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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
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
Link zum Volltext
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 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
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
- Ha, Thoa
- Morgan, Angela
- Bartos, Meghan N
- Beatty, Katelyn
- Cogné, Benjamin
- Braun, Dominique
- Gerber, Céline B
- Gaspar, Harald
- Kopps, Anna M
- Rieubland, Claudine
- Hurst, Anna C E
- Amor, David J
- Nizon, Mathilde
- Pasquier, Laurent
- Pfundt, Rolph
- Reis, André
- Siu, Victoria Mok
- Tessarech, Marine
- Thompson, Michelle L
- Vincent, Marie
- de Vries, Bert B A
- Walsh, Matthew B
- Wechsler, Stephanie Burns
- Zweier, Christiane
- Schnur, Rhonda E
- Guillen Sacoto, Maria J
- Margot, Henri
- Masotto, Barbara
- Palafoll, Maria Irene Valenzuela
- Nawaz, Urwah
- Voineagu, Irina
- Slavotinek, Anne
2024
Link zum Volltext
Klinische Padiatrie, 2024-02, Vol.236 (2), p.145
2024
Link zum Volltext
European journal of human genetics : EJHG, 2024-02
- 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
Journal of vascular anomalies (Philadelphia, Pa.), 2023-12, Vol.4 (4), p.e076
2023
Link zum Volltext
Genetics in medicine, 2023-08, Vol.25 (8), p.100885-100885, Article 100885
- Langhammer, Franziska
- Maroofian, Reza
- Badar, Rueda
- Gregor, Anne
- Rochman, Michelle
- Ratliff, Jeffrey B.
- Koopmans, Marije
- Herget, Theresia
- Hempel, Maja
- Kortüm, Fanny
- Heron, Delphine
- Mignot, Cyril
- Keren, Boris
- Brooks, Susan
- Botti, Christina
- Ben-Zeev, Bruria
- Argilli, Emanuela
- Sherr, Elliot H.
- Gowda, Vykuntaraju K.
- Srinivasan, Varunvenkat M.
- Bakhtiari, Somayeh
- Kruer, Michael C.
- Salih, Mustafa A.
- Kuechler, Alma
- Muller, Eric A.
- Blocker, Karli
- Kuismin, Outi
- Park, Kristen L.
- Kochhar, Aaina
- Brown, Kathleen
- Ramanathan, Subhadra
- Clark, Robin D.
- Elgizouli, Magdeldin
- Melikishvili, Gia
- Tabatadze, Nazhi
- Stark, Zornitza
- Mirzaa, Ghayda M.
- Ong, Jinfon
- Grasshoff, Ute
- Bevot, Andrea
- von Wintzingerode, Lydia
- Jamra, Rami A.
- Hennig, Yvonne
- Goldenberg, Paula
- Al Alam, Chadi
- Charif, Majida
- Boulouiz, Redouane
- Bellaoui, Mohammed
- Amrani, Rim
- Al Mutairi, Fuad
- Tamim, Abdullah M.
- Abdulwahab, Firdous
- Alkuraya, Fowzan S.
- Khouj, Ebtissal M.
- Alvi, Javeria R.
- Sultan, Tipu
- Hashemi, Narges
- Karimiani, Ehsan G.
- Ashrafzadeh, Farah
- Imannezhad, Shima
- Efthymiou, Stephanie
- Houlden, Henry
- Sticht, Heinrich
- Zweier, Christiane
2023
Link zum Volltext
Genetics in medicine, 2023-07, Vol.25 (7), p.100839-100839, Article 100839
- Schmid, Cosima M.
- Gregor, Anne
- Costain, Gregory
- Morel, Chantal F.
- Massingham, Lauren
- Schwab, Jennifer
- Quélin, Chloé
- Faoucher, Marie
- Kaplan, Julie
- Procopio, Rebecca
- Saunders, Carol J.
- Cohen, Ana S.A.
- Lemire, Gabrielle
- Sacharow, Stephanie
- O’Donnell-Luria, Anne
- Segal, Ranit Jaron
- Kianmahd Shamshoni, Jessica
- Schweitzer, Daniela
- Ebrahimi-Fakhari, Darius
- Monaghan, Kristin
- Palculict, Timothy Blake
- Napier, Melanie P.
- Tao, Alice
- Isidor, Bertrand
- Moradkhani, Kamran
- Reis, André
- Sticht, Heinrich
- Chung, Wendy K.
