학술논문
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'학술논문'
에서 검색결과 592건 | 목록
1~20
Academic Journal
Devlynne S. Ondusko; Lauren Culbertson; Cary O. Harding; Cori Feist; Johan L.K. Van Hove; Marisa W. Friederich; Sacha Ferdinandusse; Roxanne A. Van Hove; Jonathan N. Pruneda; Brian Scottoline; Kimberly A. Kripps
Journal of Pediatric Genetics. 14
Academic Journal
Arthur A Bergen; Mark JN Buijs; Anneloor LMA ten Asbroek; Berith M Balfoort; Camiel JF Boon; Roselie RMH Diederen; Sacha Ferdinandusse; Elise A Ferreira; Patrick Schultink; Corrie Timmer; Frédéric M Vaz; Joost Verhaagen; Margreet AEM Wagenmakers; Hans R Waterham; Frits Wijburg; Marion M Brands; Ronald JA Wanders; Clara DM van Karnebeek; Riekelt H Houtkooper
EMBO Mol Med
Academic Journal
Balfoort, Berith M. ; Pampalone, Gioena ; Ruiter, Jos P.N. ; Denis, Simone W. ; Brands, Marion M. ; Timmer, Corrie ; Wagenmakers, Margreet A.E.M. ; Wanders, Ronald J.A. ; van Karnebeek, Clara D. ; Cellini, Barbara ; Houtkooper, Riekelt H. ; Ferdinandusse, Sacha
In Molecular Genetics and Metabolism September-October 2024 143(1-2)
Academic Journal
Fatema Al‐Amrani; Jos P. N. Ruiter; Mirjam Doolaard; Alok Kumar; Sacha Ferdinandusse; Khalid Al‐Thihli
American Journal of Medical Genetics Part A. 197
Academic Journal
Vaz, Frédéric M. ; Staps, Pippa ; van Klinken, Jan Bert ; van Lenthe, Henk ; Vervaart, Martin ; Wanders, Ronald J.A. ; Pras-Raves, Mia L. ; van Weeghel, Michel ; Salomons, Gajja S. ; Ferdinandusse, Sacha ; Wevers, Ron A. ; Willemsen, Michèl A.A.P.
In BBA - Molecular and Cell Biology of Lipids March 2024 1869(2)
Academic Journal
Berner, Jakob, MD; van de Wetering, Cheryl, MSc, PhD; Jimenez Heredia, Raul, MSc; Rashkova, Christina, MSc; Ferdinandusse, Sacha, MSc, PhD; Koster, Janet, MSc; Weiss, Johannes G., MD; Frohne, Alexandra, MSc; Giuliani, Sarah, MSc; Waterham, Hans R., MSc, PhD; Castanon, Irinka, MSc, PhD; Brunner, Jürgen, MSc, MD; Boztug, Kaan, MD
The Journal of Allergy and Clinical Immunology. 152(4):1025-1031
Academic Journal
Monda, Emanuele ; Bakalakos, Athanasios ; Syrris, Petros ; Mohiddin, Saidi ; Ferdinandusse, Sacha ; Murphy, Elaine ; Elliott, Perry Mark
In European Journal of Medical Genetics December 2023 66(12)
Academic Journal
Monique Albersen; Samantha L. van der Beek; Inge M. E. Dijkstra; Mariëlle Alders; Rinse W. Barendsen; Jet Bliek; Anita Boelen; Merel S. Ebberink; Sacha Ferdinandusse; Susan M. I. Goorden; Annemieke C. Heijboer; Mandy Jansen; Yorrick R. J. Jaspers; Ingrid Metgod; Gajja S. Salomons; Frédéric M. Vaz; Rendelien K. Verschoof‐Puite; Wouter F. Visser; Eugènie Dekkers; Marc Engelen; Stephan Kemp
J Inherit Metab Dis
Albersen, M, van der Beek, S L, Dijkstra, I M E, Alders, M, Barendsen, R W, Bliek, J, Boelen, A, Ebberink, M S,Ferdinandusse , S, Goorden, S M I, Heijboer, A C, Jansen, M, Jaspers, Y R J, Metgod, I, Salomons, G S, Vaz, F M, Verschoof-Puite, R K, Visser, W F, Dekkers, E, Engelen, M & Kemp, S 2022, 'Sex-specific newborn screening for X-linked adrenoleukodystrophy', Journal of Inherited Metabolic Disease. https://doi.org/10.1002/jimd.12571
