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Pediatric diabetes, 2015-02, Vol.16 (1), p.1-9
2015
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The New England journal of medicine, 2020-10, Vol.383 (16), p.1556-1563
2020
Link zum Volltext
The New England journal of medicine, 2019-07, Vol.381 (2), p.164-172
- Matiello, Marcelo
- Juliano, Amy F
- Bowley, Michael
- Karaa, Amel
- Cabot, Richard C
- Tran, Kathy M
- Rosenberg, Eric S
- Dudzinski, David M
- Shepard, Jo-Anne O
- Pierce, Virginia M
- McDonald, Emily K
- Ebeling, Sally H
- Baggett, Meridale V
- Sgroi, Dennis C
- Tran, Kathy M.
- Shepard, Jo-Anne O.
- Ebeling, Sally H.
- Dudzinski, David M.
- Sgroi, Dennis C.
- Pierce, Virginia M.
- Baggett, Meridale V.
- Rosenberg, Eric S.
- McDonald, Emily K.
- Cabot, Richard C.
2019
Link zum Volltext
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
Link zum Volltext
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
- McCormick, Elizabeth M.
- Lott, Marie T.
- Dulik, Matthew C.
- Shen, Lishuang
- Attimonelli, Marcella
- Vitale, Ornella
- Karaa, Amel
- Bai, Renkui
- Pineda‐Alvarez, Daniel E.
- Singh, Larry N.
- Stanley, Christine M.
- Wong, Stacey
- Bhardwaj, Anshu
- Merkurjev, Daria
- Mao, Rong
- Sondheimer, Neal
- Zhang, Shiping
- Procaccio, Vincent
- Wallace, Douglas C.
- Gai, Xiaowu
- Falk, Marni J.
2020
Link zum Volltext
The New England journal of medicine, 2020-11, Vol.383 (20), p.1974-1983
- Caplan, David N
- Rapalino, Otto
- Karaa, Amel
- Rosovsky, Rachel P
- Uljon, Sacha
- Cabot, Richard C
- Tran, Kathy M
- Rosenberg, Eric S
- Dudzinski, David M
- Shepard, Jo-Anne O
- Pierce, Virginia M
- McDonald, Emily K
- Corpuz, Tara
- Roberts, Matthew B
- Baggett, Meridale V
- Sgroi, Dennis C
- Tran, Kathy M.
- Shepard, Jo-Anne O.
- Dudzinski, David M.
- Roberts, Matthew B.
- McDonald, Emily K.
- Sgroi, Dennis C.
- Pierce, Virginia M.
- Baggett, Meridale V.
- Rosenberg, Eric S.
- Cabot, Richard C.
2020
Link zum Volltext
Journal of cachexia, sarcopenia and muscle, 2020-08, Vol.11 (4), p.909-918
2020
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Orphanet journal of rare diseases, 2018-11, Vol.13 (1), p.210-210, Article 210
2018
Link zum Volltext
Multiple sclerosis, 2019-05, Vol.25 (6), p.879-882
2019
Link zum Volltext
International journal of dermatology, 2007-07, Vol.46 (7), p.671-678
2007
Link zum Volltext
Journal of medical genetics, 2019-03, Vol.56 (3), p.123
- Parikh, Sumit
- Karaa, Amel
- Goldstein, Amy
- Bertini, Enrico Silvio
- Chinnery, Patrick F
- Christodoulou, John
- Cohen, Bruce H
- Davis, Ryan L
- Falk, Marni J
- Fratter, Carl
- Horvath, Rita
- Koenig, Mary Kay
- Mancuso, Michaelangelo
- McCormack, Shana
- McCormick, Elizabeth M
- McFarland, Robert
- Nesbitt, Victoria
- Schiff, Manuel
- Steele, Hannah
- Stockler, Silvia
- Sue, Carolyn
- Tarnopolsky, Mark
- Thorburn, David R
- Vockley, Jerry
- Rahman, Shamima
2019
Link zum Volltext
Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.194-194
2023
Link zum Volltext
Current neurology and neuroscience reports, 2013-08, Vol.13 (8), p.366-366, Article 366
2013
Link zum Volltext
Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.157-157, Article 157
2023
Link zum Volltext
CNS neuroscience & therapeutics, 2016-07, Vol.22 (7), p.568-576
2016
Link zum Volltext
Therapeutic Advances in Gastroenterology, 2016-07, Vol.9 (4), p.626-634
2016
Link zum Volltext
Genetics in Medicine Open, 2024, Vol.2, p.100894
2024
Link zum Volltext
Journal of patient-reported outcomes, 2022-12, Vol.6 (1), p.129-129, Article 129
2022
Link zum Volltext
HGG advances, 2023-10, Vol.4 (4), p.100226-100226, Article 100226
2023
Link zum Volltext
Handbook of Clinical Neurology, 2023, Vol.194, p.229-250
2023
Link zum Volltext
Child neurology open, 2021-01, Vol.8, p.2329048X21991382
2021
Link zum Volltext
Data in brief, 2019-08, Vol.25, p.104343-104343, Article 104343
2019
Link zum Volltext
Case reports in pediatrics, 2013-01, Vol.2013, p.764659-5
2013
Link zum Volltext
Genetics & genomics next, 2022-03, Vol.3 (1), p.n/a
2022
Link zum Volltext
Hepatology (Baltimore, Md.), 2006, Vol.43 (1), p.182-190
2006
Link zum Volltext
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