- Zweier, Christiane
2023
Link zum Volltext
Journal of medical genetics, 2023-06, Vol.60 (6), p.597
- Morison, Lottie D
- Meffert, Elisabeth
- Stampfer, Miriam
- Steiner-Wilke, Irene
- Vollmer, Brigitte
- Schulze, Katrin
- Briggs, Tracy
- Braden, Ruth
- Vogel, Adam
- Thompson-Lake, Daisy
- Patel, Chirag
- Blair, Edward
- Goel, Himanshu
- Turner, Samantha
- Moog, Ute
- Riess, Angelika
- Liegeois, Frederique
- Koolen, David A
- Amor, David J
- Kleefstra, Tjitske
- Fisher, Simon E
- Zweier, Christiane
- Morgan, Angela T
2023
Link zum Volltext
The Journal of clinical investigation, 2023-05, Vol.133 (10), p.1-16
- Gehin, Charlotte
- Lone, Museer A
- Lee, Winston
- Capolupo, Laura
- Ho, Sylvia
- Adeyemi, Adekemi M
- Gerkes, Erica H
- Stegmann, Alexander Pa
- López-Martín, Estrella
- Bermejo-Sánchez, Eva
- Martínez-Delgado, Beatriz
- Zweier, Christiane
- Kraus, Cornelia
- Popp, Bernt
- Strehlow, Vincent
- Gräfe, Daniel
- Knerr, Ina
- Jones, Eppie R
- Zamuner, Stefano
- Abriata, Luciano A
- Kunnathully, Vidya
- Moeller, Brandon E
- Vocat, Anthony
- Rommelaere, Samuel
- Bocquete, Jean-Philippe
- Ruchti, Evelyne
- Limoni, Greta
- Van Campenhoudt, Marine
- Bourgeat, Samuel
- Henklein, Petra
- Gilissen, Christian
- van Bon, Bregje W
- Pfundt, Rolph
- Willemsen, Marjolein H
- Schieving, Jolanda H
- Leonardi, Emanuela
- Soli, Fiorenza
- Murgia, Alessandra
- Guo, Hui
- Zhang, Qiumeng
- Xia, Kun
- Fagerberg, Christina R
- Beier, Christoph P
- Larsen, Martin J
- Valenzuela, Irene
- Fernández-Álvarez, Paula
- Xiong, Shiyi
- Śmigiel, Robert
- López-González, Vanesa
- Armengol, Lluís
- Morleo, Manuela
- Selicorni, Angelo
- Torella, Annalaura
- Blyth, Moira
- Cooper, Nicola S
- Wilson, Valerie
- Oegema, Renske
- Herenger, Yvan
- Garde, Aurore
- Bruel, Ange-Line
- Tran Mau-Them, Frederic
- Maddocks, Alexis Br
- Bain, Jennifer M
- Bhat, Musadiq A
- Costain, Gregory
- Kannu, Peter
- Marwaha, Ashish
- Champaigne, Neena L
- Friez, Michael J
- Richardson, Ellen B
- Gowda, Vykuntaraju K
- Srinivasan, Varunvenkat M
- Gupta, Yask
- Lim, Tze Y
- Sanna-Cherchi, Simone
- Lemaitre, Bruno
- Yamaji, Toshiyuki
- Hanada, Kentaro
- Burke, John E
- Jakšić, Ana Marjia
- McCabe, Brian D
- De Los Rios, Paolo
- Hornemann, Thorsten
- D'Angelo, Giovanni
- Gennarino, Vincenzo A
2023
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
- 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
Link zum Volltext
Clinical genetics, 2022-12, Vol.102 (6), p.517-523
2022
Link zum Volltext
Clinical genetics, 2022-09, Vol.102 (3), p.182-190
2022
Link zum Volltext
Frontiers in cardiovascular medicine, 2022-07, Vol.9, p.916036-916036
2022
Link zum Volltext
Developmental medicine and child neurology, 2022-04, Vol.64 (4), p.509-517
- Ruaud, Lyse
- Drunat, Séverine
- Elmaleh‐Bergès, Monique
- Ernault, Anais
- Guilmin Crepon, Sophie
- El Ghouzzi, Vincent
- Auvin, Stéphane
- Verloes, Alain
- Passemard, Sandrine
- Van Maldergem, Lionel
- Engel, Camille
- Altuzarra, Cecilia
- Lamidieu, Charlie
- Bayat, Allan
- Moortgat, Stéphanie
- Pelc, Karine
- Maystadt, Isabelle
- Abramowicz, Marc
- Pirson, Isabelle
- Duerinckx, Sarah
- Rostomashvili, Nino
- Zweier, Christiane
- Abou Jamra, Rami
- Lorenz, Imke
- Haye, Damien
- Zaafrane‐Khachnaoui, Khaoula