Albersen, M, van der Beek, S L, Dijkstra, I M E, Alders, M, Barendsen, R W, Bliek, J, Boelen, A, Ebberink, M S,
Academic Journal
Waterham, Hans R. ; Koster, Janet ; Ebberink, Merel S. ; Ješina, Pavel ; Zeman, Jiri ; Nosková, Lenka ; Kmoch, Stanislav ; Devic, Perrine ; Cheillan, David ; Wanders, Ronald J.A. ; Ferdinandusse, Sacha
In Genetics in Medicine November 2023 25(11)
Academic Journal
Nina N. Stolwijk; Mirjam Langeveld; Bart A. W. Jacobs; Liffert Vogt; Jorien A. Haverkamp; Sacha Ferdinandusse; Carla E. M. Hollak
JIMD Rep
JIMD Reports, Vol 63, Iss 5, Pp 407-413 (2022)
JIMD Reports, Vol 63, Iss 5, Pp 407-413 (2022)
Academic Journal
Marit Schwantje; Merel S. Ebberink; Mirjam Doolaard; Jos P. N. Ruiter; Sabine A. Fuchs; Niklas Darin; Carola Hedberg‐Oldfors; Luc Régal; Laura Donker Kaat; Hidde H. Huidekoper; Simon Olpin; Duncan Cole; Stuart J. Moat; Gepke Visser; Sacha Ferdinandusse
J Inherit Metab Dis
Academic Journal
Marit Schwantje; Sabine A. Fuchs; Lonneke de Boer; Annet M. Bosch; Inge Cuppen; Eugenie Dekkers; Terry G. J. Derks; Sacha Ferdinandusse; Lodewijk Ijlst; Riekelt H. Houtkooper; Rose Maase; W. Ludo van der Pol; Maaike C. de Vries; Rendelien K. Verschoof‐Puite; Ronald J. A. Wanders; Monique Williams; Frits Wijburg; Gepke Visser
J Inherit Metab Dis
Schwantje, M, Fuchs, S A, de Boer, L, Bosch, A M, Cuppen, I, Dekkers, E, Derks, T G J,Ferdinandusse , S, Ijlst, L, Houtkooper, R H, Maase, R, van der Pol, W L, de Vries, M C, Verschoof-Puite, R K, Wanders, R J A, Williams, M, Wijburg, F & Visser, G 2022, 'Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 804-818. https://doi.org/10.1002/jimd.12502
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818
Schwantje, M, Fuchs, S A, de Boer, L, Bosch, A M, Cuppen, I, Dekkers, E, Derks, T G J,
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818
Academic Journal
Florin Sasarman; Sacha Ferdinandusse; David S. Sinasac; Ernest Fung; Rebecca Sparkes; Melanie Reeves; Catherine Rombough; Jörn Oliver Sass; Renate Voit; Jos P. N. Ruiter; Janet Koster; Hans R. Waterham; Elisabetta Pasquini; Maria A. Donati; Thorsten Marquardt; Ronald J. A. Wanders; Walla Al‐Hertani
Sasarman, F, Ferdinandusse , S, Sinasac, D S, Fung, E, Sparkes, R, Reeves, M, Rombough, C, Sass, J R O, Voit, R, Ruiter, J P N, Koster, J, Waterham, H R, Pasquini, E, Donati, M A, Marquardt, T, Wanders, R J A & Al-Hertani, W 2022, '3-Hydroxyisobutyric acid dehydrogenase deficiency : Expanding the clinical spectrum and quantitation of D-and L-3-Hydroxyisobutyric acid by an LC–MS/MS method', Journal of Inherited Metabolic Disease, vol. 45, no. 3, pp. 445-455. https://doi.org/10.1002/jimd.12486
Academic Journal
지질·동맥경화학회지, 9(3), pp.313-333 Sep, 2020
Academic Journal
Marit Schwantje; Signe Mosegaard; Suzan J. G. Knottnerus; Jan Bert van Klinken; Ronald J. Wanders; Henk van Lenthe; Jill Hermans; Lodewijk IJlst; Simone W. Denis; Yorrick R. J. Jaspers; Sabine A. Fuchs; Riekelt H. Houtkooper; Sacha Ferdinandusse; Frédéric M. Vaz
The FASEB Journal. 38
Academic Journal
