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Genetics in medicine, 2020-06, Vol.22 (6), p.1102-1107
2020
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Annals of neurology, 2015-10, Vol.78 (4), p.649-658
2015
Link zum Volltext
Frontiers in neurology, 2019-05, Vol.10, p.434-434
- Demos, Michelle
- Guella, Ilaria
- DeGuzman, Conrado
- McKenzie, Marna B
- Buerki, Sarah E
- Evans, Daniel M
- Toyota, Eric B
- Boelman, Cyrus
- Huh, Linda L
- Datta, Anita
- Michoulas, Aspasia
- Selby, Kathryn
- Bjornson, Bruce H
- Horvath, Gabriella
- Lopez-Rangel, Elena
- van Karnebeek, Clara D M
- Salvarinova, Ramona
- Slade, Erin
- Eydoux, Patrice
- Adam, Shelin
- Van Allen, Margot I
- Nelson, Tanya N
- Bolbocean, Corneliu
- Connolly, Mary B
- Farrer, Matthew J
2019
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BMC pediatrics, 2024-01, Vol.24 (1), p.37-37, Article 37
- Iverson, Ryan
- Taljaard, Monica
- Geraghty, Michael T
- Pugliese, Michael
- Tingley, Kylie
- Coyle, Doug
- Kronick, Jonathan B
- Wilson, Kumanan
- Austin, Valerie
- Brunel-Guitton, Catherine
- Buhas, Daniela
- Butcher, Nancy J
- Chan, Alicia K J
- Dyack, Sarah
- Goobie, Sharan
- Greenberg, Cheryl R
- Jain-Ghai, Shailly
- Inbar-Feigenberg, Michal
- Karp, Natalya
- Kozenko, Mariya
- Langley, Erica
- Lines, Matthew
- Little, Julian
- MacKenzie, Jennifer
- Maranda, Bruno
- Mercimek-Andrews, Saadet
- Mhanni, Aizeddin
- Mitchell, John J
- Nagy, Laura
- Offringa, Martin
- Pender, Amy
- Potter, Murray
- Prasad, Chitra
- Ratko, Suzanne
- Salvarinova, Ramona
- Schulze, Andreas
- Siriwardena, Komudi
- Sondheimer, Neal
- Sparkes, Rebecca
- Stockler-Ipsiroglu, Sylvia
- Tapscott, Kendra
- Trakadis, Yannis
- Turner, Lesley
- Van Karnebeek, Clara
- Vandersteen, Anthony
- Walia, Jagdeep S
- Wilson, Brenda J
- Yu, Andrea C
- Potter, Beth K
- Chakraborty, Pranesh
2024
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Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100880-100880, Article 100880
2022
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Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.89-89, Article 89
- Tingley, Kylie
- Lamoureux, Monica
- Pugliese, Michael
- Geraghty, Michael T
- Kronick, Jonathan B
- Potter, Beth K
- Coyle, Doug
- Wilson, Kumanan
- Kowalski, Michael
- Austin, Valerie
- Brunel-Guitton, Catherine
- Buhas, Daniela
- Chan, Alicia K J
- Dyack, Sarah
- Feigenbaum, Annette
- Giezen, Alette
- Goobie, Sharan
- Greenberg, Cheryl R
- Ghai, Shailly Jain
- Inbar-Feigenberg, Michal
- Karp, Natalya
- Kozenko, Mariya
- Langley, Erica
- Lines, Matthew
- Little, Julian
- MacKenzie, Jennifer
- Maranda, Bruno
- Mercimek-Andrews, Saadet
- Mohan, Connie
- Mhanni, Aizeddin
- Mitchell, Grant
- Mitchell, John J
- Nagy, Laura
- Napier, Melanie
- Pender, Amy
- Potter, Murray
- Prasad, Chitra
- Ratko, Suzanne
- Salvarinova, Ramona
- Schulze, Andreas
- Siriwardena, Komudi
- Sondheimer, Neal
- Sparkes, Rebecca
- Stockler-Ipsiroglu, Sylvia
- Trakadis, Yannis
- Turner, Lesley
- Van Karnebeek, Clara
- Vallance, Hilary
- Vandersteen, Anthony
- Walia, Jagdeep
- Wilson, Ashley
- Wilson, Brenda J
- Yu, Andrea C
- Yuskiv, Nataliya
- Chakraborty, Pranesh
2020
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Molecular genetics and metabolism reports, 2023-06, Vol.35, p.100961, Article 100961
2023
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Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100763-100763, Article 100763
2021
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HGG advances, 2022-07, Vol.3 (3), p.100108-100108, Article 100108
- Elliott, Alison M.
- Adam, Shelin
- du Souich, Christèle
- Lehman, Anna
- Nelson, Tanya N.
