Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature
Rossi, Michael R., DiMaio, Miriam S., Xiang, Bixia, Lu, Kangmo, Kaymakcalan, Hande, Seashore, Margretta, Mahoney, Maurice J., Li, Peining
Published in American journal of medical genetics. Part A (01.12.2009)
Published in American journal of medical genetics. Part A (01.12.2009)
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Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization
Li, Peining, Pomianowski, Pawel, DiMaio, Miriam S., Florio, Joanne R., Rossi, Michael R., Xiang, Bixia, Xu, Fang, Yang, Hui, Geng, Qian, Xie, Jiansheng, Mahoney, Maurice J.
Published in American journal of medical genetics. Part A (01.07.2011)
Published in American journal of medical genetics. Part A (01.07.2011)
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Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease
Fattal-Valevski, Aviva, DiMaio, Miriam S, Hisama, Fuki M, Hobson, Grace M, Davis-Williams, Angelique, Garbern, James Y, Mahoney, Maurice J, Kolodny, Edwin H, Pastores, Gregory M
Published in Journal of child neurology (01.05.2009)
Published in Journal of child neurology (01.05.2009)
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Genomic Characterization of Prenatal Detected Chromosomal Structural Abnormalities Using Oligonucleotide Array Comparative Genomic Hybridization
PEINING LI, POMIANOWSKI, Pawel, MAHONEY, Maurice J, DIMAIO, Miriam S, FLORIO, Joanne R, ROSSI, Michael R, BIXIA XIANG, FANG XU, HUI YANG, QIAN GENG, JIANSHENG XIE
Published in American journal of medical genetics. Part A (2011)
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Published in American journal of medical genetics. Part A (2011)
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Screening for Down's Syndrome
Cowchock, Susan, Jackson, Laird, Taylor, Kenneth J.W, Taylor, Caroline R, Hershey, Douglas W, Palomaki, Glenn E, Knight, George J, Haddow, James E, Hook, Ernest B, DiMaio, Miriam S, Baumgarten, Alexander, Mahoney, Maurice J, Greenstein, Robert M, Saal, Howard M
Published in The New England journal of medicine (07.04.1988)
Published in The New England journal of medicine (07.04.1988)
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Familial GPC3 and GPC4-TFDP3 deletions at Xq26 associated with Simpson-Golabi-Behmel syndrome
DiMaio, Miriam S., Yang, Hui, Mahoney, Maurice J., McGrath, James, Li, Peining
Published in Meta Gene (01.02.2017)
Published in Meta Gene (01.02.2017)
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Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling
Fryburg, J S, Dimaio, M S, Yang-Feng, T L, Mahoney, M J
Published in Prenatal diagnosis (01.06.1993)
Published in Prenatal diagnosis (01.06.1993)
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Cytogenetic results of chorionic villus sampling: high success rate and diagnostic accuracy in the United States collaborative study
Ledbetter, D H, Martin, A O, Verlinsky, Y, Pergament, E, Jackson, L, Yang-Feng, T, Schonberg, S A, Gilbert, F, Zachary, J M, Barr, M
Published in American journal of obstetrics and gynecology (01.02.1990)
Published in American journal of obstetrics and gynecology (01.02.1990)
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