జర్నల్ ఆఫ్ జెనెటిక్ డిజార్డర్స్ & జెనెటిక్ రిపోర్ట్స్

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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

పరిశోధన వ్యాసం

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

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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

కేసు నివేదిక

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

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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