Journal des troubles génétiques et rapports génétiques

article de recherche

CGH Array Based Case Report of a Patient Suffering with Amelogenesis Imperfecta, Jalili Syndrome, Situs Inversus and Oligozoospermia

• Neetu Singh, Dinesh Kumar Sahu, Parth Purwar, Sanjeev Gupta, Anil Kumar Tripathi, Jaya Dixit, Ravi Kant and Devendra Kumar Gupta

article de recherche

Impact of Consanguinity on Health in a Highly Endogamous Population in District Buner, Khyber Pakhtunkhwa, Pakistan

• Jehangir Khan, Arshad Ali, Bakht Tarin Khan , Zaheer Ahmad and Waqas Ahmad Shams

article de recherche

Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations

• Ottaviani Daniela, Parma Diana, Ferrer Marcela, Giliberto Florencia, Luce Leonela, Alonso Cristina and Szijan Irene

Rapport de cas

Single Amino Acid Deletion in MYH11 Segregating in a Family with TAAD

• Pawel T Pomianowski, Daniel Dykas, Murim Choi, Jingshing Wu, Gregory A Kuzmik, Dawn Ardito, Sandip Mukherjee and John A Elefteriades

article de recherche

Fetuin A Concentration in the Amniotic Fluid of Fetuses with Down Syndrome

• Salih Burcin Kavak, Ebru Celik Kavak,Askin Sen, Rasit Ilhan, Murat Kaya, Ekrem Sapmaz, ozgur Arat, Sel?uk Kaplan and Melike Baspinar