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Neuropediatrics, 2011-02, Vol.42 (1), p.32
2011
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Pediatrics (Evanston), 2016-09, Vol.138 (3)
2016
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GOYA (SPAIN), 1980-02 (154), p.230-235
1980
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Ophthalmology (Rochester, Minn.), 2011-11, Vol.118 (11), p.2212-2217
2011
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Genetics in medicine, 2024-07, p.101219, Article 101219
- Alstrup, Morten
- Cesca, Fabrizia
- Krawczun-Rygmaczewska, Alicja
- López-Menéndez, Celia
- Pose-Utrilla, Julia
- Castberg, Filip Christian
- Bjerager, Mia Ortved
- Finnila, Candice
- Kruer, Michael C.
- Bakhtiari, Somayeh
- Padilla-Lopez, Sergio
- Manwaring, Linda
- Keren, Boris
- Afenjar, Alexandra
- Galatolo, Daniele
- Scalise, Roberta
- Santorelli, Fillippo M.
- Shillington, Amelle
- Vezain, Myriam
- Martinovic, Jelena
- Stevens, Cathy
- Gowda, Vykuntaraju K.
- Srinivasan, Varunvenkat M.
- Thiffault, Isabelle
- Pastinen, Tomi
- Baranano, Kristin
- Lee, Angela
- Granadillo, Jorge
- Glassford, Megan R.
- Keegan, Catherine E.
- Matthews, Nicole
- Saugier-Veber, Pascale
- Iglesias, Teresa
- Østergaard, Elsebet
2024
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Journal of neurology, 2020, Vol.267 (1), p.203-213
2020
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Prenatal diagnosis, 2022-12, Vol.42 (13), p.1686-1693
- Brar, Bobby K.
- Thompson, Marisa Gilstrop
- Vora, Neeta L.
- Gilmore, Kelly
- Blakemore, Karin
- Miller, Kristen A.
- Giordano, Jessica
- Dufke, Andreas
- Wong, Beatrix
- Stover, Samantha
- Lianoglou, Billie
- Veyver, Ignatia
- Dempsey, Esther
- Rosner, Mara
- Chong, Karen
- Chitayat, David
- Sparks, Teresa N.
- Norton, Mary E.
- Wapner, Ronald
- Baranano, Kristin
- Jelin, Angie C.
2022
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Human mutation, 2021-04, Vol.42 (4), p.445-459
- Woerden, Geeske M.
- Bos, Melanie
- Konink, Charlotte
- Distel, Ben
- Avagliano Trezza, Rossella
- Shur, Natasha E.
- Barañano, Kristin
- Mahida, Sonal
- Chassevent, Anna
- Schreiber, Allison
- Erwin, Angelika L.
- Gripp, Karen W.
- Rehman, Fatima
- Brulleman, Saskia
- McCormack, Róisín
- Geus, Gwynna
- Kalsner, Louisa
- Sorlin, Arthur
- Bruel, Ange‐Line
- Koolen, David A.
- Gabriel, Melissa K.
- Rossi, Mari
- Fitzpatrick, David R.
- Wilkie, Andrew O.M.
- Calpena, Eduardo
- Johnson, David
- Brooks, Alice
- Slegtenhorst, Marjon
- Fleischer, Julie
- Groepper, Daniel
- Lindstrom, Kristin
- Innes, A. Micheil
- Goodwin, Allison
- Humberson, Jennifer
- Noyes, Amanda
- Langley, Katherine G.
- Telegrafi, Aida
- Blevins, Amy
- Hoffman, Jessica
- Guillen Sacoto, Maria J.
- Juusola, Jane
- Monaghan, Kristin G.
- Punj, Sumit
- Simon, Marleen
- Pfundt, Rolph
- Elgersma, Ype
- Kleefstra, Tjitske
2021
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American journal of human genetics, 2016-05, Vol.98 (5), p.963-970
- Fregeau, Brieana
- Kim, Bum Jun
- Hernández-García, Andrés
- Jordan, Valerie K.
- Cho, Megan T.
- Schnur, Rhonda E.
- Monaghan, Kristin G.
- Juusola, Jane
- Rosenfeld, Jill A.
- Bhoj, Elizabeth
- Zackai, Elaine H.
- Sacharow, Stephanie
- Barañano, Kristin
- Bosch, Daniëlle G.M.
- de Vries, Bert B.A.
- Lindstrom, Kristin
- Schroeder, Audrey
- James, Philip
- Kulch, Peggy
- Lalani, Seema R.
- van Haelst, Mieke M.
- van Gassen, Koen L.I.
- van Binsbergen, Ellen
- Barkovich, A. James
- Scott, Daryl A.
- Sherr, Elliott H.
2016
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Drug safety, 2019-09, Vol.42 (9), p.1103-1114
- Ackert, Jessica
- Mohamed, Khadeeja
- Slakter, Jason S.
- El-Harazi, Sherif
- Berni, Alessandro
- Gevorkyan, Hakop
- Hardaker, Elizabeth
- Hussaini, Azra
- Jones, Siôn W.
- Koh, Gavin C. K. W.
- Patel, Jyoti
- Rasmussen, Scott
- Kelly, Deborah S.
- Barañano, David E.
- Thompson, John T.
- Warren, Keith A.
- Sergott, Robert C.
