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L G Shaffer

Showing results (21-30 of 133) with videos related to

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American Journal of Human Genetics|July 1, 1997
Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardationA H Ligon, A L Beaudet, L G Shaffer
Prenatal Diagnosis|June 9, 1999
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridizationC D Kashork, J R Lupski, L G Shaffer
American Journal of Medical Genetics|October 21, 1998
Systematic search for uniparental disomy in early fetal losses: the results and a review of the literatureL G Shaffer, C McCaskill, K Adkins, et al.
American Journal of Human Genetics|April 25, 2000
Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomesS A Berend, J Horwitz, C McCaskill, et al.
The Journal of Reproductive Medicine|May 1, 1996
Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case reportL G Shaffer, A S Spikes, M Macha, et al.
American Journal of Medical Genetics|May 22, 1995
Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomaliesA S Spikes, K Hegmann, J L Smith, et al.
Clinical Genetics|December 1, 1996
Silver-Russell syndrome and exclusion of uniparental disomyM L Ayala-Madrigal, L G Shaffer, M L Ramírez-Dueñas
Cytogenetic and Genome Research|September 7, 2006
Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridizationC D Kashork, A Theisen, B A Bejjani, et al.
American Journal of Obstetrics and Gynecology|January 1, 1994
Very low maternal serum chorionic gonadotropin levels in association with fetal triploidyD Schmidt, L G Shaffer, C McCaskill, et al.
Clinical Genetics|December 8, 1998
Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosomeP H King, R Waldrop, J R Lupski, et al.
Pageof 14

Showing results (21-30 of 133) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|July 1, 1997
Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardationA H Ligon, A L Beaudet, L G Shaffer
Prenatal Diagnosis|June 9, 1999
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridizationC D Kashork, J R Lupski, L G Shaffer
American Journal of Medical Genetics|October 21, 1998
Systematic search for uniparental disomy in early fetal losses: the results and a review of the literatureL G Shaffer, C McCaskill, K Adkins, et al.
American Journal of Human Genetics|April 25, 2000
Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomesS A Berend, J Horwitz, C McCaskill, et al.
The Journal of Reproductive Medicine|May 1, 1996
Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case reportL G Shaffer, A S Spikes, M Macha, et al.
American Journal of Medical Genetics|May 22, 1995
Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomaliesA S Spikes, K Hegmann, J L Smith, et al.
Clinical Genetics|December 1, 1996
Silver-Russell syndrome and exclusion of uniparental disomyM L Ayala-Madrigal, L G Shaffer, M L Ramírez-Dueñas
Cytogenetic and Genome Research|September 7, 2006
Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridizationC D Kashork, A Theisen, B A Bejjani, et al.
American Journal of Obstetrics and Gynecology|January 1, 1994
Very low maternal serum chorionic gonadotropin levels in association with fetal triploidyD Schmidt, L G Shaffer, C McCaskill, et al.
Clinical Genetics|December 8, 1998
Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosomeP H King, R Waldrop, J R Lupski, et al.
Pageof 14