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L G Shaffer

Showing results (31-40 of 133) with videos related to

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American Journal of Medical Genetics|February 6, 1999
Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heartC A Bacino, B Lee, A S Spikes, et al.
American Journal of Medical Genetics|September 1, 1993
Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndromeL G Shaffer, J Overhauser, L G Jackson, et al.
Clinical Genetics|March 21, 2002
Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4C R Hall, Y Wu, L G Shaffer, et al.
American Journal of Medical Genetics|March 1, 1993
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardationL G Shaffer, J T Hecht, D H Ledbetter, et al.
American Journal of Medical Genetics|April 14, 1997
Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspringS K Shapira, A Orr-Urtreger, S Gagos, et al.
Genomics|April 1, 1993
A chromosome 13-specific human satellite I DNA subfamily with minor presence on chromosome 21: further studies on Robertsonian translocationsP Kalitsis, E Earle, B Vissel, et al.
American Journal of Medical Genetics|July 16, 1999
Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 lociO M Mutchinick, L G Shaffer, C D Kashork, et al.
American Journal of Medical Genetics|June 8, 2000
Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probesC A Bacino, C D Kashork, N A Davino, et al.
Human Molecular Genetics|February 1, 1995
Further evidence that CENP-C is a necessary component of active centromeres: studies of a dic(X; 15) with simultaneous immunofluorescence and FISHS L Page, W C Earnshaw, K H Choo, et al.
Clinical Genetics|October 12, 1999
Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosisH A Heilstedt, S K Shapira, A R Gregg, et al.
Pageof 14

Showing results (31-40 of 133) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics|February 6, 1999
Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heartC A Bacino, B Lee, A S Spikes, et al.
American Journal of Medical Genetics|September 1, 1993
Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndromeL G Shaffer, J Overhauser, L G Jackson, et al.
Clinical Genetics|March 21, 2002
Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4C R Hall, Y Wu, L G Shaffer, et al.
American Journal of Medical Genetics|March 1, 1993
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardationL G Shaffer, J T Hecht, D H Ledbetter, et al.
American Journal of Medical Genetics|April 14, 1997
Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspringS K Shapira, A Orr-Urtreger, S Gagos, et al.
Genomics|April 1, 1993
A chromosome 13-specific human satellite I DNA subfamily with minor presence on chromosome 21: further studies on Robertsonian translocationsP Kalitsis, E Earle, B Vissel, et al.
American Journal of Medical Genetics|July 16, 1999
Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 lociO M Mutchinick, L G Shaffer, C D Kashork, et al.
American Journal of Medical Genetics|June 8, 2000
Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probesC A Bacino, C D Kashork, N A Davino, et al.
Human Molecular Genetics|February 1, 1995
Further evidence that CENP-C is a necessary component of active centromeres: studies of a dic(X; 15) with simultaneous immunofluorescence and FISHS L Page, W C Earnshaw, K H Choo, et al.
Clinical Genetics|October 12, 1999
Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosisH A Heilstedt, S K Shapira, A R Gregg, et al.
Pageof 14