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The Journal of pediatrics, 2021-08, Vol.235, p.19-20
2021
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Molecular genetics and metabolism, 2018-03, Vol.123 (3), p.301-308
2018
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Academic medicine, 2017-10, Vol.92 (10), p.1373-1374
2017
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Current opinion in pediatrics, 2020-12, Vol.32 (6), p.707
2020
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The New England journal of medicine, 2022-10, Vol.387 (15), p.1395-1403
2022
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American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2519-2525
2021
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Human mutation, 2019-05, Vol.40 (5), p.499-515
2019
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Clinical chemistry (Baltimore, Md.), 2020-09, Vol.66 (9), p.1134-1135
2020
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Clinical chemistry (Baltimore, Md.), 2023-06, Vol.69 (6), p.564-582
2023
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Clinical chemistry (Baltimore, Md.), 2023-06, Vol.69 (6), p.661-664
2023
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Clinical chemistry (Baltimore, Md.), 2020-07, Vol.66 (7), p.988-989
2020
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Molecular genetics and metabolism, 2021-09, Vol.134 (1-2), p.37-42
2021
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Clinical chemistry (Baltimore, Md.), 2021-12, Vol.67 (12), p.1735-1737
2021
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American journal of medical genetics. Part A, 2020-02, Vol.182 (2), p.365-373
2020
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Haematologica (Roma), 2011-04, Vol.96 (4), p.602-606
2011
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Molecular genetics and metabolism, 2023-09, Vol.140 (1-2), p.107710-107710, Article 107710
2023
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Human molecular genetics, 2018-10, Vol.27 (19), p.3305-3312
- Barca, Emanuele
- Ganetzky, Rebecca D
- Potluri, Prasanth
- Juanola-Falgarona, Marti
- Gai, Xiaowu
- Li, Dong
- Jalas, Chaim
- Hirsch, Yoel
- Emmanuele, Valentina
- Tadesse, Saba
- Ziosi, Marcello
- Akman, Hasan O
- Chung, Wendy K
- Tanji, Kurenai
- McCormick, Elizabeth M
- Place, Emily
- Consugar, Mark
- Pierce, Eric A
- Hakonarson, Hakon
- Wallace, Douglas C
- Hirano, Michio
- Falk, Marni J
2018
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Journal of mass spectrometry and advances in the clinical lab, 2024-01, Vol.31, p.49-58
2024
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Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.41-41, Article 41
2022
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Genetics in Medicine Open, 2024, Vol.2, p.101784, Article 101784
2024
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Molecular genetics and metabolism, 2022-11, Vol.137 (3), p.230-238
2022
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Molecular genetics and metabolism, 2017-06, Vol.121 (2), p.119-126
2017
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Genetics in medicine, 2023-02, Vol.25 (2), p.100332-100332, Article 100332
- Whittle, Ella F.
- Chilian, Madison
- Karimiani, Ehsan Ghayoor
- Progri, Helga
- Buhas, Daniela
- Kose, Melis
- Ganetzky, Rebecca D.
- Toosi, Mehran Beiraghi
- Torbati, Paria Najarzadeh
- Badv, Reza Shervin
- Shelihan, Ivan
- Yang, Hui
- Elloumi, Houda Zghal
- Lee, Sukyeong
- Jamshidi, Yalda
- Pittman, Alan M.
- Houlden, Henry
- Ignatius, Erika
- Rahman, Shamima
- Maroofian, Reza
- Yoon, Wan Hee
- Carroll, Christopher J.
2023
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Neurology. Genetics, 2020-02, Vol.6 (1), p.e393-e393
- Stendel, Claudia
- Neuhofer, Christiane
- Floride, Elisa
- Yuqing, Shi
- Ganetzky, Rebecca D
- Park, Joohyun
- Freisinger, Peter
- Kornblum, Cornelia
- Kleinle, Stephanie
- Schöls, Ludger
- Distelmaier, Felix
- Stettner, Georg M
- Büchner, Boriana
- Falk, Marni J
- Mayr, Johannes A
- Synofzik, Matthis
- Abicht, Angela
- Haack, Tobias B
- Prokisch, Holger
- Wortmann, Saskia B
- Murayama, Kei
- Fang, Fang
- Klopstock, Thomas
2020
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Molecular genetics and metabolism, 2022-01, Vol.135 (1), p.93-101
- Wang, Jing
- Balciuniene, Jorune
- Diaz-Miranda, Maria Alejandra
- McCormick, Elizabeth M.
- Aref-Eshghi, Erfan
- Muir, Alison M.
- Cao, Kajia
- Troiani, Juliana
- Moseley, Alicia
- Fan, Zhiqian
- Zolkipli-Cunningham, Zarazuela
- Goldstein, Amy
- Ganetzky, Rebecca D.
- Muraresku, Colleen C.
- Peterson, James T.
- Spinner, Nancy B.
- Wallace, Douglas C.
- Dulik, Matthew C.
- Falk, Marni J.
2022
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