Richard G Lee; Shanti Balasubramaniam; Maike Stentenbach; Tom Kralj; Tim McCubbin; Benjamin Padman; Janine Smith; Lisa G Riley; Archana Priyadarshi; Liuyu Peng; Madison R Nuske; Richard Webster; Ken Peacock; Philip Roberts; Zornitza Stark; Gabrielle Lemire; Yoko A Ito; Kym M Boycott; Michael T Geraghty; Jan Bert van Klinken; Sacha Ferdinandusse; Ying Zhou; Rebecca Walsh; Esteban Marcellin; David R Thorburn; Tony Rosciolli; Janice Fletcher; Oliver Rackham; Frédéric M Vaz; Gavin E Reid; Aleksandra Filipovska
Hum Mol Genet
Academic Journal
Kelly M. Werner; Allison J. Cox; Emily Qian; Preti Jain; Weizhen Ji; Irina Tikhonova; Christopher Castaldi; Kaya Bilguvar; James Knight; Sacha Ferdinandusse; Rima Fawaz; Yong‐Hui Jiang; Patrick G. Gallagher; Matthew Bizzarro; Jeffrey R. Gruen; Allen Bale; Hui Zhang
American Journal of Medical Genetics Part A. 188:357-363
Academic Journal
Veenvliet, Annemarijne R.J. ; Garrelfs, Mark R. ; Udink ten Cate, Floris E.A. ; Ferdinandusse, Sacha ; Denis, Simone ; Fuchs, Sabine A. ; Schwantje, Marit ; Geurtzen, Rosa ; van Wegberg, Annemiek M.J. ; Huigen, Marleen C.D.G. ; Kluijtmans, Leo A.J. ; Wanders, Ronald J.A. ; Derks, Terry G.J. ; de Boer, Lonneke ; Houtkooper, Riekelt H. ; de Vries, Maaike C. ; van Karnebeek, Clara D.M.
In Molecular Genetics and Metabolism Reports June 2022 31
Academic Journal
Fatima Alabdulrazzaq; Talal Alanzi; Haya H. Al‐Balool; Alice Gardham; Emma Wakeling; Harry G. Leitch; Moeenaldeen AlSayed; Maha Abdulrahim; Abdulaziz Aladwani; Antonio Romito; Kapil Kampe; Sacha Ferdinandusse; Ashraf H. Aboelanine; Amira Abdullah; Amal Alwadani; Laila Bastaki; Frédéric M. Vaz; Aida M. Bertoli‐Avella; Dana Marafi
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Academic Journal
Sacha Ferdinandusse; Kirsty McWalter; Heleen te Brinke; Lodewijk IJlst; Petra M. Mooijer; Jos P.N. Ruiter; Alida E.M. van Lint; Mia Pras-Raves; Eric Wever; Francisca Millan; Maria J. Guillen Sacoto; Amber Begtrup; Mark Tarnopolsky; Lauren Brady; Roger L. Ladda; Susan L. Sell; Catherine B. Nowak; Jessica Douglas; Cuixia Tian; Elizabeth Ulm; Seth Perlman; Arlene V. Drack; Karen Chong; Nicole Martin; Jennifer Brault; Elly Brokamp; Camilo Toro; William A. Gahl; Ellen F. Macnamara; Lynne Wolfe; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao-Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Shweta U. Dhar; Lisa T. Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Jill A. Rosenfeld; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Rebecca C. Spillmann; Jennifer A. Sullivan; Queenie K.-G. Tan; Nicole M. Walley; Pankaj B. Agrawal; Alan H. Beggs; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Lance H. Rodan; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Chris A. Walsh; Cecilia Esteves; Emily G. Kelley; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Anna Nagy; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Peter Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Heather A. Colley; Jyoti G. Dayal; David J. Eckstein; Laurie C. Findley; Donna M. Krasnewich; Laura A. Mamounas; Teri A. Manolio; John J. Mulvihill; Grace L. LaMoure; Madison P. Goldrich; Tiina K. Urv; Argenia L. Doss; Maria T. Acosta; Carsten Bonnenmann; Precilla D’Souza; David