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American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2761-2764
2020
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Journal of vascular anomalies (Philadelphia, Pa.), 2023-12, Vol.4 (4), p.e076
2023
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Medizinische Genetik, 2015-12, Vol.27 (4), p.362-368
2015
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Medizinische Genetik, 2018-11, Vol.30 (3), p.334-341
2018
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Medizinische Genetik, 2018, Vol.30 (3), p.305-305
2018
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- Adam, Melanie
- Barrett, Brian Fergus
- Bergmann, Thomas
- Bienstein, Pia
- Camatta, Rosemarie
- Conty, Marieke
- Diefenbacher, Albert
- Georgescu, Dan
- Styp von Rekowski, Anne
- Döhle, Rainer
- Elstner, Samuel
- Feuerherd, Christian
- Gaese, Franziska
- Pohler, Birgit
- Glasenapp, Jan
- Grimmer, Anja
- Hoffmann, Knut
- Kaminski, Maria
- Klauß, Theo
- Kruse, Björn
- Reiprich, Frauke
- Martin, Peter
- Meir, Stefan
- Müller, Sandra-Verena
- Kuske, Bettina
- Preißmann, Christine
- Sappok, Tanja
- Schanze, Christian
- Schmidt, Bernd
- Seidel, Michael
- Steffen, Monika
- Sterkenburg, Paula
- Stockmann, Jörg
- Theunissen, Georg
- Vogel, Marcus
- Wagner, Jessica
- Walter-Fränkel, Sabine
- Weber, Germain
- Rittmannsberger, Doris
- Lueger-Schuster, Brigitte
- Zepperitz, Sabine
- Zweier, Christiane
- Berger, Ernst
- Franke, Miriam Leona
- Poppele, Georg
- Schmalhofer, Anton
- Werner, Natalie
- Antener, Gabriela
- Büschi, Eva
- Calabrese, Stefania
- Dekker-van der Sande, Francien
- Fabian, Regina
- Fellinger, Johannes
- Hennicke, Klaus
- Hermann, Hauke
- Liesegang, Jörg
- Lytochkin, Aleksey
- Pichler, Katharina
- Schwabl, Janina
- Voß, Tatjana
- Wehmeyer, Meike
2nd ed., 2023
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Medizinische Genetik, 2019-11, Vol.31 (3), p.335-343
2019
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American journal of human genetics, 2015-09, Vol.97 (3), p.445-456
2015
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American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2737-2741
2020
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Brain (London, England : 1878), 2024-05, Vol.147 (5), p.1837-1855
- Rinaldi, Berardo
- Bayat, Allan
- Zachariassen, Linda G
- Sun, Jia-Hui
- Ge, Yu-Han
- Zhao, Dan
- Bonde, Kristine
- Madsen, Laura H
- Awad, Ilham Abdimunim Ali
- Bagiran, Duygu
- Sbeih, Amal
- Shah, Syeda Maidah
- El-Sayed, Shaymaa
- Lyngby, Signe M
- Pedersen, Miriam G
- Stenum-Berg, Charlotte
- Walker, Louise Claudia
- Krey, Ilona
- Delahaye-Duriez, Andrée
- Emrick, Lisa T
- Sully, Krystal
- Murali, Chaya N
- Burrage, Lindsay C
- Plaud Gonzalez, Julie Ana
- Parnes, Mered
- Friedman, Jennifer
- Isidor, Bertrand
- Lefranc, Jérémie
- Redon, Sylvia
- Heron, Delphine
- Mignot, Cyril
- Keren, Boris
- Fradin, Mélanie
- Dubourg, Christele
- Mercier, Sandra
- Besnard, Thomas
- Cogne, Benjamin
- Deb, Wallid
- Rivier, Clotilde
- Milani, Donatella
- Bedeschi, Maria Francesca
- Di Napoli, Claudia
- Grilli, Federico
- Marchisio, Paola
- Koudijs, Suzanna
- Veenma, Danielle
- Argilli, Emanuela
- Lynch, Sally Ann
- Au, Ping Yee Billie
- Ayala Valenzuela, Fernando Eduardo
- Brown, Carolyn
- Masser-Frye, Diane
- Jones, Marilyn
