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JAMA : the journal of the American Medical Association, 2014-11, Vol.312 (18), p.1880
- Lee, Hane
- Deignan, Joshua L
- Dorrani, Naghmeh
- Strom, Samuel P
- Kantarci, Sibel
- Quintero-Rivera, Fabiola
- Das, Kingshuk
- Toy, Traci
- Harry, Bret
- Yourshaw, Michael
- Fox, Michelle
- Fogel, Brent L
- Martinez-Agosto, Julian A
- Wong, Derek A
- Chang, Vivian Y
- Shieh, Perry B
- Palmer, Christina G S
- Dipple, Katrina M
- Grody, Wayne W
- Vilain, Eric
- Nelson, Stanley F
2014
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Frontiers in molecular biosciences, 2023-03, Vol.10, p.1085887-1085887
2023
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American journal of ophthalmology case reports, 2022-03, Vol.25, p.101305, Article 101305
2022
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Pediatric transplantation, 2012-09, Vol.16 (6), p.525-527
2012
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Chembiochem : a European journal of chemical biology, 2021-01, Vol.22 (1), p.84-91
2021
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Genetics in medicine, 2020-03, Vol.22 (3), p.490-499
- Lee, Hane
- Huang, Alden Y.
- Wang, Lee-kai
- Yoon, Amanda J.
- Renteria, Genecee
- Eskin, Ascia
- Signer, Rebecca H.
- Dorrani, Naghmeh
- Nieves-Rodriguez, Shirley
- Wan, Jijun
- Douine, Emilie D.
- Woods, Jeremy D.
- Dell’Angelica, Esteban C.
- Fogel, Brent L.
- Martin, Martin G.
- Butte, Manish J.
- Parker, Neil H.
- Wang, Richard T.
- Shieh, Perry B.
- Wong, Derek A.
- Gallant, Natalie
- Singh, Kathryn E.
- Tavyev Asher, Y. Jane
- Sinsheimer, Janet S.
- Krakow, Deborah
- Loo, Sandra K.
- Allard, Patrick
- Papp, Jeanette C.
- Palmer, Christina
- Martinez-Agosto, Julian A.
- Nelson, Stanley F.
2020
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ACS synthetic biology, 2023-01, Vol.12 (1), p.95-107
2023
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Macromolecules, 2007-03, Vol.40 (5), p.1604-1614
2007
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ACS synthetic biology, 2023-04, Vol.12 (4), p.1264-1274
2023
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Advances in pediatrics, 2012, Vol.59 (1), p.209-245
2012
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Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1381
2017
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The Lancet (British edition), 2004-05, Vol.363 (9422), p.1699-1700
2004
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Molecular genetics and metabolism, 2013-12, Vol.110 (4), p.477-483
2013
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ACS infectious diseases, 2019-10, Vol.5 (10), p.1802-1812
2019
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Journal of Clinical Microbiology, 2001-10, Vol.39 (10), p.3768-3771
2001
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Advances in pediatrics, 2012, Vol.59 (1), p.209-245
2012
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American journal of medical genetics. Part A, 2011-01, Vol.155A (1), p.22-32
- Milunsky, Jeff M.
- Maher, Tom M.
- Zhao, Geping
- Wang, Zhenyuan
- Mulliken, John B.
- Chitayat, David
- Clemens, Michele
- Stalker, Heather J.
- Bauer, Mislen
- Burch, Michele
- Chénier, Sébastien
- Cunningham, Michael L.
- Drack, Arlene V.
- Janssens, Sandra
- Karlea, Audrey
- Klatt, Regan
- Kini, Usha
- Klein, Ophir
- Lachmeijer, Augusta M.
- Megarbane, Andre
- Mendelsohn, Nancy J.
- Meschino, Wendy S.
- Mortier, Geert R.
- Parkash, Sandhya
- Ray, C. Renai
- Roberts, Angharad
- Roberts, Amy
- Reardon, Willie
- Schnur, Rhonda E.
- Smith, Rosemarie
- Splitt, Miranda
- Tezcan, Kamer
- Whiteford, Margo L.
- Wong, Derek A.
- Zori, Roberto
- Lin, Angela E.
