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L G Shaffer

Showing results (121-130 of 133) with videos related to

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American Journal of Human Genetics|April 1, 1996
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11O Bartsch, W Wuyts, W Van Hul, et al.
Genomics|August 17, 2000
Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene eraR A Britton, S M Chen, D Wallis, et al.
American Journal of Medical Genetics|December 18, 1998
Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated familiesB K Goodman, L G Shaffer, J Rutberg, et al.
Epilepsia|October 3, 2001
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndromeH A Heilstedt, D L Burgess, A E Anderson, et al.
Nature Genetics|December 30, 1999
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionL Potocki, K S Chen, S S Park, et al.
Human Genetics|January 24, 1998
Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalitiesE Schröck, T Veldman, H Padilla-Nash, et al.
Molecular Syndromology|November 1, 2012
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 MicrodeletionsR N Traylor, W B Dobyns, J A Rosenfeld, et al.
Molecular Syndromology|April 20, 2013
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and MicrocephalyJ A Rosenfeld, K H Kim, B Angle, et al.
Prenatal Diagnosis|March 1, 1997
Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlationsL Y Hsu, M T Yu, R L Neu, et al.
American Journal of Human Genetics|October 24, 2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick, H Woffendin, T Jakins, et al.
Pageof 14

Showing results (121-130 of 133) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|April 1, 1996
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11O Bartsch, W Wuyts, W Van Hul, et al.
Genomics|August 17, 2000
Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene eraR A Britton, S M Chen, D Wallis, et al.
American Journal of Medical Genetics|December 18, 1998
Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated familiesB K Goodman, L G Shaffer, J Rutberg, et al.
Epilepsia|October 3, 2001
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndromeH A Heilstedt, D L Burgess, A E Anderson, et al.
Nature Genetics|December 30, 1999
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionL Potocki, K S Chen, S S Park, et al.
Human Genetics|January 24, 1998
Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalitiesE Schröck, T Veldman, H Padilla-Nash, et al.
Molecular Syndromology|November 1, 2012
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 MicrodeletionsR N Traylor, W B Dobyns, J A Rosenfeld, et al.
Molecular Syndromology|April 20, 2013
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and MicrocephalyJ A Rosenfeld, K H Kim, B Angle, et al.
Prenatal Diagnosis|March 1, 1997
Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlationsL Y Hsu, M T Yu, R L Neu, et al.
American Journal of Human Genetics|October 24, 2001
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick, H Woffendin, T Jakins, et al.
Pageof 14