; M. van Dijk; J. Jans; N. Verhoeven-Duif; R. van Wijk; M. Bartels; M. Mañú Pereira; R. Colombatti; M. Martella; V. Munaretto; M. Boaro; P. Bartolucci; M. Cnossen; B. Biemond; E. van Beers

HemaSphere, Vol 6, Pp 1381-1382 (2022)

van den Broek, Brigitte T.A. ; Lindemans, Caroline A. ; Boelens, Jaap Jan ; Delemarre, Eveline M. ; Drylewicz, Julia ; Verhoeven-Duif, Nanda ; van Hasselt, Peter M. ; Nierkens, Stefan

In Blood Advances 24 August 2021 5(16):3092-3101

Prinsen, Hubertus C M T; Schiebergen-Bronkhorst, B. G M; Roeleveld, M. W.; Jans, J. J M; de Sain-van der Velden, M. G M; Visser, G.; van Hasselt, P. M.; Verhoeven-Duif, N. M.

J Inherit Metab Dis

de Sain-van der Velden, M. G. M.; Jans, J. J.; Figee, M.; Engelen, M.; Prinsen, H. C. M. T.; Verhoeven-Duif, N. M.; van Kuilenburg, A. B. P.; Visser, G.; Vinkers, C. H.

De Sain-Van der Velden, M G M, Jans, J J, Figee, M, Engelen, M, Prinsen, H C M T, Verhoeven-Duif, N M, van Kuilenburg, A B P, Visser, G & Vinkers, C H 2016, 'Stofwisselingsziekten binnen de psychiatrie', Tijdschrift voor Psychiatrie, vol. 58, no. 5, pp. 402-406.

Hasselt, P.M. van; Ferdinandusse, S.; Monroe, G.R.; Ruiter, J.P.; Turkenburg, M.; Geerlings, M.J.; Duran, K.; Harakalova, M.; Zwaag, B. van der; Monavari, A.A.; Okur, I.; Sharrard, M.J.; Cleary, M.; O'Connell, N.; Walker, V.; Rubio-Gozalbo, M.E.; Vries, M.C. de; Visser, G.; Houwen, R.H.J.; Smagt, J.J. van der; Verhoeven-Duif, N.M.; Wanders, R.J.; Haaften, G. van

The New England Journal of Medicine, 371, 20, pp. 1900-7

Baumgart, A.; von Spiczak, S.; Verhoeven-Duif, N. M.; Moller, R. S.; Boor, R.; Muhle, H.; Jahn, J. A.; Klitten, Laura Line; Hjalgrim, H.; Lindhout, D.; Stephani, U.; van Kempen, M. J. A.; Helbig, I.

Baumgart, A, von Spiczak, S, Verhoeven-Duif, N M, Moller, R S, Boor, R, Muhle, H, Jahn, J A, Klitten, L L, Hjalgrim, H, Lindhout, D, Stephani, U, van Kempen, M J A & Helbig, I 2014, ' Atypical Vitamin B-6 Deficiency A Rare Cause of Unexplained Neonatal and Infantile Epilepsies ', Journal of Child Neurology, vol. 29, no. 5, pp. 704-707 . https://doi.org/10.1177/0883073813505354