BMC Medical Genetics | Home page

BMC Medical Genetics | Home page

BMC Medical Genetics

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1. Content Type:Research Article

     |  2 July 2019

   SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct

   Authors:Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer and Andrew J. Griffith
2. Content Type:Research Article

     |  1 July 2019

   Overexpression of MicroRNA-148b-3p stimulates osteogenesis of human bone marrow-derived mesenchymal stem cells: the role of MicroRNA-148b-3p in osteogenesis

   Authors:Samaneh Mollazadeh, Bibi Sedigheh Fazly Bazzaz, Vajiheh Neshati, Antoine A. F. de Vries, Hojjat Naderi-Meshkin, Majid Mojarad, Mahdi Mirahmadi, Zeinab Neshati and Mohammad Amin Kerachian
3. Content Type:Research Article

     |  28 June 2019

   Effect of prematurity on genome wide methylation in the placenta

   Authors:Jessica Schuster, Alper Uzun, Joan Stablia, Christoph Schorl, Mari Mori and James F. Padbury
4. Content Type:Research Article

     |  27 June 2019

   Rapid, low cost and sensitive detection of Calreticulin mutations by a PCR based amplicon length differentiation assay for diagnosis of myeloproliferative neoplasms

   Authors:Ngo Tat Trung, Dao Thanh Quyen, Nghiem Xuan Hoan, Dao Phuong Giang, Tran Thi Huyen Trang, Thirumalaisamy P. Velavan, Mai Hong Bang and Le Huu Song
5. Content Type:Case Report

     |  26 June 2019

   DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan

   Authors:Lika’a Fasih Y. Al-Kzayer, Hanadi Munaf H. Al-Aradi, Tomonari Shigemura, Kenji Sano, Miyuki Tanaka, Motoharu Hamada, Kenan Hussien Ali, Osamah Mohammed Aldaghir, Yozo Nakazawa and Yusuke Okuno