未登录Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia
Uz, 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. .png)
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收藏A Specific Mutation in the Distant Sonic Hedgehog (SHH) Cis-Regulator (ZRS) Causes Werner Mesomelic Syndrome (WMS) While Complete ZRS Duplications Underlie Haas Type Polysyndactyly and Preaxial Polydactyly (PPD) With or Without Triphalangeal ThumbWieczorek, Dagmar; Pawlik, Barbara; Li, Yun; Akarsu, Nurten A.; Caliebe, Almuth; May, Klaus J. W.; Schweiger, Bernd; Vargas, Fernando R.; Balci, Sevim; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd 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 Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19)(q11.1-11.2;p13-3)Balci, Sevim; Unal, Aysun; Engiz, Ozlem; Aktas, Dilek; Liehr, Thomas; Gross, Madelaine; Mrasek, Kristin; Saygi, Serap 分享 收藏 Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber SyndromeFrank, Valeska; Bruechle, Nadina Ortiz; Mager, Silke; Frints, Susanna G. M.; Bohring, Axel; Du Bois, Gabriele; Debatin, Irmgard; Seidel, Heide; Senderek, Jan; Besbas, Nesrin; Todt, Unda; Kubisch, Christian; Grimm, Tiemo; Teksen, Fulya; Balci, Sevim; Zerres, Klaus; Bergman, Carsten 分享 收藏 Long-term survival in severe combined immune deficiency: The role of persistent maternal engraftmentTezcan, I; Ersoy, F; Sanal, O; Turul, T; Uckan, D; Balci, S; Hicsonmez, G; Prieur, M; Caillat-Zucmann, S; Le Deist, F; de Saint Basile, G 分享 收藏 分享 收藏 Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosisHanks, S; Adams, S; Douglas, J; Arbour, L; Atherton, DJ; Balci, S; Bode, H; Campbell, ME; Feingold, M; Keser, G; Kleijer, W; Mancini, G; McGrath, JA; Muntoni, F; Nanda, A; Teare, MD; Warman, M; Pope, FM; Superti-Furga, A; Futreal, PA; Rahman, N 分享 收藏 分享 收藏 FISH studies in 45 patients with Rubinstein-Taybi syndrome:: deletions associated with polysplenia, hypoplastic left heart and death in infancyBartsch, O; Wagner, A; Hinkel, GK; Krebs, P; Stumm, M; Schmalenberger, B; Böhm, S; Balci, S; Majewski, F 分享 收藏 
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