- Patron Romero, Leslie
- Li, Wenhui Laura
- Thorpe, Erin
- Hecher, Laura
- Johannsen, Jessika
- Denecke, Jonas
- McNiven, Vanda
- Szuto, Anna
- Wakeling, Emma
- Cruz, Vincent
- Sency, Valerie
- Wang, Heng
- Piard, Juliette
- Kortüm, Fanny
- Herget, Theresia
- Bierhals, Tatjana
- Condell, Angelo
- Ben-Zeev, Bruria
- Kaur, Simranpreet
- Christodoulou, John
- Piton, Amelie
- Zweier, Christiane
- Kraus, Cornelia
- Micalizzi, Alessia
- Trivisano, Marina
- Specchio, Nicola
- Lesca, Gaetan
- Møller, Rikke S
- Tümer, Zeynep
- Musgaard, Maria
- Gerard, Benedicte
- Lemke, Johannes R
- Shi, Yun Stone
- Kristensen, Anders S
2024
Link zum Volltext
European journal of medical genetics, 2024-06, Vol.69, p.104932-104932, Article 104932
- de Masfrand, Servane
- Cogné, Benjamin
- Nizon, Mathilde
- Deb, Wallid
- Goldenberg, Alice
- Lecoquierre, François
- Nicolas, Gaël
- Bournez, Marie
- Vitobello, Antonio
- Mau-Them, Frédéric Tran
- le Guyader, Gwenaël
- Bilan, Frédéric
- Bauer, Peter
- Zweier, Christiane
- Piard, Juliette
- Pasquier, Laurent
- Bézieau, Stéphane
- Gerard, Bénédicte
- Faivre, Laurence
- Saugier-Veber, Pascale
- Piton, Amélie
- Isidor, Bertrand
2024
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Application of clinical genetics, 2021-09, Vol.14, p.389
2021
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Application of clinical genetics, 2021-09, Vol.14, p.389
2021
Link zum Volltext
- Sappok, Tanja
- Adam, Melanie
- Barrett, Brian Fergus
- Bergmann, Thomas
- Bienstein, Pia
- Camatta, Rosemarie
- Conty, Marieke
- Diefenbacher, Albert
- Georgescu, Dan
- Rekowski, Anne Styp von
- Dohle, Rainer
- Elstner, Samuel
- Feuerherd, Christian
- Gaese, Franziska
- Pohler, Birgit
- Glasenapp, Jan
- Grimmer, Anja
- Hoffmann, Knut
- Kaminski, Maria
- Klau, Theo
- Kruse, Bjorn
- Reiprich, Frauke
- Martin, Peter
- Meir, Stefan
- Muller, Sandra-Verena
- Kuske, Bettina
- Preimann, Christine
- Schanze, Christian
- Schmidt, Bernd
- Seidel, Michael
- Steffen, Monika
- Sterkenburg, Paula
- Stockmann, Jorg
- Theunissen, Georg
- Vogel, Marcus
- Wagner, Jessica
- Walter-Frankel, Sabine
- Weber, Germain
- Rittmannsberger, Doris
- Lueger-Schuster, Brigitte
- Zepperitz, Sabine
- Zweier, Christiane
- Berger, Ernst
- Franke, Miriam Leona
- Poppele, Georg
- Schmalhofer, Anton
- Werner, Natalie
- Antener, Gabriela
- Buschi, Eva
- Calabrese, Stefania
- Sande, Francien Dekker-van der
- Fabian, Regina
- Fellinger, Johannes
- Hennicke, Klaus
- Hermann, Hauke
- Liesegang, Jorg
- Lytochkin, Aleksey
- Pichler, Katharina
- Schwabl, Janina
- Vo, Tatjana
- Wehmeyer, Meike
2023
Link zum Volltext
American journal of human genetics, 2015-09, Vol.97 (3), p.445
2015
Link zum Volltext
- Adam, Melanie
- Barrett, Brian Fergus
- Bergmann, Thomas
- Bienstein, Pia
- Camatta, Rosemarie
- Conty, Marieke
- Conty, Michael
- Diefenbacher, Albert
- Georgescu, Dan
- Styp von Rekowski, Anne
- Döhle, Rainer
- Elstner, Samuel
- Feuerherd, Christian
- Gaese, Franziska
- Wehmeyer, Meike
- Pohler, Birgit
- Glasenapp, Jan
- Grimmer, Anja
- Hoffmann, Knut
- Kaminski, Maria
- Klauß, Theo
- Kruse, Björn
- Liesegang, Jörg
- Reiprich, Frauke
- Martin, Peter
- Meir, Stefan
- Müller, Sandra-Verena
- Kuske, Bettina
- Preißmann, Christine
- Sappok, Tanja
- Schanze, Christian
- Schmidt, Bernd
- Seidel, Michael
- Steffen, Monika
- Sterkenburg, Paula
