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Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. [electronic resource] by
- Ferrarini, Alessandra
- Gaillard, Muriel
- Guerry, Frederic
- Ramelli, Gianpaolo
- Heidi, Fodstad
- Keddache, Caroline Verley
- Wieland, Ilse
- Beckmann, Jacques S
- Jaquemont, Sébastien
- Martinet, Danielle
Producer: 20140911
In:
American journal of medical genetics. Part A vol. 164A
Availability: No items available.
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29.
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Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53. [electronic resource] by
- Ferrarini, Alessandra
- Auteri-Kaczmarek, Agnes
- Pica, Alessia
- Boesch, Nemya
- Heinimann, Karl
- Schäfer, Stephan C
- Vesnaver-Megalo, Sara
- Cina, Viviane
- Beckmann, Jacques S
- Monnerat, Christian
Producer: 20111003
In:
Familial cancer vol. 10
Availability: No items available.
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30.
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A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome. [electronic resource] by
- Zollino, Marcella
- Lecce, Rosetta
- Selicorni, Angelo
- Murdolo, Marina
- Mancuso, Irene
- Marangi, Giuseppe
- Zampino, Giuseppe
- Garavelli, Livia
- Ferrarini, Alessandra
- Rocchi, Mariano
- Opitz, John M
- Neri, Giovanni
Producer: 20050331
In:
European journal of human genetics : EJHG vol. 12
Availability: No items available.
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31.
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Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. [electronic resource] by
- Gervasini, Cristina
- Russo, Silvia
- Cereda, Anna
- Parenti, Ilaria
- Masciadri, Maura
- Azzollini, Jacopo
- Melis, Daniela
- Aravena, Teresa
- Doray, Bérénice
- Ferrarini, Alessandra
- Garavelli, Livia
- Selicorni, Angelo
- Larizza, Lidia
Producer: 20140731
In:
American journal of medical genetics. Part A vol. 161A
Availability: No items available.
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32.
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. [electronic resource] by
- Van der Aa, Nathalie
- Rooms, Liesbeth
- Vandeweyer, Geert
- van den Ende, Jenneke
- Reyniers, Edwin
- Fichera, Marco
- Romano, Corrado
- Delle Chiaie, Barbara
- Mortier, Geert
- Menten, Björn
- Destrée, Anne
- Maystadt, Isabelle
- Männik, Katrin
- Kurg, Ants
- Reimand, Tiia
- McMullan, Dom
- Oley, Christine
- Brueton, Louise
- Bongers, Ernie M H F
- van Bon, Bregje W M
- Pfund, Rolph
- Jacquemont, Sebastien
- Ferrarini, Alessandra
- Martinet, Danielle
- Schrander-Stumpel, Connie
- Stegmann, Alexander P A
- Frints, Suzanna G M
- de Vries, Bert B A
- Ceulemans, Berten
- Kooy, R Frank
Producer: 20090901
In:
European journal of medical genetics vol. 52
Availability: No items available.
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33.
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. [electronic resource] by
- O'Donnell-Luria, Anne H
- Pais, Lynn S
- Faundes, Víctor
- Wood, Jordan C
- Sveden, Abigail
- Luria, Victor
- Abou Jamra, Rami
- Accogli, Andrea
- Amburgey, Kimberly
- Anderlid, Britt Marie
- Azzarello-Burri, Silvia
- Basinger, Alice A
- Bianchini, Claudia
- Bird, Lynne M
- Buchert, Rebecca
- Carre, Wilfrid
- Ceulemans, Sophia
- Charles, Perrine
- Cox, Helen
- Culliton, Lisa
- Currò, Aurora
- Demurger, Florence
- Dowling, James J
- Duban-Bedu, Benedicte
- Dubourg, Christèle
- Eiset, Saga Elise
- Escobar, Luis F
- Ferrarini, Alessandra
- Haack, Tobias B
- Hashim, Mona
- Heide, Solveig
- Helbig, Katherine L
- Helbig, Ingo
- Heredia, Raul
- Héron, Delphine
- Isidor, Bertrand
- Jonasson, Amy R
- Joset, Pascal
- Keren, Boris
- Kok, Fernando
- Kroes, Hester Y
- Lavillaureix, Alinoë
- Lu, Xin
- Maas, Saskia M
- Maegawa, Gustavo H B
- Marcelis, Carlo L M
- Mark, Paul R
- Masruha, Marcelo R
- McLaughlin, Heather M
- McWalter, Kirsty
- Melchinger, Esther U
- Mercimek-Andrews, Saadet
- Nava, Caroline
- Pendziwiat, Manuela
- Person, Richard
- Ramelli, Gian Paolo
- Ramos, Luiza L P
- Rauch, Anita
- Reavey, Caitlin
- Renieri, Alessandra
- Rieß, Angelika
- Sanchez-Valle, Amarilis
- Sattar, Shifteh
- Saunders, Carol
- Schwarz, Niklas
- Smol, Thomas
- Srour, Myriam
- Steindl, Katharina
- Syrbe, Steffen
- Taylor, Jenny C
- Telegrafi, Aida
- Thiffault, Isabelle
- Trauner, Doris A
- van der Linden, Helio
- van Koningsbruggen, Silvana
- Villard, Laurent
- Vogel, Ida
- Vogt, Julie
- Weber, Yvonne G
- Wentzensen, Ingrid M
- Widjaja, Elysa
- Zak, Jaroslav
- Baxter, Samantha
- Banka, Siddharth
- Rodan, Lance H
Producer: 20200311
In:
American journal of human genetics vol. 104
Availability: No items available.
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34.
