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Molecular genetics and metabolism, 2016-04, Vol.117 (4), p.393-400
2016
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PLoS genetics, 2019-05, Vol.15 (5), p.e1008143
2019
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Annual review of genomics and human genetics, 2008-01, Vol.9 (1), p.359-386
2008
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Genetics in medicine, 2017-02, Vol.19 (2), p.160-168
- Lam, Christina
- Ferreira, Carlos
- Krasnewich, Donna
- Toro, Camilo
- Latham, Lea
- Zein, Wadih M.
- Lehky, Tanya
- Brewer, Carmen
- Baker, Eva H.
- Thurm, Audrey
- Farmer, Cristan A.
- Rosenzweig, Sergio D.
- Lyons, Jonathan J.
- Schreiber, John M.
- Gropman, Andrea
- Lingala, Shilpa
- Ghany, Marc G.
- Solomon, Beth
- Macnamara, Ellen
- Davids, Mariska
- Stratakis, Constantine A.
- Kimonis, Virginia
- Gahl, William A.
- Wolfe, Lynne
2017
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PLoS genetics, 2017-02, Vol.13 (2), p.e1006481-e1006481
2017
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PLoS genetics, 2011-10, Vol.7 (10), p.e1002325-e1002325
- Pierson, Tyler Mark
- Adams, David
- Bonn, Florian
- Martinelli, Paola
- Cherukuri, Praveen F
- Teer, Jamie K
- Hansen, Nancy F
- Cruz, Pedro
- Mullikin For The Nisc Comparative Sequencing Program, James C
- Blakesley, Robert W
- Golas, Gretchen
- Kwan, Justin
- Sandler, Anthony
- Fuentes Fajardo, Karin
- Markello, Thomas
- Tifft, Cynthia
- Blackstone, Craig
- Rugarli, Elena I
- Langer, Thomas
- Gahl, William A
- Toro, Camilo
- Cox, Gregory A.
2011
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Human mutation, 2017-12, Vol.38 (12), p.1751-1760
2017
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Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-308, Article 308
2021
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Molecular genetics and metabolism, 2015-12, Vol.116 (4), p.223-225
2015
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Molecular genetics and metabolism, 2015-03, Vol.114 (3), p.474-482
- Markello, Thomas
- Chen, Dong
- Kwan, Justin Y.
- Horkayne-Szakaly, Iren
- Morrison, Alan
- Simakova, Olga
- Maric, Irina
- Lozier, Jay
- Cullinane, Andrew R.
- Kilo, Tatjana
- Meister, Lynn
- Pakzad, Kourosh
- Bone, William
- Chainani, Sanjay
- Lee, Elizabeth
- Links, Amanda
- Boerkoel, Cornelius
- Fischer, Roxanne
- Toro, Camilo
- White, James G.
- Gahl, William A.
- Gunay-Aygun, Meral
2015
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Molecular genetics and metabolism, 2024-01, Vol.141 (1), p.108125-108125, Article 108125
2024
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Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.267-276
2020
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Human molecular genetics, 2014-01, Vol.23 (2), p.397-407
- Lim, Young H
- Ovejero, Diana
- Sugarman, Jeffrey S
- Deklotz, Cynthia M C
- Maruri, Ann
- Eichenfield, Lawrence F
- Kelley, Patrick K
- Jüppner, Harald
- Gottschalk, Michael
- Tifft, Cynthia J
- Gafni, Rachel I
- Boyce, Alison M
- Cowen, Edward W
- Bhattacharyya, Nisan
- Guthrie, Lori C
- Gahl, William A
- Golas, Gretchen
- Loring, Erin C
- Overton, John D
- Mane, Shrikant M
- Lifton, Richard P
- Levy, Moise L
- Collins, Michael T
- Choate, Keith A
2014
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Human mutation, 2013-06, Vol.34 (6), p.827-835
2013
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PLoS genetics, 2021-11, Vol.17 (11), p.e1009854-e1009854
2021
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Molecular genetics and metabolism, 2011-08, Vol.103 (4), p.307-314
2011
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American journal of human genetics, 2011-06, Vol.88 (6), p.778-787
2011
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American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2102-2107
2021
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Molecular genetics and metabolism, 2020-05, Vol.130 (1), p.49-57
- Davids, Mariska
- Menezes, Minal
- Guo, Yiran
- McLean, Scott D.
- Hakonarson, Hakon
- Collins, Felicity
- Worgan, Lisa
- Billington, Charles J.
- Maric, Irina
- Littlejohn, Rebecca Okashah
- Onyekweli, Tito
- Members of the UDN
- Adams, David R.
- Tifft, Cynthia J.
- Gahl, William A.
- Wolfe, Lynne A.
- Christodoulou, John
- Malicdan, May Christine V.
2020
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Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients
2017
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American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.103-115
2016
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Frontiers in genetics, 2023-03, Vol.14, p.1072784-1072784
2023
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Human genetics, 2017-04, Vol.136 (4), p.409-420
2017
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American journal of medical genetics. Part A, 2017-12, Vol.173 (12), p.3231-3237
2017
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Molecular genetics and metabolism reports, 2023-09, Vol.36, p.100990-100990, Article 100990
2023
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