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Germline mosaicism in Rubinstein–Taybi syndrome
by
Tajir, Mariam
,
Fergelot, Patricia
,
Lancelot, Guenaelle
,
Elalaoui, Siham Chafai
,
Arveiler, Benoit
,
Lacombe, Didier
,
Sefiani, Abdelaziz
Published in
Gene
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Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
by
Hilgert, Nele
,
Huentelman, Matthew J
,
Thorburn, Ashley Q
,
Fransen, Erik
,
Dieltjens, Nele
,
Mueller-Malesinska, Malgorzata
,
Pollak, Agnieszka
,
Skorka, Agata
,
Waligora, Jaroslaw
,
Ploski, Rafal
,
Castorina, Pierangela
,
Primignani, Paola
,
Ambrosetti, Umberto
,
Murgia, Alessandra
,
Orzan, Eva
,
Pandya, Arti
,
Arnos, Kathleen
,
Norris, Virginia
,
Seeman, Pavel
,
Janousek, Petr
,
Feldmann, Delphine
,
Marlin, Sandrine
,
Denoyelle, Françoise
,
Nishimura, Carla J
,
Janecke, Andreas
,
Nekahm-Heis, Doris
,
Martini, Alessandro
,
Mennucci, Elena
,
Tóth, Timea
,
Sziklai, Istvan
,
del Castillo, Ignacio
,
Moreno, Felipe
,
Petersen, Michael B
,
Iliadou, Vasiliki
,
Tekin, Mustafa
,
Incesulu, Armagan
,
Nowakowska, Ewa
,
Bal, Jerzy
,
Van de Heyning, Paul
,
Roux, Anne-Françoise
,
Blanchet, Catherine
,
Goizet, Cyril
,
Lancelot, Guenaëlle
,
Fialho, Graça
,
Caria, Helena
,
Liu, Xue Zhong
,
Xiaomei, Ouyang
,
Govaerts, Paul
,
Grønskov, Karen
,
Hostmark, Karianne
,
Frei, Klemens
,
Dhooge, Ingeborg
,
Vlaeminck, Stephen
,
Kunstmann, Erdmute
,
Van Laer, Lut
,
Smith, Richard JH
,
Van Camp, Guy
Published in
European journal of human genetics : EJHG
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