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. [electronic resource] by
- Jacquemont, Sébastien
- Reymond, Alexandre
- Zufferey, Flore
- Harewood, Louise
- Walters, Robin G
- Kutalik, Zoltán
- Martinet, Danielle
- Shen, Yiping
- Valsesia, Armand
- Beckmann, Noam D
- Thorleifsson, Gudmar
- Belfiore, Marco
- Bouquillon, Sonia
- Campion, Dominique
- de Leeuw, Nicole
- de Vries, Bert B A
- Esko, Tõnu
- Fernandez, Bridget A
- Fernández-Aranda, Fernando
- Fernández-Real, José Manuel
- Gratacòs, Mònica
- Guilmatre, Audrey
- Hoyer, Juliane
- Jarvelin, Marjo-Riitta
- Kooy, R Frank
- Kurg, Ants
- Le Caignec, Cédric
- Männik, Katrin
- Platt, Orah S
- Sanlaville, Damien
- Van Haelst, Mieke M
- Villatoro Gomez, Sergi
- Walha, Faida
- Wu, Bai-Lin
- Yu, Yongguo
- Aboura, Azzedine
- Addor, Marie-Claude
- Alembik, Yves
- Antonarakis, Stylianos E
- Arveiler, Benoît
- Barth, Magalie
- Bednarek, Nathalie
- Béna, Frédérique
- Bergmann, Sven
- Beri, Mylène
- Bernardini, Laura
- Blaumeiser, Bettina
- Bonneau, Dominique
- Bottani, Armand
- Boute, Odile
- Brunner, Han G
- Cailley, Dorothée
- Callier, Patrick
- Chiesa, Jean
- Chrast, Jacqueline
- Coin, Lachlan
- Coutton, Charles
- Cuisset, Jean-Marie
- Cuvellier, Jean-Christophe
- David, Albert
- de Freminville, Bénédicte
- Delobel, Bruno
- Delrue, Marie-Ange
- Demeer, Bénédicte
- Descamps, Dominique
- Didelot, Gérard
- Dieterich, Klaus
- Disciglio, Vittoria
- Doco-Fenzy, Martine
- Drunat, Séverine
- Duban-Bedu, Bénédicte
- Dubourg, Christèle
- El-Sayed Moustafa, Julia S
- Elliott, Paul
- Faas, Brigitte H W
- Faivre, Laurence
- Faudet, Anne
- Fellmann, Florence
- Ferrarini, Alessandra
- Fisher, Richard
- Flori, Elisabeth
- Forer, Lukas
- Gaillard, Dominique
- Gerard, Marion
- Gieger, Christian
- Gimelli, Stefania
- Gimelli, Giorgio
- Grabe, Hans J
- Guichet, Agnès
- Guillin, Olivier
- Hartikainen, Anna-Liisa
- Heron, Délphine
- Hippolyte, Loyse
- Holder, Muriel
- Homuth, Georg
- Isidor, Bertrand
- Jaillard, Sylvie
- Jaros, Zdenek
- Jiménez-Murcia, Susana
- Helas, Géraldine Joly
- Jonveaux, Philippe
- Kaksonen, Satu
- Keren, Boris
- Kloss-Brandstätter, Anita
- Knoers, Nine V A M
- Koolen, David A
- Kroisel, Peter M
- Kronenberg, Florian
- Labalme, Audrey
- Landais, Emilie
- Lapi, Elisabetta
- Layet, Valérie
- Legallic, Solenn
- Leheup, Bruno
- Leube, Barbara
- Lewis, Suzanne
- Lucas, Josette
- MacDermot, Kay D
- Magnusson, Pall
- Marshall, Christian
- Mathieu-Dramard, Michèle
- McCarthy, Mark I
- Meitinger, Thomas
- Mencarelli, Maria Antonietta
- Merla, Giuseppe
- Moerman, Alexandre
- Mooser, Vincent
- Morice-Picard, Fanny
- Mucciolo, Mafalda
- Nauck, Matthias
- Ndiaye, Ndeye Coumba
- Nordgren, Ann
- Pasquier, Laurent
- Petit, Florence
- Pfundt, Rolph
- Plessis, Ghislaine
- Rajcan-Separovic, Evica
- Ramelli, Gian Paolo
- Rauch, Anita
- Ravazzolo, Roberto
- Reis, Andre
- Renieri, Alessandra
- Richart, Cristobal
- Ried, Janina S
- Rieubland, Claudine
- Roberts, Wendy
- Roetzer, Katharina M
- Rooryck, Caroline
- Rossi, Massimiliano
- Saemundsen, Evald
- Satre, Véronique
- Schurmann, Claudia
- Sigurdsson, Engilbert
- Stavropoulos, Dimitri J
- Stefansson, Hreinn
- Tengström, Carola
- Thorsteinsdóttir, Unnur
- Tinahones, Francisco J
- Touraine, Renaud
- Vallée, Louis
- van Binsbergen, Ellen
- Van der Aa, Nathalie
- Vincent-Delorme, Catherine
- Visvikis-Siest, Sophie
- Vollenweider, Peter
- Völzke, Henry
- Vulto-van Silfhout, Anneke T
- Waeber, Gérard
- Wallgren-Pettersson, Carina
- Witwicki, Robert M
- Zwolinksi, Simon
- Andrieux, Joris
- Estivill, Xavier
- Gusella, James F
- Gustafsson, Omar
- Metspalu, Andres
- Scherer, Stephen W
- Stefansson, Kari
- Blakemore, Alexandra I F
- Beckmann, Jacques S
- Froguel, Philippe
Producer: 20120125
In:
Nature vol. 478
Availability: No items available.
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