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American journal of ophthalmology, 2024-02, Vol.258, p.183-195
- Patterson, Karynne
- Chong, Jessica X
- Chung, Doug D
- Lisch, Walter
- Karp, Carol L
- Dreisler, Erling
- Lockington, David
- Rohrbach, Jens M
- Garczarczyk-Asim, Dorota
- Müller, Thomas
- Tuft, Stephen J
- Skalicka, Pavlina
- Wilnai, Yael
- Samra, Nadra Naser
- Ibrahim, Ali
- Mandel, Hanna
- Davidson, Alice E
- Liskova, Petra
- Aldave, Anthony J
- Bamshad, Michael J
- Janecke, Andreas R
2024
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JAMA network open, 2023-12, Vol.6 (12), p.e2346373-e2346373
2023
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Nature human behaviour, 2023-04, Vol.7 (4), p.484
2023
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Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.232-242
- Daas, Suha
- Abu Salah, Nasser
- Anikster, Yair
- Barel, Ortal
- Damseh, Nadirah S.
- Dumin, Elena
- Fattal‐Valevski, Aviva
- Falik‐Zaccai, Tzipora C.
- Habib, Clair
- Josefsberg, Sagi
- Korman, Stanley H.
- Kneller, Katya
- Landau, Yuval
- Lerman‐Sagie, Tally
- Mandel, Hanna
- Manor, Yehoshua
- Moady Abdalla, Tameemi
- Rock, Rachel
- Rostami, Nira
- Saada, Ann
- Saraf‐Levy, Talya
- Shaul Lotan, Nava
- Spiegel, Ronen
- Staretz‐Chacham, Orna
- Tal, Galit
- Ulanovsky, Igor
- Vaisid, Taly
- Wilnai, Yael
- Almashanu, Shlomo
2023
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Human molecular genetics, 2022-12, Vol.31 (24), p.4121-4130
2022
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Annals of neurology, 2022-08, Vol.92 (2), p.279-291
- Mandel‐Brehm, Caleigh
- Benson, Leslie A.
- Tran, Baouyen
- Kung, Andrew F.
- Mann, Sabrina A.
- Vazquez, Sara E.
- Retallack, Hanna
- Sample, Hannah A.
- Zorn, Kelsey C.
- Khan, Lillian M.
- Kerr, Lauren M.
- McAlpine, Patrick L.
- Zhang, Lichao
- McCarthy, Frank
- Elias, Joshua E.
- Katwa, Umakanth
- Astley, Christina M.
- Tomko, Stuart
- Dalmau, Josep
- Seeley, William W.
- Pleasure, Samuel J.
- Wilson, Michael R.
- Gorman, Mark P.
- DeRisi, Joseph L.
2022
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Molecular genetics & genomic medicine, 2022-01, Vol.10 (1), p.e1849-n/a
2022
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Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.606-617
- Staretz‐Chacham, Orna
- Daas, Suha
- Ulanovsky, Igor
- Blau, Ayala
- Rostami, Nira
- Saraf‐Levy, Talya
- Abu Salah, Nasser
- Anikster, Yair
- Banne, Ehud
- Dar, Dalit
- Dumin, Elena
- Fattal‐Valevski, Aviva
- Falik‐Zaccai, Tzipora
- Hershkovitz, Eli
- Josefsberg, Sagi
- Khammash, Hatem
- Keidar, Rimona
- Korman, Stanley H.
