Results
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8541.
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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. [electronic resource] by
- Amendola, Laura M
- Jarvik, Gail P
- Leo, Michael C
- McLaughlin, Heather M
- Akkari, Yassmine
- Amaral, Michelle D
- Berg, Jonathan S
- Biswas, Sawona
- Bowling, Kevin M
- Conlin, Laura K
- Cooper, Greg M
- Dorschner, Michael O
- Dulik, Matthew C
- Ghazani, Arezou A
- Ghosh, Rajarshi
- Green, Robert C
- Hart, Ragan
- Horton, Carrie
- Johnston, Jennifer J
- Lebo, Matthew S
- Milosavljevic, Aleksandar
- Ou, Jeffrey
- Pak, Christine M
- Patel, Ronak Y
- Punj, Sumit
- Richards, Carolyn Sue
- Salama, Joseph
- Strande, Natasha T
- Yang, Yaping
- Plon, Sharon E
- Biesecker, Leslie G
- Rehm, Heidi L
Producer: 20170510
In:
American journal of human genetics vol. 98
Availability: No items available.
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8542.
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8543.
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8544.
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8545.
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8546.
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8547.
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8548.
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8549.
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SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. [electronic resource] by
- Roeben, Benjamin
- Schüle, Rebecca
- Ruf, Susanne
- Bender, Benjamin
- Alhaddad, Bader
- Benkert, Tanja
- Meitinger, Thomas
- Reich, Selina
- Böhringer, Judith
- Langhans, Claus-Dieter
- Vaz, Frédéric M
- Wortmann, Saskia B
- Marquardt, Thorsten
- Haack, Tobias B
- Krägeloh-Mann, Ingeborg
- Schöls, Ludger
- Synofzik, Matthis
Producer: 20180723
In:
Journal of medical genetics vol. 55
Availability: No items available.
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8550.
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8551.
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8552.
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8553.
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8554.
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8555.
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8556.
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8557.
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8558.
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Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network's Common Measures Working Group. [electronic resource] by
- Orlando, Lori A
- Sperber, Nina R
- Voils, Corrine
- Nichols, Marshall
- Myers, Rachel A
- Wu, R Ryanne
- Rakhra-Burris, Tejinder
- Levy, Kenneth D
- Levy, Mia
- Pollin, Toni I
- Guan, Yue
- Horowitz, Carol R
- Ramos, Michelle
- Kimmel, Stephen E
- McDonough, Caitrin W
- Madden, Ebony B
- Damschroder, Laura J
Producer: 20181017
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
Availability: No items available.
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8559.
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8560.
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