- Vaessen, Sandrine
- Capri, Yline
- Servais, Laurent
- Di Maria, Emilio
- Kohlhase, Jürgen
- Bast, Thomas
- Miladi, Najoua
- Dali, Selma
2022
Link zum Volltext
Human molecular genetics, 2022-02, Vol.31 (3), p.440-454
- Gregor, Anne
- Meerbrei, Tanja
- Gerstner, Thorsten
- Toutain, Annick
- Lynch, Sally Ann
- Stals, Karen
- Maxton, Caroline
- Lemke, Johannes R
- Bernat, John A
- Bombei, Hannah M
- Foulds, Nicola
- Hunt, David
- Kuechler, Alma
- Beygo, Jasmin
- Stöbe, Petra
- Bouman, Arjan
- Palomares-Bralo, Maria
- Santos-Simarro, Fernando
- Garcia-Minaur, Sixto
- Pacio-Miguez, Marta
- Popp, Bernt
- Vasileiou, Georgia
- Hebebrand, Moritz
- Reis, André
- Schuhmann, Sarah
- Krumbiegel, Mandy
- Brown, Natasha J
- Sparber, Peter
- Melikyan, Lyusya
- Bessonova, Liudmila
- Cherevatova, Tatiana
- Sharkov, Artem
- Shcherbakova, Natalia
- Dabir, Tabib
- Kini, Usha
- Schwaibold, Eva M C
- Haack, Tobias B
- Bertoli, Marta
- Hoffjan, Sabine
- Falb, Ruth
- Shinawi, Marwan
- Sticht, Heinrich
- Zweier, Christiane
2022
Link zum Volltext
American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.292-297
2022
Link zum Volltext
American journal of medical genetics. Part A, 2022, Vol.188 (1), p.292-297
2022
Link zum Volltext
Molecular cell, 2021-11, Vol.81 (22), p.4757-4757
- Liu, Sanxiong
- Aldinger, Kimberly A.
- Cheng, Chi Vicky
- Kiyama, Takae
- Dave, Mitali
- McNamara, Hanna K.
- Zhao, Wukui
- Stafford, James M.
- Descostes, Nicolas
- Lee, Pedro
- Caraffi, Stefano G.
- Ivanovski, Ivan
- Errichiello, Edoardo
- Zweier, Christiane
- Zuffardi, Orsetta
- Schneider, Michael
- Papavasiliou, Antigone S.
- Perry, M. Scott
- Humberson, Jennifer
- Cho, Megan T.
- Weber, Astrid
- Swale, Andrew
- Badea, Tudor C.
- Mao, Chai-An
- Garavelli, Livia
- Dobyns, William B.
- Reinberg, Danny
2021
Link zum Volltext
Molecular cell, 2021-11, Vol.81 (22), p.4663-4676.e8
- Liu, Sanxiong
- Aldinger, Kimberly A.
- Cheng, Chi Vicky
- Kiyama, Takae
- Dave, Mitali
- McNamara, Hanna K.
- Zhao, Wukui
- Stafford, James M.
- Descostes, Nicolas
- Lee, Pedro
- Caraffi, Stefano G.
- Ivanovski, Ivan
- Errichiello, Edoardo
- Zweier, Christiane
- Zuffardi, Orsetta
- Schneider, Michael
- Papavasiliou, Antigone S.
- Perry, M. Scott
- Humberson, Jennifer
- Cho, Megan T.
- Weber, Astrid
- Swale, Andrew
- Badea, Tudor C.
- Mao, Chai-An
- Garavelli, Livia
- Dobyns, William B.
- Reinberg, Danny
2021
Link zum Volltext
Clinical genetics, 2021-10, Vol.100 (4), p.412-429
- Oates, Stephanie
- Absoud, Michael
- Goyal, Sushma
- Bayley, Sophie
- Baulcomb, Jennifer
- Sims, Annemarie
- Riddett, Amy
- Allis, Katrina
- Brasch‐Andersen, Charlotte
- Balasubramanian, Meena
- Bai, Renkui
- Callewaert, Bert
- Hüffmeier, Ulrike
- Le Duc, Diana
- Radtke, Maximilian
- Korff, Christian
- Kennedy, Joanna
- Low, Karen
- Møller, Rikke S.
- Nielsen, Jens Erik Klint
- Popp, Bernt
- Quteineh, Lina
- Rønde, Gitte
- Schönewolf‐Greulich, Bitten
- Shillington, Amelle
- Taylor, Matthew RG
- Todd, Emily
- Torring, Pernille M.
- Tümer, Zeynep
- Vasileiou, Georgia
- Yates, T. Michael
- Zweier, Christiane
- Rosch, Richard
- Basson, M. Albert
- Pal, Deb K.
2021
Link zum Volltext
Application of clinical genetics, 2021-09, Vol.14, p.389
2021
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