- Landau, Yuval
- Lerman‐Sagie, Tally
- Mandel, Dror
- Mandel, Hanna
- Marom, Ronella
- Morag, Iris
- Nadir, Erez
- Yosha‐Orpaz, Naama
- Pode‐Shakked, Ben
- Pras, Elon
- Reznik‐Wolf, Haike
- Saada, Ann
- Segel, Reeval
- Shaag, Avraham
- Shaul Lotan, Nava
- Spiegel, Ronen
- Tal, Galit
- Vaisid, Taly
- Zeharia, Avi
- Almashanu, Shlomo
2021
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Journal of inherited metabolic disease, 2021-03, Vol.44 (2), p.376-387
- Hirano, Michio
- Carelli, Valerio
- De Giorgio, Roberto
- Pironi, Loris
- Accarino, Anna
- Cenacchi, Giovanna
- D'Alessandro, Roberto
- Filosto, Massimiliano
- Martí, Ramon
- Nonino, Francesco
- Pinna, Antonio Daniele
- Baldin, Elisa
- Bax, Bridget Elizabeth
- Bolletta, Alessio
- Bolletta, Riccardo
- Boschetti, Elisa
- Cescon, Matteo
- D'Angelo, Roberto
- Dotti, Maria Teresa
- Giordano, Carla
- Gramegna, Laura Ludovica
- Levene, Michelle
- Lodi, Raffaele
- Mandel, Hanna
- Morelli, Maria Cristina
- Musumeci, Olimpia
- Pugliese, Alessia
- Scarpelli, Mauro
- Siniscalchi, Antonio
- Spinazzola, Antonella
- Tal, Galit
- Torres‐Torronteras, Javier
- Vignatelli, Luca
- Zaidman, Irina
- Zoller, Heinz
- Rinaldi, Rita
- Zeviani, Massimo
2021
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European journal of medical genetics, 2020-11, Vol.63 (11), p.104020, Article 104020
2020
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International journal of molecular sciences, 2020-10, Vol.21 (21), p.8040
2020
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Brain (London, England : 1878), 2019-12, Vol.142 (12), p.3876-3891
- Esposito, Alessandro
- Falace, Antonio
- Wagner, Matias
- Gal, Moran
- Mei, Davide
- Conti, Valerio
- Pisano, Tiziana
- Aprile, Davide
- Cerullo, Maria Sabina
- De Fusco, Antonio
- Giovedì, Silvia
- Seibt, Annette
- Magen, Daniella
- Polster, Tilman
- Eran, Ayelet
- Stenton, Sarah L
- Fiorillo, Chiara
- Ravid, Sarit
- Mayatepek, Ertan
- Hafner, Hava
- Wortmann, Saskia
- Levanon, Erez Y
- Marini, Carla
- Mandel, Hanna
- Benfenati, Fabio
- Distelmaier, Felix
- Fassio, Anna
- Guerrini, Renzo
2019
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Neurology, 2019-07, Vol.93 (5), p.e433
- Mandel-Brehm, Caleigh
- Retallack, Hanna
- Knudsen, Giselle M
- Yamana, Alex
- Hajj-Ali, Rula A
- Calabrese, Leonard H
- Tihan, Tarik
- Sample, Hannah A
- Zorn, Kelsey C
- Gorman, Mark P
- Madan Cohen, Jennifer
- Sreih, Antoine G
- Marcus, Jacqueline F
- Josephson, S Andrew
- Douglas, Vanja C
- Gelfand, Jeffrey M
- Wilson, Michael R
- DeRisi, Joseph L
2019
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Journal of human genetics, 2019-06, Vol.64 (6), p.589-595
2019
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Metabolic brain disease, 2019-04, Vol.34 (2), p.557-563
2019
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American journal of human genetics, 2019-02, Vol.104 (2), p.203-212
- Platzer, Konrad
- Sticht, Heinrich
- Edwards, Stacey L.
- Allen, William
- Angione, Kaitlin M.
- Bonati, Maria T.
- Brasington, Campbell
- Cho, Megan T.
- Demmer, Laurie A.
- Falik-Zaccai, Tzipora
- Gamble, Candace N.
- Hellenbroich, Yorck
- Iascone, Maria
- Kok, Fernando
- Mahida, Sonal
- Mandel, Hanna
- Marquardt, Thorsten
- McWalter, Kirsty
- Panis, Bianca
- Pepler, Alexander
- Pinz, Hailey
- Ramos, Luiza
- Shinde, Deepali N.
- Smith-Hicks, Constance
- Stegmann, Alexander P.A.
- Stöbe, Petra
- Stumpel, Constance T.R.M.
- Wilson, Carolyn
- Lemke, Johannes R.
- Di Donato, Nataliya
- Miller, Kenneth G.
