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Clinical genetics, 2018-11, Vol.94 (5), p.450-456
2018
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Clinical genetics, 2011-06, Vol.79 (6), p.546-553
2011
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Molecular syndromology, 2013-06, Vol.4 (5), p.246-249
2013
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Human genetics, 2024-01, Vol.143 (1), p.71-84
- Schmetz, Ariane
- Lüdecke, Hermann-Josef
- Surowy, Harald
- Sivalingam, Sugirtahn
- Bruel, Ange-Line
- Caumes, Roseline
- Charles, Perrine
- Chatron, Nicolas
- Chrzanowska, Krystyna
- Codina-Solà, Marta
- Colson, Cindy
- Cuscó, Ivon
- Denommé-Pichon, Anne-Sophie
- Edery, Patrick
- Faivre, Laurence
- Green, Andrew
- Heide, Solveig
- Hsieh, Tzung-Chien
- Hustinx, Alexander
- Kleinendorst, Lotte
- Knopp, Cordula
- Kraft, Florian
- Krawitz, Peter M.
- Lasa-Aranzasti, Amaia
- Lesca, Gaetan
- López-González, Vanesa
- Maraval, Julien
- Mignot, Cyril
- Neuhann, Teresa
- Netzer, Christian
- Oehl-Jaschkowitz, Barbara
- Petit, Florence
- Philippe, Christophe
- Posmyk, Renata
- Putoux, Audrey
- Reis, André
- Sánchez-Soler, María José
- Suh, Julia
- Tkemaladze, Tinatin
- Tran Mau Them, Frédéric
- Travessa, André
- Trujillano, Laura
- Valenzuela, Irene
- van Haelst, Mieke M.
- Vasileiou, Georgia
- Vincent-Delorme, Catherine
- Walther, Mona
- Verde, Pablo
- Bramswig, Nuria C.
- Wieczorek, Dagmar
2024
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Journal of medical genetics, 2011-11, Vol.48 (11), p.741-751
- Moog, Ute
- Kutsche, Kerstin
- Kortüm, Fanny
- Chilian, Bettina
- Bierhals, Tatjana
- Apeshiotis, Neophytos
- Balg, Stefanie
- Chassaing, Nicolas
- Coubes, Christine
- Das, Soma
- Engels, Hartmut
- Van Esch, Hilde
- Grasshoff, Ute
- Heise, Marisol
- Isidor, Bertrand
- Jarvis, Joanna
- Koehler, Udo
- Martin, Thomas
- Oehl-Jaschkowitz, Barbara
- Ortibus, Els
- Pilz, Daniela T
- Prabhakar, Prab
- Rappold, Gudrun
- Rau, Isabella
- Rettenberger, Günther
- Schlüter, Gregor
- Scott, Richard H
- Shoukier, Moonef
- Wohlleber, Eva
- Zirn, Birgit
- Dobyns, William B
- Uyanik, Gökhan
2011
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Klinische Pädiatrie, 2009-03, Vol.221 (2), p.97
2009
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Klinische Pädiatrie, 2005-03, Vol.217 (2), p.68-69
2005
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Aktuelle Neurologie, 2004, Vol.31 (S 1)
2004
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Klinische Pädiatrie, 2005-03, Vol.217 (2), p.68-69
2005
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Aktuelle Neurologie, 2007, Vol.34 (S 2)
2007
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American journal of human genetics, 2020-08, Vol.107 (2), p.311-324
- Manole, Andreea
- Efthymiou, Stephanie
- O’Connor, Emer
- Mendes, Marisa I.
- Jennings, Matthew
- Maroofian, Reza
- Davagnanam, Indran
- Mankad, Kshitij
- Lopez, Maria Rodriguez
- Salpietro, Vincenzo
- Harripaul, Ricardo
- Badalato, Lauren
- Walia, Jagdeep
- Francklyn, Christopher S.
- Athanasiou-Fragkouli, Alkyoni
- Sullivan, Roisin
- Desai, Sonal
- Baranano, Kristin
- Zafar, Faisal
- Rana, Nuzhat
- Ilyas, Muhammed
- Horga, Alejandro
- Kara, Majdi
- Mattioli, Francesca
- Goldenberg, Alice
- Griffin, Helen
- Piton, Amelie
- Henderson, Lindsay B.
- Kara, Benyekhlef
- Aslanger, Ayca Dilruba
- Raaphorst, Joost
- Pfundt, Rolph
- Portier, Ruben
- Shinawi, Marwan
- Kirby, Amelia
- Christensen, Katherine M.
- Wang, Lu
- Rosti, Rasim O.
- Paracha, Sohail A.
- Sarwar, Muhammad T.
- Jenkins, Dagan
- Ahmed, Jawad
- Santoni, Federico A.
- Ranza, Emmanuelle
- Iwaszkiewicz, Justyna
- Cytrynbaum, Cheryl
- Weksberg, Rosanna
- Wentzensen, Ingrid M.
- Guillen Sacoto, Maria J.
- Si, Yue
- Telegrafi, Aida
- Andrews, Marisa V.
