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Cochrane database of systematic reviews, 2014-07 (7), p.CD005088-CD005088
2014
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Cochrane database of systematic reviews, 2016-10, Vol.10 (10), p.CD005088-CD005088
2016
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A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature
2024
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Pediatric transplantation, 2020-12, Vol.24 (8), p.e13808-n/a
2020
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Frontiers in pediatrics, 2023-08, Vol.11, p.1229666-1229666
2023
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Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.66-15, Article 66
2021
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Genetics in medicine, 2021-12, Vol.23 (12), p.2443-2447
- Savarirayan, Ravi
- Tofts, Louise
- Irving, Melita
- Wilcox, William R
- Bacino, Carlos A
- Hoover-Fong, Julie
- Font, Rosendo Ullot
- Harmatz, Paul
- Rutsch, Frank
- Bober, Michael B
- Polgreen, Lynda E
- Ginebreda, Ignacio
- Mohnike, Klaus
- Charrow, Joel
- Hoernschemeyer, Daniel
- Ozono, Keiichi
- Alanay, Yasemin
- Arundel, Paul
- Kotani, Yumiko
- Yasui, Natsuo
- White, Klane K
- Saal, Howard M
- Leiva-Gea, Antonio
- Luna-González, Felipe
- Mochizuki, Hiroshi
- Basel, Donald
- Porco, Dania M
- Jayaram, Kala
- Fisheleva, Elena
- Huntsman-Labed, Alice
- Day, Jonathan R S
2021
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Clinics in perinatology, 2020-03, Vol.47 (1), p.123-141
2020
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American journal of human genetics, 2024-03, Vol.111 (3), p.487-508
- Shepherdson, James L.
- Hutchison, Katie
- Don, Dilan Wellalage
- McGillivray, George
- Choi, Tae-Ik
- Allan, Carolyn A.
- Amor, David J.
- Banka, Siddharth
- Basel, Donald G.
- Buch, Laura D.
- Carere, Deanna Alexis
- Carroll, Renée
- Clayton-Smith, Jill
- Crawford, Ali
- Dunø, Morten
- Faivre, Laurence
- Gilfillan, Christopher P.
- Gold, Nina B.
- Gripp, Karen W.
- Hobson, Emma
- Holtz, Alexander M.
- Innes, A. Micheil
- Isidor, Bertrand
- Jackson, Adam
- Katsonis, Panagiotis
- Amel Riazat Kesh, Leila
- Küry, Sébastien
- Lecoquierre, François
- Lockhart, Paul
- Maraval, Julien
- Matsumoto, Naomichi
- McCarrier, Julie
- McCarthy, Josephine
- Miyake, Noriko
- Moey, Lip Hen
- Németh, Andrea H.
- Østergaard, Elsebet
- Patel, Rushina
- Pope, Kate
- Posey, Jennifer E.
- Schnur, Rhonda E.
- Shaw, Marie
- Stolerman, Elliot
- Taylor, Julie P.
- Wadman, Erin
- Wakeling, Emma
- White, Susan M.
- Wong, Lawrence C.
- Lupski, James R.
- Lichtarge, Olivier
- Corbett, Mark A.
- Gecz, Jozef
- Nicolet, Charles M.
- Farnham, Peggy J.
- Kim, Cheol-Hee
- Shinawi, Marwan
2024
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Journal of investigative dermatology, 2018-04, Vol.138 (4), p.957-967
- Siegel, Dawn H.
- Cottrell, Catherine E.
- Streicher, Jenna L.
- Schilter, Kala F.
- Basel, Donald G.
- Baselga, Eulalia
- Burrows, Patricia E.
- Ciliberto, Heather M.
- Vigh-Conrad, Katinka A.
- Eichenfield, Lawrence F.
- Holland, Kristen E.
- Hogeling, Marcia
- Jensen, John N.
- Kelly, Michael E.
- Kim, Wendy
- King, David M.
- McCuaig, Catherine
- Mueller, Katherine A.
- Pope, Elena
- Powell, Julie
- Price, Harper
- Steiner, Jack E.
- Frieden, Ilona J.
- Tollefson, Megha M.
- Drolet, Beth A.
2018
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Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.1-247, Article 247
2021
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Pediatrics in review, 2021-11, Vol.42 (11), p.619
2021
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Clinics in perinatology, 2020-03, Vol.47 (1), p.15-23
2020
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The Pediatric clinics of North America, 2017-02, Vol.64 (1), p.265-272
2017
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JIMD reports, 2024-05, Vol.65 (3), p.144-155
2024
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Npj genomic medicine, 2020-12, Vol.5 (1), p.53-53, Article 53
- Jolly, Lachlan A
- Parnell, Euan
- Gardner, Alison E
- Corbett, Mark A
- Pérez-Jurado, Luis A
- Shaw, Marie
- Lesca, Gaetan
- Keegan, Catherine
- Schneider, Michael C
- Griffin, Emily
- Maier, Felicitas
- Kiss, Courtney
- Guerin, Andrea
- Crosby, Kathleen
- Rosenbaum, Kenneth
- Tanpaiboon, Pranoot
- Whalen, Sandra
- Keren, Boris
- McCarrier, Julie
- Basel, Donald
- Sadedin, Simon
- White, Susan M
- Delatycki, Martin B
- Kleefstra, Tjitske
- Küry, Sébastien
- Brusco, Alfredo
- Sukarova-Angelovska, Elena
- Trajkova, Slavica
- Yoon, Sehoun
- Wood, Stephen A
- Piper, Michael
- Penzes, Peter
- Gecz, Jozef
2020
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The Journal of pediatrics, 2016-10, Vol.177, p.49-52
2016
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Genes, 2022-06, Vol.13 (7), p.1165
2022
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Life (Basel, Switzerland), 2024-02, Vol.14 (3), p.297
2024
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Human mutation, 2018-02, Vol.39 (2), p.281-291
- Moysés‐Oliveira, Mariana
- Giannuzzi, Giuliana
- Fish, Richard J.
- Rosenfeld, Jill A.
- Petit, Florence
- Soares, Maria de Fatima
- Kulikowski, Leslie Domenici
- Di‐Battista, Adriana
- Zamariolli, Malú
- Xia, Fan
- Liehr, Thomas
- Kosyakova, Nadezda
- Carvalheira, Gianna
- Parker, Michael
- Seaby, Eleanor G.
- Ennis, Sarah
- Gilbert, Rodney D.
- Hagelstrom, R. Tanner
- Cremona, Maria L.
- Li, Wenhui L.
- Malhotra, Alka
- Chandrasekhar, Anjana
- Perry, Denise L.
- Taft, Ryan J.
- McCarrier, Julie
- Basel, Donald G.
- Andrieux, Joris
- Stumpp, Taiza
- Antunes, Fernanda
- Pereira, Gustavo José
- Neerman‐Arbez, Marguerite
- Meloni, Vera Ayres
- Drummond‐Borg, Margaret
- Melaragno, Maria Isabel
- Reymond, Alexandre
2018
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The Journal of pediatrics, 2016-10, Vol.177, p.330-330
2016
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Genetics in Medicine Open, 2024, Vol.2, p.101028
2024
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100619, Article 100619
2023
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