- Jamra, Rami
2019
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Journal of lipid research, 2018-11, Vol.59 (11), p.2214-2222
2018
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Nature communications, 2018-10, Vol.9 (1), p.4065
- Friederich, Marisa W
- Timal, Sharita
- Powell, Christopher A
- Dallabona, Cristina
- Kurolap, Alina
- Palacios-Zambrano, Sara
- Bratkovic, Drago
- Derks, Terry G J
- Bick, David
- Bouman, Katelijne
- Chatfield, Kathryn C
- Damouny-Naoum, Nadine
- Dishop, Megan K
- Falik-Zaccai, Tzipora C
- Fares, Fuad
- Fedida, Ayalla
- Ferrero, Ileana
- Gallagher, Renata C
- Garesse, Rafael
- Gilberti, Micol
- González, Cristina
- Gowan, Katherine
- Habib, Clair
- Halligan, Rebecca K
- Kalfon, Limor
- Knight, Kaz
- Lefeber, Dirk
- Mamblona, Laura
- Mandel, Hanna
- Mory, Adi
- Ottoson, John
- Paperna, Tamar
- Pruijn, Ger J M
- Rebelo-Guiomar, Pedro F
- Saada, Ann
- Sainz, Jr, Bruno
- Salvemini, Hayley
- Schoots, Mirthe H
- Smeitink, Jan A
- Szukszto, Maciej J
- Ter Horst, Hendrik J
- van den Brandt, Frans
- van Spronsen, Francjan J
- Veltman, Joris A
- Wartchow, Eric
- Wintjes, Liesbeth T
- Zohar, Yaniv
- Fernández-Moreno, Miguel A
- Baris, Hagit N
- Donnini, Claudia
- Minczuk, Michal
- Rodenburg, Richard J
- Van Hove, Johan L K
2018
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European journal of paediatric neurology, 2018-05, Vol.22 (3), p.525-531
2018
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Human mutation, 2018-04, Vol.39 (4), p.563-578
- Bruni, Francesco
- Di Meo, Ivano
- Bellacchio, Emanuele
- Webb, Bryn D.
- McFarland, Robert
- Chrzanowska‐Lightowlers, Zofia M.A.
- He, Langping
- Skorupa, Ewa
- Moroni, Isabella
- Ardissone, Anna
- Walczak, Anna
- Tyynismaa, Henna
- Isohanni, Pirjo
- Mandel, Hanna
- Prokisch, Holger
- Haack, Tobias
- Bonnen, Penelope E.
- Bertini, Enrico
- Pronicka, Ewa
- Ghezzi, Daniele
- Taylor, Robert W.
- Diodato, Daria
2018
Link zum Volltext
Cell, 2018-02, Vol.172 (5), p.952-965.e18
- Zhang, Shen-Ying
- Clark, Nathaniel E.
- Freije, Catherine A.
- Pauwels, Elodie
- Taggart, Allison J.
- Okada, Satoshi
- Mandel, Hanna
- Garcia, Paula
- Ciancanelli, Michael J.
- Biran, Anat
- Lafaille, Fabien G.
- Tsumura, Miyuki
- Cobat, Aurélie
- Luo, Jingchuan
- Volpi, Stefano
- Zimmer, Bastian
- Sakata, Sonoko
- Dinis, Alexandra
- Ohara, Osamu
- Garcia Reino, Eduardo J.
- Dobbs, Kerry
- Hasek, Mary
- Holloway, Stephen P.
- McCammon, Karen
- Hussong, Stacy A.
- DeRosa, Nicholas
- Van Skike, Candice E.
- Katolik, Adam
- Lorenzo, Lazaro
- Hyodo, Maki
- Faria, Emilia
- Halwani, Rabih
- Fukuhara, Rie
- Smith, Gregory A.
- Galvan, Veronica
- Damha, Masad J.
- Al-Muhsen, Saleh
- Itan, Yuval
- Boeke, Jef D.
- Notarangelo, Luigi D.
- Studer, Lorenz
- Kobayashi, Masao
- Diogo, Luisa
- Fairbrother, William G.
- Abel, Laurent
- Rosenberg, Brad R.
- Hart, P. John
- Etzioni, Amos
- Casanova, Jean-Laurent
2018
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Journal of cellular and molecular medicine, 2018-02, Vol.22 (2), p.913-925
2018
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Journal of lipid research, 2018, Vol.59 (6), p.1015-1026
2018
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American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2461-2466
2017
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The New England journal of medicine, 2017-07, Vol.377 (1), p.87-89
- Kurolap, Alina
- Eshach-Adiv, Orly
- Hershkovitz, Tova
- Paperna, Tamar
- Mory, Adi
- Oz-Levi, Danit
- Zohar, Yaniv
- Mandel, Hanna
- Chezar, Judith
- Azoulay, David
- Peleg, Sarit
- Half, Elizabeth E
- Yahalom, Vered
- Finkel, Lilach
- Weissbrod, Omer
- Geiger, Dan
- Tabib, Adi
- Shaoul, Ron
- Magen, Daniella
- Bonstein, Lilach
- Mevorach, Dror
- Baris, Hagit N
2017
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