Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation

por Menendez, Ibis, Carranza, Claudia, Herrera, Mariana, Marroquin, Nely, Foster, Joseph, Cengiz, Filiz Basak, Bademci, Guney, Tekin, Mustafa
Publicado 2017

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

por Su, Meng, Benke, Paul J., Bademci, Guney, Cengiz, Filiz Basak, Ouyang, Xiaomei, Peng, Jinghong, Casas, Carmen E., Tekin, Mustafa, Fan, Yao-Shan
Publicado 2018

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

por McSherry, Megan, Masih, Katherine E., Elcioglu, Nursel H., Celik, Pelin, Balci, Ozge, Cengiz, Filiz Basak, Nunez, Daniella, Sineni, Claire J., Seyhan, Serhat, Kocaoglu, Defne, Guo, Shengru, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
Publicado 2018

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

por Diaz-Horta, Oscar, Duman, Duygu, Foster, Joseph, Sırmacı, Aslı, Gonzalez, Michael, Mahdieh, Nejat, Fotouhi, Nikou, Bonyadi, Mortaza, Cengiz, Filiz Başak, Menendez, Ibis, Ulloa, Rick H., Edwards, Yvonne J. K., Züchner, Stephan, Blanton, Susan, Tekin, Mustafa
Publicado 2012

Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

por Diaz-Horta, Oscar, Duman, Duygu, Foster, Joseph, Sırmacı, Aslı, Gonzalez, Michael, Mahdieh, Nejat, Fotouhi, Nikou, Bonyadi, Mortaza, Cengiz, Filiz Başak, Menendez, Ibis, Ulloa, Rick H., Edwards, Yvonne J. K., Züchner, Stephan, Blanton, Susan, Tekin, Mustafa
Publicado 2013