Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Bruno Reversade"'
Autor:
A.J. Tian, Ling Ling, Hane Lee, Mohammad Shboul, Stanley F. Nelson, Hanan Hamamy, Barry Merriman, Amira Masri, Brian C. O'Connor, Osama H. Ababneh, Azmy M. Al-Hadidy, Simon M. Cool, Bruno Reversade
Publikováno v:
Differentiation. 80:S49-S50
We delineated a novel syndromic brachydactyly with partial duplication of proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 candidate genes detected a disease-causing frameshift mutation in the gene CHSY1 encodin
Autor:
Osama H. Ababneh, Azmy M. Al-Hadidy, Stanley F. Nelson, Hane Lee, Ling Ling, Bruno Reversade, Simon M. Cool, Mohammad Shboul, Barry Merriman, Hanan Hamamy, Jing Tian, Amira Masri, Brian C. O'Connor
Publikováno v:
Differentiation. 80:S50
A novel brachydactyly with duplication of proximal phalanges was discovered while traveling to the Lost City of Petra. By homozygosity mapping it was delineated to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 candidate genes dete
Autor:
Carine Bonnard, Nurten A. Akarsu, Anna Strobl, Hane Lee, Barry Merriman, Mohammad Shboul, Bruno Reversade, Hülya Kayserili, Hanan Hamamy
Publikováno v:
Differentiation. 80:S52
A novel autosomal recessive syndrome with congenital heart, blood, bone and craniofacial defects was delineated by homozygosity mapping in two inbred families. Independent disease-causing mutations were found in one of the Iroquois (IRX) transcriptio