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Clinical endocrinology (Oxford), 2011-12, Vol.75 (6), p.806-810
2011
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American journal of human genetics, 2015-09, Vol.97 (3), p.483-492
- Fischer-Zirnsak, Björn
- Escande-Beillard, Nathalie
- Ganesh, Jaya
- Tan, Yu Xuan
- Al Bughaili, Mohammed
- Lin, Angela E.
- Sahai, Inderneel
- Bahena, Paulina
- Reichert, Sara L.
- Loh, Abigail
- Wright, Graham D.
- Liu, Jaron
- Rahikkala, Elisa
- Pivnick, Eniko K.
- Choudhri, Asim F.
- Krüger, Ulrike
- Zemojtel, Tomasz
- van Ravenswaaij-Arts, Conny
- Mostafavi, Roya
- Stolte-Dijkstra, Irene
- Symoens, Sofie
- Pajunen, Leila
- Al-Gazali, Lihadh
- Meierhofer, David
- Robinson, Peter N.
- Mundlos, Stefan
- Villarroel, Camilo E.
- Byers, Peter
- Masri, Amira
- Robertson, Stephen P.
- Schwarze, Ulrike
- Callewaert, Bert
- Reversade, Bruno
- Kornak, Uwe
2015
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Genetics in Medicine Open, 2024, Vol.2, p.100894
2024
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The Journal of pediatrics, 2009-12, Vol.155 (6), p.888-892.e1
2009
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International journal of neonatal screening, 2021-05, Vol.7 (2), p.26
2021
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Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100735-100735, Article 100735
2021
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JIMD reports, 2020-07, Vol.54 (1), p.3-8
2020
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Clinical chemistry (Baltimore, Md.), 2023-04, Vol.69 (5), p.433-434
2023
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The Journal of pediatrics, 2011, Vol.158 (1), p.172-172
2011
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Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S17-S17
2022
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The New England journal of medicine, 2011-04, Vol.364 (16), p.1564-1572
2011
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JCEM case reports, 2023-09, Vol.1 (5)
2023
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Indian journal of pediatrics, 2011-08, Vol.78 (8), p.953-960
2011
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Critical reviews in clinical laboratory sciences, 2009-03, Vol.46 (2), p.55-82
2009
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American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2760-2765
2022
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The journal of clinical endocrinology and metabolism, 2023-10, Vol.108 (11), p.e1306-e1315
2023
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American journal of human genetics, 2024-01, Vol.111 (1), p.70-81
2024
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American journal of medical genetics. Part A, 2023-12, Vol.191 (12), p.2898-2902
2023
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The oncologist (Dayton, Ohio), 2016-04, Vol.21 (4), p.514-520
2016
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S8
2021
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S8-S8
2021
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Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1165-1172
2020
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American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1276-1286
- Stolerman, Elliot S.
- Francisco, Elizabeth
- Stallworth, Jennifer L.
- Jones, Julie R.
- Monaghan, Kristin G.
- Keller‐Ramey, Jennifer
- Person, Richard
- Wentzensen, Ingrid M.
- McWalter, Kirsty
- Keren, Boris
- Heron, Benedicte
- Nava, Caroline
- Heron, Delphine
- Kim, Katherine
- Burton, Barbara
- Al‐Musafri, Fatima
- O'Grady, Lauren
- Sahai, Inderneel
- Escobar, Luis F.
- Meuwissen, Marije
- Reyniers, Edwin
- Kooy, Frank
- Lacassie, Yves
- Gunay‐Aygun, Meral
- Schatz, Krista Sondergaard
- Hochstenbach, Ron
- Zwijnenburg, Petra J.G.
- Waisfisz, Quinten
- Slegtenhorst, Marjon
- Mancini, Grazia M.S.
- Louie, Raymond J.
2019
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Ophthalmic genetics, 2019-12, Vol.40 (6), p.570-573
2019
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Genetics in medicine, 2012-07, Vol.14 (7), p.648-655
- Marquardt, Gregg
- Currier, Robert
- McHugh, David M.S.
- Gavrilov, Dimitar
- Magera, Mark J.
- Matern, Dietrich
- Oglesbee, Devin
- Raymond, Kimiyo
- Rinaldo, Piero
- Smith, Emily H.
- Tortorelli, Silvia
- Turgeon, Coleman T.
- Lorey, Fred
- Wilcken, Bridget
- Greed, Lawrence C.
- Lewis, Barry
- Schoos, Roland
- Domingos, Mouseline Torquado
- Sinclair, Graham
- Al-Dirbashi, Osama Y.
- Chakraborty, Pranesh
- Dymerski, Mark
- Porter, Cory
- Manning, Adrienne
- Seashore, Margretta R.
- Quesada, Jonessy
- Reuben, Alejandra
- Hornik, Petr
- Mandour, Iman Atef
- Bodamer, Olaf
- Dy, Bonifacio
- Torres, Jasmin
- Zori, Roberto
- Cheillan, David
- Ludvigson, David
- Stembridge, Adrya
- Bonham, Jim
- Dotsikas, Yannis
- Loukas, Yannis L.
- Papakonstantinou, Vagelis
- Zacharioudakis, Georgios S.A.
- Baráth, Ákos
- Karg, Eszter
- Franzson, Leifur
- Breen, Nancy N.
- Lesko, Barbara G.
- Berberich, Stanton L.
- Scolamiero, Emanuela
- Antonozzi, Italo
- Carducci, Claudia
- Caruso, Ubaldo
- Marca, Giancarlo la
- Pasquini, Elisabetta
- Di Gangi, Iole Maria
- Giordano, Giuseppe
- Teofoli, Francesca
- Manos, Shawn M.
- Peterson, Colleen K.
- Mayfield Gibson, Stephanie K.
- Sevier, Darrin W.
- Park, Hyung-Doo
- Khneisser, Issam
- Browning, Phaidra
- Gulamali-Majid, Fizza
- Watson, Michael S.
- Eaton, Roger B.
- Sahai, Inderneel
- Ruiz, Consuelo
- Torres, Rosario
- Seeterlin, Mary A.
- Stanley, Eleanor L.
- Hietala, Amy
- McCann, Mark
- Campbell, Carlene
- Hopkins, Patrick V.
- de Sain–Van der Velden, Monique G.
- Elvers, Bert
- Morrissey, Mark A.
- Sunny, Sherlykutty
- Knoll, Detlef
- Webster, Dianne
- Frazier, Dianne M.
- McClure, Julie D.
- Sesser, David E.
- Rocha, Hugo
- Vilarinho, Laura
- John, Catharine
- Lim, James
- Caldwell, S. Graham
- Castiñeiras Ramos, Daisy E.
- Fernández, Inmaculada Rueda
- Egea-Mellado, José María
- González-Gallego, Inmaculada
- Pecellin, Carmen Delgado
- Childs, Thomas
- McKeever, Christine D.
- Abdulrahman, Mahera
- Queijo, Cecilia
- Lemes, Aída
- Hoffman, Gary L.
2012
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