- van Karnebeek, Clara
- Alderman, Emily
- Armstrong, Linlea
- Aubertin, Gudrun
- Blood, Katherine
- Boelman, Cyrus
- Boerkoel, Cornelius
- Bretherick, Karla
- Brown, Lindsay
- Chijiwa, Chieko
- Clarke, Lorne
- Couse, Madeline
- Creighton, Susan
- Watts-Dickens, Abby
- Gibson, William T.
- Gill, Harinder
- Tarailo-Graovac, Maja
- Hamilton, Sara
- Heran, Harindar
- Horvath, Gabriella
- Huang, Lijia
- Hulait, Gurdip K.
- Koehn, David
- Lee, Hyun Kyung
- Lewis, Suzanne
- Lopez, Elena
- Louie, Kristal
- Niederhoffer, Karen
- Matthews, Allison
- Meagher, Kirsten
- Peng, Junran J.
- Patel, Millan S.
- Race, Simone
- Richmond, Phillip
- Rupps, Rosemarie
- Salvarinova, Ramona
- Seath, Kimberly
- Selby, Kathryn
- Steinraths, Michelle
- Stockler, Sylvia
- Tang, Kaoru
- Tyson, Christine
- van Allen, Margot
- Wasserman, Wyeth
- Mwenifumbo, Jill
- Friedman, Jan M.
2022
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Mitochondrion, 2013-11, Vol.13 (6), p.681-687
2013
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Ophthalmology (Rochester, Minn.), 2020-06, Vol.127 (6), p.813-813
2020
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The New England journal of medicine, 2016-06, Vol.374 (23), p.2246-2255
- Tarailo-Graovac, Maja
- Shyr, Casper
- Ross, Colin J
- Horvath, Gabriella A
- Salvarinova, Ramona
- Ye, Xin C
- Zhang, Lin-Hua
- Bhavsar, Amit P
- Lee, Jessica J.Y
- Drögemöller, Britt I
- Abdelsayed, Mena
- Alfadhel, Majid
- Armstrong, Linlea
- Baumgartner, Matthias R
- Burda, Patricie
- Connolly, Mary B
- Cameron, Jessie
- Demos, Michelle
- Dewan, Tammie
- Dionne, Janis
- Evans, A. Mark
- Friedman, Jan M
- Garber, Ian
- Lewis, Suzanne
- Ling, Jiqiang
- Mandal, Rupasri
- Mattman, Andre
- McKinnon, Margaret
- Michoulas, Aspasia
- Metzger, Daniel
- Ogunbayo, Oluseye A
- Rakic, Bojana
- Rozmus, Jacob
- Ruben, Peter
- Sayson, Bryan
- Santra, Saikat
- Schultz, Kirk R
- Selby, Kathryn
- Shekel, Paul
- Sirrs, Sandra
- Skrypnyk, Cristina
- Superti-Furga, Andrea
- Turvey, Stuart E
- Van Allen, Margot I
- Wishart, David
- Wu, Jiang
- Wu, John
- Zafeiriou, Dimitrios
- Kluijtmans, Leo
- Wevers, Ron A
- Eydoux, Patrice
- Lehman, Anna M
- Vallance, Hilary
- Stockler-Ipsiroglu, Sylvia
- Sinclair, Graham
- Wasserman, Wyeth W
- van Karnebeek, Clara D
2016
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The Journal of nutrition, 2017-02, Vol.147 (2), p.211-217
2017
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American journal of human genetics, 2022-05, Vol.109 (5), p.944-952
- Rahimi, Meer Jacob
- Urban, Nicole
- Wegler, Meret
- Sticht, Heinrich
- Schaefer, Michael
- Popp, Bernt
- Gaunitz, Frank
- Morleo, Manuela
- Nigro, Vincenzo
- Maitz, Silvia
- Mancini, Grazia M S
- Ruivenkamp, Claudia
- Suk, Eun-Kyung
- Bartolomaeus, Tobias
- Merkenschlager, Andreas
- Koboldt, Daniel
- Bartholomew, Dennis
- Stegmann, Alexander P A
- Sinnema, Margje
- Duynisveld, Irma
- Salvarinova, Ramona
- Race, Simone
- de Vries, Bert B A
- Trimouille, Aurélien
- Naudion, Sophie
- Marom, Daphna
- Hamiel, Uri
- Henig, Noa
- Demurger, Florence
- Rahner, Nils
- Bartels, Enrika
- Hamm, J Austin
- Putnam, Abbey M
- Person, Richard
- Abou Jamra, Rami
- Oppermann, Henry
2022
Link zum Volltext
Genetics in medicine, 2019-07, Vol.21 (7), p.1621-1628
- Matthews, Allison M.
- Blydt-Hansen, Ingrid
- Al-Jabri, Basmah
- Andersen, John
- Tarailo-Graovac, Maja
- Price, Magda
- Selby, Katherine
- Demos, Michelle
- Connolly, Mary
- Drögemoller, Britt
- Shyr, Casper
- Mwenifumbo, Jill
- Elliott, Alison M.