- Dekker, Francien
- Stockmann, Jörg
- Theunissen, Georg
- Vogel, Marcus
- Wagner, Jessica
- Walter-Fränkel, Sabine
- Weber, Germain
- Rittmansberger, Doris
- Lueger-Schuster, Brigitte
- Zepperitz, Sabine
- Zweier, Christiane
- Berger, Ernst
- Franke, Miriam Leona
- Pöld-Krämer, Silvia
- Poppele, Georg
- Schmalhofer, Anton
- Schossleitner, Katharina
- Werner, Natalie
- Böckers, Baja
- Bürkmann-Gehrlein, Klaus
- Gutsche-Lindner, Annete
- Hildebrandt, Horst
- Mewis, Roswita
- Neitzel, Rosemarie
- Niemann, Lars
- Stellmacher, Kerstin
- Wellemeyer, Andrea
1st ed., 2019
Link zum Volltext
Nature communications, 2019-05, Vol.10 (1), p.2079-2079, Article 2079
- Snijders Blok, Lot
- Rousseau, Justine
- Twist, Joanna
- Ehresmann, Sophie
- Takaku, Motoki
- Venselaar, Hanka
- Rodan, Lance H
- Nowak, Catherine B
- Douglas, Jessica
- Swoboda, Kathryn J
- Steeves, Marcie A
- Sahai, Inderneel
- Stumpel, Connie T R M
- Stegmann, Alexander P A
- Wheeler, Patricia
- Willing, Marcia
- Fiala, Elise
- Kochhar, Aaina
- Gibson, William T
- Cohen, Ana S A
- Agbahovbe, Ruky
- Innes, A Micheil
- Au, P Y Billie
- Rankin, Julia
- Anderson, Ilse J
- Skinner, Steven A
- Louie, Raymond J
- Warren, Hannah E
- Afenjar, Alexandra
- Keren, Boris
- Nava, Caroline
- Buratti, Julien
- Isapof, Arnaud
- Rodriguez, Diana
- Lewandowski, Raymond
- Propst, Jennifer
- van Essen, Ton
- Choi, Murim
- Lee, Sangmoon
- Chae, Jong H
- Price, Susan
- Schnur, Rhonda E
- Douglas, Ganka
- Wentzensen, Ingrid M
- Zweier, Christiane
- Reis, André
- Bialer, Martin G
- Moore, Christine
- Koopmans, Marije
- Brilstra, Eva H
- Monroe, Glen R
- van Gassen, Koen L I
- van Binsbergen, Ellen
- Newbury-Ecob, Ruth
- Bownass, Lucy
- Bader, Ingrid
- Mayr, Johannes A
- Wortmann, Saskia B
- Jakielski, Kathy J
- Strand, Edythe A
- Kloth, Katja
- Bierhals, Tatjana
- Roberts, John D
- Petrovich, Robert M
- Machida, Shinichi
- Kurumizaka, Hitoshi
- Lelieveld, Stefan
- Pfundt, Rolph
- Jansen, Sandra
- Deriziotis, Pelagia
- Faivre, Laurence
- Thevenon, Julien
- Assoum, Mirna
- Shriberg, Lawrence
- Kleefstra, Tjitske
- Brunner, Han G
- Wade, Paul A
- Fisher, Simon E
- Campeau, Philippe M
2019
Link zum Volltext
The Journal of cell biology, 2015-11, Vol.211 (3), p.2113
2015
Link zum Volltext
European journal of human genetics : EJHG, 2024-04
- Paulet, Alix
- Bennett-Ness, Cavan
- Ageorges, Faustine
- Trost, Detlef
- Green, Andrew
- Goudie, David
- Jewell, Rosalyn
- Kraatari-Tiri, Minna
- Piard, Juliette
- Coubes, Christine
- Lam, Wayne
- Lynch, Sally Ann
- Groeschel, Samuel
- Ramond, Francis
- Fluss, Joël
- Fagerberg, Christina
- Brasch Andersen, Charlotte
- Varvagiannis, Konstantinos
- Kleefstra, Tjitske
- Gérard, Bénédicte
- Fradin, Mélanie
- Vitobello, Antonio
- Tenconi, Romano
- Denommé-Pichon, Anne-Sophie
- Vincent-Devulder, Aline
- Haack, Tobias
- Marsh, Joseph A
- Laulund, Lone Walentin
- Grimmel, Mona
- Riess, Angelika
- de Boer, Elke
- Padilla-Lopez, Sergio
- Bakhtiari, Somayeh
- Ostendorf, Adam
- Zweier, Christiane
- Smol, Thomas
- Willems, Marjolaine
- Faivre, Laurence
- Scala, Marcello
- Striano, Pasquale
- Bagnasco, Irene
- Koboldt, Daniel
- Iascone, Maria
- Suerink, Manon
- Kruer, Michael C
- Levy, Jonathan
- Verloes, Alain
- Abbott, Catherine M
- Ruaud, Lyse
2024
Link zum Volltext
Nature communications, 2019-02, Vol.10 (1), p.883-4, Article 883
- Blok, Lot Snijders
