Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia von Leipoldt, M, Erdel, M, Bien-Willner, GA, Smyk, M, Theurl, M, Yatsenko, SA, Lupski, JR, Lane, AH, Shanske, AL, Stankiewicz, P, Scherer, G

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Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk von SHANSKE, Alan L

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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome von MCDERMOTT, Deborah A, BRESSAN, Michael C, PIERPONT, Mary Ella, RAAS-ROTHSCHILD, Annick, SHANSKE, Alan L, SMITH, Wendy E, SPENCER, Robert H, JOHN-SUTTON, Martin G. St, VAN MALDERGEM, Lionel, WAGGONER, Darrel J, WEBER, Matthew, BASSON, Craig T, JIE HE, LEE, Joseph S, AFTIMOS, Salim, BRUECKNER, Martina, GILBERT, Fred, GRAHAM, Gail E, HANNIBAL, Mark C, INNIS, Jeffrey W

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Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA von Shanske, A.L., Leonard, J., Nahum, O., Coppock, D.L., Levy, B.

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Trisomy 18 in a second 20-year-old woman von Shanske, Alan L.

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Split hand foot malformation (SHFM): An introduction von Shanske, Alan L.

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Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome von Rorick, Nicholas K., Kinoshita, Akira, Weirather, Jason L., Peyrard-Janvid, Myriam, de Lima, Renata L. L. Ferreira, Dunnwald, Martine, Shanske, Alan L., Moretti-Ferreira, Danilo, Koillinen, Hannele, Kere, Juha, Mansilla, Maria A., Murray, Jeffrey C., Goudy, Steve L., Schutte, Brian C.

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Autoimmune Neonatal Chondrodysplasia Punctata and Maternal Lupus von Herzog, R, Bernstein, L.J, Shanske, A.L

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Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene : Evidence of heteroplasmy von EL-SCHAHAWI, M, DE MUNAIN, A. L, SARRAZIN, A. M, SHANSKE, A. L, BASIRICO, M, SHANSKE, S, DIMAURO, S

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Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translo... von Shanske, A.L., Edelmann, L., Kardon, N.B., Gosset, P., Levy, B.

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Unique Deletion in Exon 5 of SHOX Gene in a Patient with Idiopathic Short Stature von Shanske, Alan L., Puri, Mala, Marshall, Barbara, Saenger, Paul

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Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS von Shanske, Alan L., Pande, Sumati, Aref, Karim, Vega-Rich, Carlos, Brion, Luc, Reznik, Sandra, Timor-Tritsch, Ilan E.

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Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs von Shanske, A.L., Hoper, S.A., Krahn, K., Schutte, B.C.

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First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature von Dolan, Siobhan M., Shanske, Alan L., Marion, Robert W., Gross, Susan J.

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Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins von Shanske, Alan L, Dowling, Patricia, Schmidt, Rina, White, Beverly J, Russell, Barbara, Bogdanow, Anna, Marion, Robert W

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Prenatal Diagnosis of Marshall Syndrome by Targeted Sonography von Iacoboni, Daniela, Karpel, Barry M., Shanske, Alan L., Marion, Robert W., Gross, Susan J.

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Original Article: Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia von Leipoldt, M, Erdel, M, Bien-Willner, G A, Smyk, M, Theurl, M, Yatsenko, SA, Lupski, J R, Lane, AH, Shanske, AL, Stankiewicz, P, Scherer, G

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A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII) von HUIE, M. L, SHANSKE, A. L, KASPER, J. S, MARION, R. W, HIRSCHHORN, R

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Philadelphia-negative chronic myelogenous leukemia in a patient with a unique complex translocation: 46,XY,t(9;12;15)(q34;q12;q21) von Shanske, Alan L, Grunwald, Hans, Cook, Perry, Heisterkamp, Nora, Groffen, John

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MELAS point mutation with unusual clinical presentation von Shanske, Alan L., Shanske, Sara, Silvestri, Gabriella, Tanji, Kurenai, Wertheim, David, Lipper, Stanley

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