Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
Hu, Jie, Ou, Zhishuo, Infante, Elena, Kochmar, Sally J, Madan-Khetarpal, Suneeta, Hoffner, Lori, Parsazad, Shafagh, Surti, Urvashi
Published in Molecular cytogenetics (19.06.2017)
Published in Molecular cytogenetics (19.06.2017)
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Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype
Liao, Jun, Sathanoori, Malini, Yatsenko, Svetlana A., Hu, Jie, Kochmar, Sally J., Hoffner, Lori, Hogge, W. Allen, Surti, Urvashi
Published in Prenatal diagnosis (01.12.2012)
Published in Prenatal diagnosis (01.12.2012)
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Prenatal Diagnosis of 2q32 Deletion Syndrome Characterized by Multiple Segmental Deletions and Complex Chromosomal Rearrangement Involving Chromosomes 2, 5 and 7
Thorson, Heidi L., Surti, Urvashi, Sathanoori, Malini, Kochmar, Sally J., Torchia, Beth, Rajkovic, Aleksandar
Published in Fetal diagnosis and therapy (01.04.2012)
Published in Fetal diagnosis and therapy (01.04.2012)
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Journal Article
Prenatal Diagnosis of 2p32 Deletion Syndrome Characterized by Multiple Segmental Deletions and Complex Chromosomal Rearrangement Involving Chromosomes 2, 5 and 7
THORSON, Heidi L, SURTI, Urvashi, SATHANOORI, Malini, KOCHMAR, Sally J, TORCHIA, Beth, RAJKOVIC, Aleksandar
Published in Fetal diagnosis and therapy (2012)
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Published in Fetal diagnosis and therapy (2012)
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Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene
Peterson, Jess F, Thakur, Pankaj, Peffer, Abigail, Kolthoff, Marta, Kochmar, Sally J, Surti, Urvashi
Published in The journal of the Association of Genetic Technologists (2014)
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Published in The journal of the Association of Genetic Technologists (2014)
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Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome
McPherson, E W, Laneri, G, Clemens, M M, Kochmar, S J, Surti, U
Published in American journal of medical genetics (05.09.1997)
Published in American journal of medical genetics (05.09.1997)
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