D. Draper; Carlos Ferreira; Rena A. Godfrey; Catherine A. Groden; Valerie V. Maduro; Thomas C. Markello; Avi Nath; Donna Novacic; Barbara N. Pusey; Colleen E. Wahl; Eva Baker; Elizabeth A. Burke; David R. Adams; May Christine V. Malicdan; Cynthia J. Tifft; Lynne A. Wolfe; John Yang; Bradley Power; Bernadette Gochuico; Laryssa Huryn; Lea Latham; Joie Davis; Deborah Mosbrook-Davis; Francis Rossignol; Ben Solomon; John MacDowall; Audrey Thurm; Wadih Zein; Muhammad Yousef; Margaret Adam; Laura Amendola; Michael Bamshad; Anita Beck; Jimmy Bennett; Beverly Berg-Rood; Elizabeth Blue; Brenna Boyd; Peter Byers; Sirisak Chanprasert; Michael Cunningham; Katrina Dipple; Daniel Doherty; Dawn Earl; Ian Glass; Katie Golden-Grant; Sihoun Hahn; Anne Hing; Fuki M. Hisama; Martha Horike-Pyne; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Christina Lam; Kenneth Maravilla; Heather Mefford; J. Lawrence Merritt; Ghayda Mirzaa; Deborah Nickerson; Wendy Raskind; Natalie Rosenwasser; C. Ron Scott; Angela Sun; Virginia Sybert; Stephanie Wallace; Mark Wener; Tara Wenger; Euan A. Ashley; Gill Bejerano; Jonathan A. Bernstein; Devon Bonner; Terra R. Coakley; Liliana Fernandez; Paul G. Fisher; Laure Fresard; Jason Hom; Yong Huang; Jennefer N. Kohler; Elijah Kravets; Marta M. Majcherska; Beth A. Martin; Shruti Marwaha; Colleen E. McCormack; Archana N. Raja; Chloe M. Reuter; Maura Ruzhnikov; Jacinda B. Sampson; Kevin S. Smith; Shirley Sutton; Holly K. Tabor; Brianna M. Tucker; Matthew T. Wheeler; Diane B. Zastrow; Chunli Zhao; William E. Byrd; Andrew B. Crouse; Matthew Might; Mariko Nakano-Okuno; Jordan Whitlock; Gabrielle Brown; Manish J. Butte; Esteban C. Dell’Angelica; Naghmeh Dorrani; Emilie D. Douine; Brent L. Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K. Loo; Bryan C. Mak; Martin G. Martin; Julian A. Martínez-Agosto; Elisabeth McGee; Stanley F. Nelson; Shirley Nieves-Rodriguez; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Genecee Renteria; Rebecca H. Signer; Janet S. Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Jeremy D. Woods; Justin Alvey; Ashley Andrews; Jim Bale; John Bohnsack; Lorenzo Botto; John Carey; Laura Pace; Nicola Longo; Gabor Marth; Paolo Moretti; Aaron Quinlan; Matt Velinder; Dave Viskochil; Pinar Bayrak-Toydemir; Rong Mao; Monte Westerfield; Anna Bican; Laura Duncan; Rizwan Hamid; Jennifer Kennedy; Mary Kozuira; John H. Newman; John A. Phillips; Lynette Rives; Amy K. Robertson; Emily Solem; Joy D. Cogan; F. Sessions Cole; Nichole Hayes; Dana Kiley; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Stephen Pak; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel; Quinten Waisfisz; Petra J.G. Zwijnenburg; Alban Ziegler; Magalie Barth; Rosemarie Smith; Sara Ellingwood; Deborah Gaebler-Spira; Somayeh Bakhtiari; Michael C. Kruer; Antoine H.C. van Kampen; Ronald J.A. Wanders; Hans R. Waterham; David Cassiman; Frédéric M. Vaz
Genet Med
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Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 4
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 4
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