未登录Biallelic truncating variants in VGLL2 cause syngnathia in humans
Agostini, Valeria; Tessier, Aude; Djaziri, Nabila; Khonsari, Roman Hossein; Galliani, Eva; Kurihara, Yukiko; Honda, Masahiko; Kurihara, Hiroki; Hidaka, Kyoko; Tuncbilek, Gokhan; Picard, Arnaud; Konas, Ersoy; Amiel, Jeanne; Gordon, Christopher T. .png)
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收藏分享 收藏 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentGordon, Christopher T.; Xue, Shifeng; Yigit, Goekhan; Filali, Hicham; Chen, Kelan; Rosins, Nadine; Yoshiura, Koh-ichiro; Oufadem, Myriam; Beck, Tamara J.; McGowan, Ruth; Magee, Alex C.; Altmueller, Janine; Dion, Camille; Thiele, Holger; Gurzau, Alexandra D.; Nuernberg, Peter; Meschede, Dieter; Muehlbauer, Wolfgang; Okamoto, Nobuhiko; Varghese, Vinod; Irving, Rachel; Sigaudy, Sabine; Williams, Denise; Ahmed, S. Faisal; Bonnard, Carine; Kong, Mung Kei; Ratbi, Ilham; Fejjal, Nawfal; Fikri, Meriem; Elalaoui, Siham Chafai; Reigstad, Hallvard; Bole-Feysot, Christine; Nitschke, Patrick; Ragge, Nicola; Levy, Nicolas; Tuncbilek, Goekhan; Teo, Audrey S. M.; Cunningham, Michael L.; Sefiani, Abdelaziz; Kayserili, Huelya; Murphy, James M.; Chatdokmaiprai, Chalermpong; Hillmer, Axel M.; Wattanasirichaigoon, Duangrurdee; Lyonnet, Stanislas; Magdinier, Frederique; Javed, Asif; Blewitt, Marnie E.; Amiel, Jeanne; Wollnik, Bernd; Reversade, Bruno 分享 收藏 Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal DysplasiaUz, Elif; Alanay, Yasemin; Aktas, Dilek; Vargel, Ibrahim; Gucer, Safak; Tuncbilek, Gokhan; von Eggeling, Ferdinand; Yilmaz, Engin; Deren, Ozgur; Posorski, Nicole; Ozdag, Hilal; Liehr, Thomas; Balci, Sevim; Alikasifoglu, Mehmet; Wollnik, Bernd; Akarsu, Nurten A. 分享 收藏 ALX4 dysfunction disrupts craniofacial and epidermal developmentKayserili, Hulya; Uz, Elif; Niessen, Carien; Vargel, Ibrahim; Alanay, Yasemin; Tuncbilek, Gokhan; Yigit, Gokhan; Uyguner, Oya; Candan, Sukru; Okur, Hamza; Kaygin, Serkan; Balci, Sevim; Mavili, Emin; Alikasifoglu, Mehmet; Haase, Ingo; Wollnik, Bernd; Akarsu, Nurten Ayse 分享 收藏 Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35Marazita, ML; Murray, JC; Lidral, AC; Arcos-Burgos, M; Cooper, ME; Goldstein, T; Maher, BS; Daack-Hirsch, S; Schultz, R; Mansilla, MA; Field, LL; Liu, Y; Prescott, N; Malcolm, S; Winter, R; Ray, A; Moreno, L; Valencia, C; Neiswanger, K; Wyszynski, DF; Bailey-Wilson, JE; Albacha-Hejazi, H; Beaty, TH; McIntosh, I; Hetmanski, JB; Tunçbilek, G; Edwards, M; Harkin, L; Scott, R; Roddick, LG 分享 收藏 分享 收藏 分享 收藏 
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