- Baldridge, Dustin
- Gabriel, Heinz
- Mohr, Julia
- Oehl-Jaschkowitz, Barbara
- Debard, Sylvain
- Senger, Bruno
- Fischer, Frédéric
- van Ravenwaaij, Conny
- Fock, Annemarie J.M.
- Stevens, Servi J.C.
- Bähler, Jürg
- Nasar, Amina
- Mantovani, John F.
- Manzur, Adnan
- Sarkozy, Anna
- Smith, Desirée E.C.
- Salomons, Gajja S.
- Ahmed, Zubair M.
- Riazuddin, Shaikh
- Riazuddin, Saima
- Usmani, Muhammad A.
- Seibt, Annette
- Ansar, Muhammad
- Antonarakis, Stylianos E.
- Vincent, John B.
- Ayub, Muhammad
- Grimmel, Mona
- Jelsig, Anne Marie
- Hjortshøj, Tina Duelund
- Karstensen, Helena Gásdal
- Hummel, Marybeth
- Haack, Tobias B.
- Jamshidi, Yalda
- Distelmaier, Felix
- Horvath, Rita
- Gleeson, Joseph G.
- Becker, Hubert
- Mandel, Jean-Louis
- Koolen, David A.
- Houlden, Henry
2020
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Pediatric neurology, 2023-12, Vol.149, p.84-92
- Scorrano, Giovanna
- D'Onofrio, Gianluca
- Accogli, Andrea
- Severino, Mariasavina
- Buchert, Rebecca
- Kotzaeridou, Urania
- Iapadre, Giulia
- Farello, Giovanni
- Iacomino, Michele
- Dono, Fedele
- Di Francesco, Ludovica
- Fiorile, Maria Francesca
- La Bella, Saverio
- Corsello, Antonio
- Calì, Elisa
- Di Rosa, Gabriella
- Gitto, Eloisa
- Verrotti, Alberto
- Fortuna, Sara
- Soler, Miguel A.
- Chiarelli, Francesco
- Oehl-Jaschkowitz, Barbara
- Haack, Tobias B.
- Zara, Federico
- Striano, Pasquale
- Salpietro, Vincenzo
2023
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Genetics in medicine, 2019-09, Vol.21 (9), p.2160-2161
- Jansen, Sandra
- Vergano Samantha A
- Adachi-Fukuda Miho
- Alanay Yasemin
- AlKindy Adila
- Baban Anwar
- Bayat, Allan
- Beck-Wödl Stefanie
- Berry, Katherine
- Bijlsma, Emilia K
- Bok, Levinus A
- Brouwer Alwin F J
- van der Burgt Ineke
- Campeau, Philippe M
- Canham, Natalie
- Chrzanowska Krystyna
- Chu Yoyo W Y
- Chung Brain H Y
- Dahan, Karin
- De, Rademaeker Marjan
- Destree Anne
- Dudding-Byth Tracy
- Earl, Rachel
- Elcioglu Nursel
- Elias, Ellen R
- Gardham Alice
- Gener Blanca
- Gerkes, Erica H
- Grasshoff Ute
- van Haeringen Arie
- Heitink, Karin R
- Herkert, Johanna C
- den Hollander Nicolette S
- Horn, Denise
- Hunt, David
- Kato Mitsuhiro
- Kayserili Hülya
- Kersseboom Rogier
- Kilic Esra
- Krajewska-Walasek Malgorzata
- Lammers Kylin
- Laulund, Lone W
- Lederer, Damien
- Lees, Melissa
- López-González Vanesa
- Maas Saskia
- Mancini, Grazia M
- Marcelis, Carlo
- Martinez, Francisco
- Maystadt Isabelle
- McGuire, Marianne
- McKee, Shane
- Mehta Sarju
- Metcalfe, Kay
- Milunsky, Jeff
- Mizuno Seiji
- Moeschler, John B
- Netzer, Christian
- Ockeloen, Charlotte W
- Oehl-Jaschkowitz Barbara
- Okamoto Nobuhiko
- Olminkhof Sharon N M
- Pasquier, Laurent
- Pottinger, Caroline
- Riehmer Vera
- Robertson, Stephen P
- Roifman Maian
- Rooryck Caroline
- Ropers, Fabienne G
- Rosello, Monica
- Ruivenkamp Claudia A L
- Sagiroglu, Mahmut S
- Sallevelt Suzanne C E H
- Calvo, Amparo Sanchis
- Simsek-Kiper, Pelin O
- Soares, Gabriela
- Solaeche Lucia
- Sonmez Fatma Mujgan
- Splitt Miranda
- Steenbeek Duco
- Stegmann Alexander P A
- Stumpel Constance T R M
- Tanabe Saori
- Eyyup, Uctepe
- Eda, Utine G
- Veenstra-Knol, Hermine E
- Venkateswaran Sunita
- Vilain Catheline
- Vincent-Delorme, Catherine
- Wheeler, Patricia
- Wilson, Golder N
- Wilson, Louise C
- Wollnik Bernd
- Kosho Tomoki
- Wieczorek Dagmar
- Eichler, Evan
- Rolph, Pfundt
- de Vries Bert B A
- Clayton-Smith, Jill
- Santen Gijs W E
2019
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