- Rousseau, Justine
- Twist, Joanna
- Ehresmann, Sophie
- Takaku, Motoki
- Venselaar, Hanka
- Rodan, Lance H
- Nowak, Catherine B
- Douglas, Jessica
- Swoboda, Kathryn J
- Steeves, Marcie A
- Sahai, Inderneel
- Stumpel, Connie T R M
- Stegmann, Alexander P A
- Wheeler, Patricia
- Willing, Marcia
- Fiala, Elise
- Kochhar, Aaina
- Gibson, William T
- Cohen, Ana S A
- Agbahovbe, Ruky
- Innes, A Micheil
- Au, P Y Billie
- Rankin, Julia
- Anderson, Ilse J
- Skinner, Steven A
- Louie, Raymond J
- Warren, Hannah E
- Afenjar, Alexandra
- Keren, Boris
- Nava, Caroline
- Buratti, Julien
- Isapof, Arnaud
- Rodriguez, Diana
- Lewandowski, Raymond
- Propst, Jennifer
- van Essen, Ton
- Choi, Murim
- Lee, Sangmoon
- Chae, Jong H
- Price, Susan
- Schnur, Rhonda E
- Douglas, Ganka
- Wentzensen, Ingrid M
- Zweier, Christiane
- Reis, André
- Bialer, Martin G
- Moore, Christine
- Koopmans, Marije
- Brilstra, Eva H
- Monroe, Glen R
- van Gassen, Koen L I
- van Binsbergen, Ellen
- Newbury-Ecob, Ruth
- Bownass, Lucy
- Bader, Ingrid
- Mayr, Johannes A
- Wortmann, Saskia B
- Jakielski, Kathy J
- Strand, Edythe A
- Kloth, Katja
- Bierhals, Tatjana
- Roberts, John D
- Petrovich, Robert M
- Machida, Shinichi
- Kurumizaka, Hitoshi
- Lelieveld, Stefan
- Pfundt, Rolph
- Jansen, Sandra
- Deriziotis, Pelagia
- Faivre, Laurence
- Thevenon, Julien
- Assoum, Mirna
- Shriberg, Lawrence
- Kleefstra, Tjitske
- Brunner, Han G
- Wade, Paul A
- Fisher, Simon E
- Campeau, Philippe M
2019
Link zum Volltext
HGG advances, 2024-07, Vol.5 (3), p.100289-100289, Article 100289
- van der Laan, Liselot
- Lauffer, Peter
- Rooney, Kathleen
- Silva, Ananília
- Haghshenas, Sadegheh
- Relator, Raissa
- Levy, Michael A.
- Trajkova, Slavica
- Huisman, Sylvia A.
- Bijlsma, Emilia K.
- Kleefstra, Tjitske
- van Bon, Bregje W.
- Baysal, Özlem
- Zweier, Christiane
- Palomares-Bralo, María
- Fischer, Jan
- Szakszon, Katalin
- Faivre, Laurence
- Piton, Amélie
- Mesman, Simone
- Hochstenbach, Ron
- Elting, Mariet W.
- van Hagen, Johanna M.
- Plomp, Astrid S.
- Mannens, Marcel M.A.M.
- Alders, Mariëlle
- van Haelst, Mieke M.
- Ferrero, Giovanni B.
- Brusco, Alfredo
- Henneman, Peter
- Sweetser, David A.
- Sadikovic, Bekim
- Vitobello, Antonio
- Menke, Leonie A.
2024
Link zum Volltext
Genetics in medicine, 2018-02, Vol.20 (10), p.1175-1185
- Johnston, Jennifer J.
- van der Smagt, Jasper J.
- Rosenfeld, Jill A.
- Pagnamenta, Alistair T.
- Alswaid, Abdulrahman
- Baker, Eva H.
- Blair, Edward
- Borck, Guntram
- Brinkmann, Julia
- Craigen, William
- Dung, Vu Chi
- Emrick, Lisa
- Everman, David B.
- van Gassen, Koen L.
- Gulsuner, Suleyman
- Harr, Margaret H.
- Jain, Mahim
- Kuechler, Alma
- Leppig, Kathleen A.
- McDonald-McGinn, Donna M.
- Ngoc, Can Thi Bich
- Peleg, Amir
- Roeder, Elizabeth R.
- Rogers, R. Curtis
- Sagi-Dain, Lena
- Sapp, Julie C.
- Schäffer, Alejandro A.
- Schanze, Denny
- Stewart, Helen
- Taylor, Jenny C.
- Verbeek, Nienke E.
- Walkiewicz, Magdalena A.
- Zackai, Elaine H.
- Zweier, Christiane
- Zenker, Martin
- Lee, Brendan
- Biesecker, Leslie G.
2018
Link zum Volltext
PLoS genetics, 2013-10, Vol.9 (10)
2013
Link zum Volltext
American journal of human genetics, 2012, Vol.90 (3), p.565-572
2012
Link zum Volltext
European journal of medical genetics, 2008-07, Vol.51 (4), p.358-361
2008
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