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A S Kulharya

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American Journal of Medical Genetics|November 1, 1993
Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversionA S Kulharya, N R Schneider, G N Wilson
American Journal of Medical Genetics|January 25, 2002
Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughterM Drummond-Borg, A S Kulharya, V Tonk, et al.
American Journal of Medical Genetics|June 19, 1998
Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systemsA S Kulharya, R C Michaelis, K S Norris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2001
Packed red cell transfusion does not compromise chromosome analysis in newbornsA S Kulharya, B A Salbert, K N Norris, et al.
American Journal of Medical Genetics|March 13, 1995
Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23A S Kulharya, H Roop, M K Kukolich, et al.
Clinical Genetics|December 8, 1998
Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited markerA S Kulharya, J Garcia-Heras, H B Radtke, et al.
Clinical Genetics|February 1, 1997
Prenatal diagnosis of a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6qA S Kulharya, M E Carlin, R W Stettler, et al.
American Journal of Medical Genetics|November 7, 1998
Kenny-Caffey syndrome and microorchidismW H Hoffman, K Kovacs, S Li, et al.
American Journal of Medical Genetics|January 16, 1995
Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomalyA S Kulharya, M Maberry, M K Kukolich, et al.
American Journal of Medical Genetics|December 18, 2001
Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failureM Rauchman, W H Hoffman, J D Hanna, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
American Journal of Medical Genetics|November 1, 1993
Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversionA S Kulharya, N R Schneider, G N Wilson
American Journal of Medical Genetics|January 25, 2002
Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughterM Drummond-Borg, A S Kulharya, V Tonk, et al.
American Journal of Medical Genetics|June 19, 1998
Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systemsA S Kulharya, R C Michaelis, K S Norris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2001
Packed red cell transfusion does not compromise chromosome analysis in newbornsA S Kulharya, B A Salbert, K N Norris, et al.
American Journal of Medical Genetics|March 13, 1995
Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23A S Kulharya, H Roop, M K Kukolich, et al.
Clinical Genetics|December 8, 1998
Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited markerA S Kulharya, J Garcia-Heras, H B Radtke, et al.
Clinical Genetics|February 1, 1997
Prenatal diagnosis of a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6qA S Kulharya, M E Carlin, R W Stettler, et al.
American Journal of Medical Genetics|November 7, 1998
Kenny-Caffey syndrome and microorchidismW H Hoffman, K Kovacs, S Li, et al.
American Journal of Medical Genetics|January 16, 1995
Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomalyA S Kulharya, M Maberry, M K Kukolich, et al.
American Journal of Medical Genetics|December 18, 2001
Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failureM Rauchman, W H Hoffman, J D Hanna, et al.
Pageof 1