2011
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Molecular genetics and metabolism, 2011-02, Vol.102 (2), p.149-152
2011
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Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.127-130
2014
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Pediatric research, 2023-12, Vol.94 (6), p.2005-2015
2023
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Human genetics, 2021-10, Vol.140 (10), p.1471-1485
- Lerner, Shaul
- Eilam, Raya
- Adler, Lital
- Baruteau, Julien
- Kreiser, Topaz
- Tsoory, Michael
- Brandis, Alexander
- Mehlman, Tevie
- Ryten, Mina
- Botia, Juan A.
- Ruiz, Sonia Garcia
- Garcia, Alejandro Cisterna
- Dionisi-Vici, Carlo
- Ranucci, Giusy
- Spada, Marco
- Mazkereth, Ram
- McCarter, Robert
- Izem, Rima
- Balmat, Thomas J.
- Richesson, Rachel
- Gazit, Ehud
- Nagamani, Sandesh C. S.
- Erez, Ayelet
2021
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The Journal of biological chemistry, 2004-10, Vol.279 (40), p.41302-41309
2004
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Human mutation, 2020-05, Vol.41 (5), p.946-960
- Zielonka, Matthias
- Garbade, Sven F.
- Gleich, Florian
- Okun, Jürgen G.
- Nagamani, Sandesh C. S.
- Gropman, Andrea L.
- Hoffmann, Georg F.
- Kölker, Stefan
- Posset, Roland
- Ah Mew, Nicholas
- Burrage, Lindsay C.
- Schulze, Andreas
- Berry, Susan A.
- Baumgartner, Matthias R.
- Diaz, George A.
- Merritt, J. Lawrence
- Bedoyan, Jirair K.
- Wong, Derek
- Harding, Cary O.
- Yudkoff, Marc
- Garcia‐Cazorla, Angeles
- Cortès‐Saladelafont, Elisenda
- Lund, Allan M.
- Dionisi‐Vici, Carlo
- Burlina, Alberto B.
- Morris, Andrew A.
- Freisinger, Peter
- Walter, Magdalena E.
- Jalan, Anil
- Schiff, Manuel
- Dobbelaere, Dries
- Bosch, Annet M.
- Ioannou, Harikleia
- Barić, Ivo
2020
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Journal of medical virology, 2004-05, Vol.73 (1), p.113-117
2004
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Genetics in medicine, 2024-04, Vol.26 (4), p.101039-101039, Article 101039
- Posset, Roland
- Garbade, Sven F.
- Gleich, Florian
- Scharre, Svenja
- Okun, Jürgen G.
- Gropman, Andrea L.
- Nagamani, Sandesh C.S.
- Druck, Ann-Catrin
- Epp, Friederike
- Hoffmann, Georg F.
- Kölker, Stefan
- Zielonka, Matthias
- Mew, Nicholas Ah
- Seminara, Jennifer
- Burrage, Lindsay C.
- Berry, Gerard T.
- Breilyn, Margo
- Schulze, Andreas
- Harding, Cary O.
- Berry, Susan A.
- Wong, Derek
- McCandless, Shawn E.
- Baumgartner, Matthias R.
- Konczal, Laura
- Ficicioglu, Can
- Diaz, George A.
- Coughlin, Curtis R.
- Enns, Gregory M.
- Gallagher, Renata C.
- Lam, Christina
- Stricker, Tamar
- Wilkening, Greta
- Dionisi-Vici, Carlo
- Dobbelaere, Dries
- Blasco-Alonso, Javier
- Burlina, Alberto B.
- Freisinger, Peter
- van Hasselt, Peter M.
- Skouma, Anastasia
- Lund, Allan M.
- Vara, Roshni
- Sarajlija, Adrijan
- Morris, Andrew A.
- Chakrapani, Anupam
- Barić, Ivo
- Augoustides-Savvopoulou, Persephone
- Chien, Yin-Hsiu
- Cortès-Saladelafont, Elisenda
- Eyskens, Francois
- Gramer, Gwendolyn
- Zeman, Jiri
- Karall, Daniela
- Couce, Maria L.
- Mühlhausen, Chris
- Pedrón-Giner, Consuelo
- Spiekerkoetter, Ute
- Sykut-Cegielska, Jolanta
- Wagenmakers, Margreet
- Wijburg, Frits A.
2024
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