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Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.107-116
2019
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Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1
2020
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Journal of inherited metabolic disease, 2015-01, Vol.38 (1), p.85-98
2015
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JIMD reports, 2022-01, Vol.63 (1), p.3-10
2022
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Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1397
- Parikh, Sumit
- Goldstein, Amy
- Karaa, Amel
- Koenig, Mary Kay
- Anselm, Irina
- Brunel-Guitton, Catherine
- Christodoulou, John
- Cohen, Bruce H
- Dimmock, David
- Enns, Gregory M
- Falk, Marni J
- Feigenbaum, Annette
- Frye, Richard E
- Ganesh, Jaya
- Griesemer, David
- Haas, Richard
- Horvath, Rita
- Korson, Mark
- Kruer, Michael C
- Mancuso, Michelangelo
- McCormack, Shana
- Raboisson, Marie Josee
- Reimschisel, Tyler
- Salvarinova, Ramona
- Saneto, Russell P
- Scaglia, Fernando
- Shoffner, John
- Stacpoole, Peter W
- Sue, Carolyn M
- Tarnopolsky, Mark
- Van Karnebeek, Clara
- Wolfe, Lynne A
- Cunningham, Zarazuela Zolkipli
- Rahman, Shamima
- Chinnery, Patrick F
2017
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Journal of Inherited Metabolic Disease, 2016-03, Vol.39 (2), p.173-188
2016
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Canadian journal of cardiology, 2015-11, Vol.31 (11), p.1360-1376
2015
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Human mutation, 2015-01, Vol.36 (1), p.69-78
- Lee, Jae-Ran
- Srour, Myriam
- Kim, Doyoun
- Hamdan, Fadi. F.
- Lim, So-Hee
- Brunel-Guitton, Catherine
- Décarie, Jean-Claude
- Rossignol, Elsa
- Mitchell, Grant A.
- Schreiber, Allison
- Moran, Rocio
- Van Haren, Keith
- Richardson, Randal
- Nicolai, Joost
- Oberndorff, Karin M.E.J.
- Wagner, Justin D.
- Boycott, Kym M.
- Rahikkala, Elisa
- Junna, Nella
- Tyynismaa, Henna
- Cuppen, Inge
- Verbeek, Nienke E.
- Stumpel, Connie T.R.M.
- Willemsen, Michel A.
- de Munnik, Sonja A.
- Rouleau, Guy A.
- Kim, Eunjoon
- Kamsteeg, Erik-Jan
- Kleefstra, Tjitske
- Michaud, Jacques L.
2015
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The Journal of pediatrics, 2017-05, Vol.184, p.227-229.e1
2017
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Molecular genetics and metabolism reports, 2023-06, Vol.35, p.100961, Article 100961
2023
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Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.409-412
2010
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Molecular genetics and metabolism reports, 2019-03, Vol.18, p.32-38
2019
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Molecular genetics and metabolism reports, 2017-06, Vol.11 (C), p.24-29
2017
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Molecular genetics and metabolism reports, 2019-06, Vol.19, p.100472-100472, Article 100472
2019
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Journal of medical genetics, 2017-04, Vol.54 (4), p.241
2017
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Human molecular genetics, 2015-07, Vol.24 (14), p.4103-4113
2015
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Hepatic medicine: evidence and research, 2018-01, Vol.10, p.105-115
2018
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Molecular biology of the cell, 2010-04, Vol.21 (8), p.1315-1323
2010
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Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108345-108345, Article 108345
2024
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The Journal of pediatrics, 2017-08, Vol.187, p.334-335
2017
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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
Link zum Volltext
Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1381
- Parikh, Sumit
- Goldstein, Amy
- Karaa, Amel
- Koenig, Mary Kay
- Anselm, Irina
- Brunel-Guitton, Catherine
- Christodoulou, John
- Cohen, Bruce H
- Dimmock, David
- Enns, Gregory M
- Falk, Marni J
- Feigenbaum, Annette
- Frye, Richard E
- Ganesh, Jaya
- Griesemer, David
- Haas, Richard
- Horvath, Rita
- Korson, Mark
- Kruer, Michael C
- Mancuso, Michelangelo
- McCormack, Shana
- Josee Raboisson, Marie
- Reimschisel, Tyler
- Salvarinova, Ramona
- Saneto, Russell P
- Scaglia, Fernando
- Shoffner, John
- Stacpoole, Peter W
- Sue, Carolyn M
- Tarnopolsky, Mark
- Van Karnebeek, Clara
- Wolfe, Lynne A
- Zolkipli Cunningham, Zarazuela
- Rahman, Shamima
- Chinnery, Patrick F
2017
Link zum Volltext
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
Link zum Volltext
Journal of inherited metabolic disease, 2018-06, p.1-10
2018
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Advances in experimental medicine and biology, 2017, Vol.959, p.187-195
- Alvarez, Fernando
- Atkinson, Suzanne
- Bouchard, Manon
- Brunel-Guitton, Catherine
- Buhas, Daniela
- Bussières, Jean-François
- Dubois, Josée
- Fenyves, Daphna
- Goodyer, Paul
- Gosselin, Martyne
- Halac, Ugur
- Labbé, Patrick
- Laframboise, Rachel
- Maranda, Bruno
- Melançon, Serge
- Merouani, Aicha
- Mitchell, Grant A.
- Mitchell, John
- Parizeault, Guy
- Pelletier, Luc
- Phan, Véronique
- Turcotte, Jean-François
2017
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