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Annals of neurology, 2023-10, Vol.94 (4), p.696-712
2023
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Marine mammal science, 2019-04, Vol.35 (2), p.637-640
2019
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Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100638, Article 100638
2020
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Annals of neurology, 2018-01, Vol.83 (1), p.153-165
2018
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Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.987-1000
- Alsharhan, Hind
- Ng, Bobby G.
- Daniel, Earnest James Paul
- Friedman, Jennifer
- Pivnick, Eniko K.
- Al‐Hashem, Amal
- Faqeih, Eissa Ali
- Liu, Pengfei
- Engelhardt, Nicole M.
- Keller, Kierstin N.
- Chen, Jie
- Mazzeo, Pamela A.
- Rosenfeld, Jill A.
- Bamshad, Michael J.
- Nickerson, Deborah A.
- Raymond, Kimiyo M.
- Freeze, Hudson H.
- He, Miao
- Edmondson, Andrew C.
- Lam, Christina
2021
Link zum Volltext
Genes, 2024-07, Vol.15 (7), p.867
- Muraresku, Colleen C.
- McCormick, Elizabeth M.
- Rockart, Lydia
- Blaine Crowley, T.
- Asher, Stephanie
- Back, Amanda
- Baldino, Sarah M.
- Bedoukian, Emma
- Britt, Allison D.
- Burrill, Natalie
- Cacioppo, Cara
- Clark, Dana Farengo
- Clark, Mary Egan
- Conway, Laura
- Dratch, Laynie
- Dubbs, Holly A.
- Engelhardt, Nicole M.
- Ginn, Natalie
- Gray, Christopher
- Hartman, Tiff
- Hathaway, Evan R.
- Helbig, Katherine L.
- Hoffman-Andrews, Lily
- Kasperski, Stefanie
- Keena, Beth A.
- Keller, Kierstin N.
- Long, Jessica M.
- Lulis, Lauren
- Lusk, Laina
- McGinn, Daniel E.
- Mueller, Rebecca
- Paul, Rache A.
- Pilchman, Lisa
- Powers, Jacquelyn
- Raible, Sarah E.
- Reichert, Sara
- Rippert, Alyssa L.
- Arnold, Angela G.
- Ruggiero, Sarah M.
- Schindewolf, Erica
- Sullivan, Katie Rose
- Terek, Shannon
- Wang, Bekah
- Wells, McKenzie
- Wisniewski, Natalia
- Wright, Renee
- Wood, Elisabeth McCarty
- Woyciechowski, Stacy
- Zelley, Kristin
- Valverde, Kathleen D.
- McDonald-McGinn, Donna M.
2024
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A case of SAH hydrolase deficiency confirmed with metabolomic testing and expansion of the phenotype
2024
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Genetics in medicine, 2022-03, Vol.24 (3), p.S14-S14
2022
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Proceedings of the National Academy of Sciences - PNAS, 2022-11, Vol.119 (45), p.e2212417119-e2212417119
2022
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Molecular genetics and metabolism, 2024-08, Vol.142 (4), p.108509, Article 108509
- Lam, Christina
- Scaglia, Fernando
- Berry, Gerard T.
- Larson, Austin
- Sarafoglou, Kyriakie
- Andersson, Hans C.
- Sklirou, Evgenia
- Tan, Queenie K.G.
- Starosta, Rodrigo T.
- Sadek, Mustafa
- Wolfe, Lynne
- Horikoshi, Seishu
- Ali, May
- Barone, Rita
- Campbell, Teresa
- Chang, Irene J.
- Coles, Kiaira
- Cook, Edward
- Eklund, Erik A.
- Engelhardt, Nicole M.
- Freeman, Mary
- Friedman, Jennifer
- Fu, Debbie Y.T.
- Botzo, Grace
- Rawls, Brandy
- Hernandez, Christien
- Johnsen, Christin
- Keller, Kierstin
- Kramer, Sara
- Kuschel, Bryce
- Leshinski, Angela
- Martinez-Duncker, Ivan
- Mazza, Gina L.
- Mercimek-Andrews, Saadet
- Miller, Bradley S.
- Muthusamy, Karthik
- Neira, Juanita
- Patterson, Marc C.
- Pogorelc, Natalie
- Powers, Lex N.
- Ramey, Elizabeth
- Reinhart, Michaela
- Squire, Audrey
- Thies, Jenny
- Vockley, Jerry
- Vreugdenhil, Hayden
- Witters, Peter
- Youbi, Mehdi
- Zeighami, Aziza
- Zemet, Roni
- Edmondson, Andrew C.
- Morava, Eva
2024
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Brain communications, 2021, Vol.3 (4), p.fcab215-fcab215
2021
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Biochimica et biophysica acta. Bioenergetics, 2016-08, Vol.1857, p.e102-e102
2016
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Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.403-414
2017
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Molecular genetics and metabolism reports, 2020, Vol.25, p.100638-100638
2020
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