- Lee, Jessica
- Ghani, Aisha
- Stöckler, Sylvia
- Salvarinova, Ramona
- Vallance, Hilary
- Sinclair, Graham
- Ross, Colin J.
- Wasserman, Wyeth W.
- McKinnon, Margaret L.
- Horvath, Gabriella A.
- Goez, Helly
- van Karnebeek, Clara D.
2019
Link zum Volltext
The Journal of nutrition, 2017-02, Vol.147 (2), p.211-217
2017
Link zum Volltext
The Journal of clinical investigation, 2021-06, Vol.131 (12)
- Lausberg, Eva
- Gießelmann, Sebastian
- Dewulf, Joseph P
- Wiame, Elsa
- Holz, Anja
- Salvarinova, Ramona
- van Karnebeek, Clara D
- Klemm, Patricia
- Ohl, Kim
- Mull, Michael
- Braunschweig, Till
- Weis, Joachim
- Sommer, Clemens J
- Demuth, Stephanie
- Haase, Claudia
- Stollbrink-Peschgens, Claudia
- Debray, François-Guillaume
- Libioulle, Cecile
- Choukair, Daniela
- Oommen, Prasad T
- Borkhardt, Arndt
- Surowy, Harald
- Wieczorek, Dagmar
- Wagner, Norbert
- Meyer, Robert
- Eggermann, Thomas
- Begemann, Matthias
- Van Schaftingen, Emile
- Häusler, Martin
- Tenbrock, Klaus
- van den Heuvel, Lambert
- Elbracht, Miriam
- Kurth, Ingo
- Kraft, Florian
2021
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Current developments in nutrition, 2020-06, Vol.4 (Supplement_2), p.1149-1149, Article nzaa055_034
2020
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Journal of child neurology, 2017-03, Vol.32 (4), p.403-407
2017
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Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100880
2022
Link zum Volltext
The Journal of clinical investigation, 2021-06, Vol.131 (12), p.1-12
- Lausberg, Eva
- Gießelmann, Sebastian
- Dewulf, Joseph P
- Wiame, Elsa
- Holz, Anja
- Salvarinova, Ramona
- Van karnebeek, Clara D
- Klemm, Patricia
- Ohl, Kim
- Mull, Michael
- Braunschweig, Till
- Weis, Joachim
- Sommer, Clemens J
- Demuth, Stephanie
- Haase, Claudia
- Stollbrink-Peschgens, Claudia
- Debray, François-Guillaume
- Libioulle, Cecile
- Choukair, Daniela
- Oommen, Prasad T
- Borkhardt, Arndt
- Surowy, Harald
- Wieczorek, Dagmar
- Wagner, Norbert
- Meyer, Robert
- Eggermann, Thomas
- Begemann, Matthias
- Van Schaftingen, Emile
- Häusler, Martin
- Tenbrock, Klaus
- van Den Heuvel, Lambert
- Elbracht, Miriam
- Kurth, Ingo
- Kraft, Florian
2021
Link zum Volltext
American journal of human genetics, 2014-03, Vol.94 (3), p.453-461
- van Karnebeek, Clara D.
- Sly, William S.
- Ross, Colin J.
- Salvarinova, Ramona
- Yaplito-Lee, Joy
- Santra, Saikat
- Shyr, Casper
- Horvath, Gabriella A.
- Eydoux, Patrice
- Lehman, Anna M.
- Bernard, Virginie
- Newlove, Theresa
- Ukpeh, Henry
- Chakrapani, Anupam
- Preece, Mary Anne
- Ball, Sarah
- Pitt, James
- Vallance, Hilary D.
- Coulter-Mackie, Marion
- Nguyen, Hien
- Zhang, Lin-Hua
- Bhavsar, Amit P.
- Sinclair, Graham
- Waheed, Abdul
- Wasserman, Wyeth W.
- Stockler-Ipsiroglu, Sylvia
2014
Link zum Volltext
Clinical biochemistry, 2014-10, Vol.47 (15), p.145-145
2014
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Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.553-564
- Vals, Mari‐Anne
- Ashikov, Angel
- Ilves, Pilvi
- Loorits, Dagmar
- Zeng, Qiang
- Barone, Rita
- Huijben, Karin
- Sykut‐Cegielska, Jolanta
- Diogo, Luísa
- Elias, Abdallah F.
- Greenwood, Robert S.
- Grunewald, Stephanie
- van Hasselt, Peter M.
- van de Kamp, Jiddeke M.
- Mancini, Grazia
- Okninska, Agnieszka
- Pajusalu, Sander
- Rudd, Pauline M.
- Rustad, Cecilie F.
- Salvarinova, Ramona
- de Vries, Bert B.A.
- Wolf, Nicole I.
- Ng, Bobby G.
- Freeze, Hudson H.
- Lefeber, Dirk J.
- Õunap, Katrin
2019
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Molecular genetics and metabolism, 2015-03, Vol.114 (3), p.409-414
2015
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