- Tonkyn, John
- Wolstenholme, Allen
- Coleman, Hanna
- Yuan, Alex
- Duparc, Stephan
- Green, Justin A.
2019
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Microsurgery, 2009, Vol.29 (3), p.171-177
2009
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American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1080-1090
- Kline, Antonie D.
- Krantz, Ian D.
- Bando, Masashige
- Shirahige, Katsuhiko
- Chea, Stephenson
- Sakata, Toyonori
- Rao, Suhas
- Dorsett, Dale
- Singh, Vijay Pratap
- Gerton, Jennifer L.
- Horsfield, Julia A.
- Calof, Anne L.
- Katz, Olivia
- Grados, Marco
- Raible, Sarah
- Barañano, Kristin
- Lyon, Gholson
- Musio, Antonio
- Carrico, Cheri S.
- Clemens, Douglas K.
- Caudill, Patti
- Massa, Valentina
- McGill, Bryan E.
- Dommestrup, Aila
- O'Connor, Julia
- Haaland, Richard E.
2019
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Nature cell biology, 1999-07, Vol.1 (3), p.152-157
1999
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Retinal cases & brief reports, 2014, Vol.8 (4), p.276
2014
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Molecular genetics & genomic medicine, 2021-10, Vol.9 (10), p.e1809-n/a
- Yabumoto, Megan
- Kianmahd, Jessica
- Singh, Meghna
- Palafox, Maria F.
- Wei, Angela
- Elliott, Kathryn
- Goodloe, Dana H.
- Dean, S. Joy
- Gooch, Catherine
- Murray, Brianna K.
- Swartz, Erin
- Schrier Vergano, Samantha A.
- Towne, Meghan C.
- Nugent, Kimberly
- Roeder, Elizabeth R.
- Kresge, Christina
- Pletcher, Beth A.
- Grand, Katheryn
- Graham, John M.
- Gates, Ryan
- Gomez‐Ospina, Natalia
- Ramanathan, Subhadra
- Clark, Robin Dawn
- Glaser, Kimberly
- Benke, Paul J.
- Cohen, Julie S.
- Fatemi, Ali
- Mu, Weiyi
- Baranano, Kristin W.
- Madden, Jill A.
- Gubbels, Cynthia S.
- Yu, Timothy W.
- Agrawal, Pankaj B.
- Chambers, Mary‐Kathryn
- Phornphutkul, Chanika
- Pugh, John A.
- Tauber, Kate A.
- Azova, Svetlana
- Smith, Jessica R.
- O’Donnell‐Luria, Anne
- Medsker, Hannah
- Srivastava, Siddharth
- Krakow, Deborah
- Schweitzer, Daniela N.
- Arboleda, Valerie A.
2021
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The Laryngoscope, 2009, Vol.119 (S1), p.S58-S58
2009
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Ophthalmic genetics, 2013-03, Vol.34 (1-2), p.52-54
2013
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The Journal of biological chemistry, 2000-05, Vol.275 (20), p.15166-15173
2000
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American journal of human genetics, 2024-07, Vol.111 (7), p.1330-1351
- Karayol, Remzi
- Borroto, Maria Carla
- Haghshenas, Sadegheh
- Namasivayam, Anoja
- Reilly, Jack
- Levy, Michael A.
- Relator, Raissa
- Kerkhof, Jennifer
- McConkey, Haley
- Shvedunova, Maria
- Petersen, Andrea K.
- Magnussen, Kari
- Zweier, Christiane
- Vasileiou, Georgia
- Reis, André
- Savatt, Juliann M.
- Mulligan, Meghan R.
- Bicknell, Louise S.
- Poke, Gemma
- Abu-El-Haija, Aya
- Duis, Jessica
- Hannig, Vickie
- Srivastava, Siddharth
- Barkoudah, Elizabeth
- Hauser, Natalie S.
- van den Born, Myrthe
- Hamiel, Uri
- Henig, Noa
- Baris Feldman, Hagit
- McKee, Shane
- Krapels, Ingrid P.C.
- Lei, Yunping
- Todorova, Albena
- Yordanova, Ralitsa
- Atemin, Slavena
- Rogac, Mihael
- McConnell, Vivienne
- Chassevent, Anna
- Barañano, Kristin W.
- Shashi, Vandana
- Sullivan, Jennifer A.
- Peron, Angela
- Iascone, Maria
- Canevini, Maria P.
- Friedman, Jennifer
- Reyes, Iris A.
- Kierstein, Janell
- Shen, Joseph J.
- Ahmed, Faria N.
- Mao, Xiao
- Almoguera, Berta
- Blanco-Kelly, Fiona
- Platzer, Konrad
- Treu, Ariana-Berenike
- Quilichini, Juliette
- Bourgois, Alexia
- Chatron, Nicolas
- Januel, Louis
- Rougeot, Christelle
- Carere, Deanna Alexis
- Monaghan, Kristin G.
- Rousseau, Justine
- Myers, Kenneth A.
- Sadikovic, Bekim
- Akhtar, Asifa
- Campeau, Philippe M.
2024
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Nature cell biology, 1999-06, Vol.1 (3), p.152-157
1999
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Retina (Philadelphia, Pa.), 1984, Vol.4 (2), p.100-102
1984
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Ophthalmic Genetics, 2013, Vol.34 (1-2), p.52-54
2013
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