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0035112634
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Micro Syndrome in Muslim Pakistan Children
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AINSWORTH, J.R.1
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ALIGIANIS I.A., JOHNSON C.A., GISSEN P., CHEN D., HAMPSHIRE D., HOFFMANN K., MAINA E.N., MORGAN N.V., TEE L., MORTON J., AINSWORTH J.R., HORN D., ROSSER E., COLE T.R., STOLTE-DIJKSTRA I., FIEGGEN K., CLAYTON-SMITH J., MEGARBANE A., SHIELD J.P., NEWBURY-ECOB R., DOBYNS W.B., GRAHAM J.M. JR., KJAER K.W., WARBURG M., BOND J., TREMBATH R.C., HARRIS L.W., TAKAI Y., MUNDLOS S., TANNAHILL D., WOODS C.G., MAHER E.R.: Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat. Genet., 2005, 37, 221-223.
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ALIGIANIS I.A., JOHNSON C.A., GISSEN P., CHEN D., HAMPSHIRE D., HOFFMANN K., MAINA E.N., MORGAN N.V., TEE L., MORTON J., AINSWORTH J.R., HORN D., ROSSER E., COLE T.R., STOLTE-DIJKSTRA I., FIEGGEN K., CLAYTON-SMITH J., MEGARBANE A., SHIELD J.P., NEWBURY-ECOB R., DOBYNS W.B., GRAHAM J.M. JR., KJAER K.W., WARBURG M., BOND J., TREMBATH R.C., HARRIS L.W., TAKAI Y., MUNDLOS S., TANNAHILL D., WOODS C.G., MAHER E.R.: Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat. Genet., 2005, 37, 221-223.
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Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome
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ALIGIANIS I.A., MORGAN N.V., MIONE M., JOHNSON C.A., ROSSER E., HENNEKAM R.C., ADAMS G., TREMBATH R.C., PILZ D.T., STOODLEY N., MOORE A.T., WILSON S., MAHER E.R.: Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am. J. Hum. Genet., 2006, 78, 702-707.
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Autopsy Case of Multiple anomalies with hypoplastic cerebrum, eyes, and endocrine organs, mimicking micro syndrome
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MIRA L.B., GRAHAM J.M. JR., GREENBERG C.R., BUSCH D.W., DOUGHTY A.T.B., ZIFFER D.W., COLEMAN D.M., SAVRE-TRAIN I., FRIEDBERG E.C.: Manitoba aboriginal kindred with original Cerebro-Oculo-Facio-Skeletal syndrome has a mutation in the Cockayne syndrome Group B (CSB) gene. Am. J. Hum. Genet., 2000, 66, 1221-1228.
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