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Lisa G Shaffer

Showing results (151-160 of 215) with videos related to

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Human Molecular Genetics|July 7, 2011
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangementsYue Luo, Karen E Hermetz, Jodi M Jackson, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletionsJill A Rosenfeld, John A Crolla, Susan Tomkins, et al.
Human Molecular Genetics|July 23, 2003
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomesElizabeth Spiteri, Melanie Babcock, Catherine D Kashork, et al.
European Journal of Human Genetics : EJHG|April 27, 2005
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndromeKeiko Wakui, Giuliana Gregato, Blake C Ballif, et al.
American Journal of Medical Genetics. Part A|September 25, 2004
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3AYong-Hui Jiang, Trilochan Sahoo, Ron C Michaelis, et al.
European Journal of Human Genetics : EJHG|October 16, 2004
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closureMarzena Gajecka, Wei Yu, Blake C Ballif, et al.
Forensic Science International. Genetics|August 17, 2013
Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridizationElena A Repnikova, Jill A Rosenfeld, Andrea Bailes, et al.
Molecular Genetics and Metabolism|January 14, 2011
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephalyEmily F Kauvar, Ping Hu, Daniel E Pineda-Alvarez, et al.
Human Genetics|June 23, 2006
Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocationsZhishuo Ou, Małgorzata Jarmuz, Steven P Sparagana, et al.
American Journal of Medical Genetics. Part A|August 8, 2006
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) geneHagit Baris, Bassem A Bejjani, Wen-Hann Tan, et al.
Pageof 22

Showing results (151-160 of 215) with videos related to

Sort By:
Pageof 22
Human Molecular Genetics|July 7, 2011
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangementsYue Luo, Karen E Hermetz, Jodi M Jackson, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletionsJill A Rosenfeld, John A Crolla, Susan Tomkins, et al.
Human Molecular Genetics|July 23, 2003
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomesElizabeth Spiteri, Melanie Babcock, Catherine D Kashork, et al.
European Journal of Human Genetics : EJHG|April 27, 2005
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndromeKeiko Wakui, Giuliana Gregato, Blake C Ballif, et al.
American Journal of Medical Genetics. Part A|September 25, 2004
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3AYong-Hui Jiang, Trilochan Sahoo, Ron C Michaelis, et al.
European Journal of Human Genetics : EJHG|October 16, 2004
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closureMarzena Gajecka, Wei Yu, Blake C Ballif, et al.
Forensic Science International. Genetics|August 17, 2013
Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridizationElena A Repnikova, Jill A Rosenfeld, Andrea Bailes, et al.
Molecular Genetics and Metabolism|January 14, 2011
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephalyEmily F Kauvar, Ping Hu, Daniel E Pineda-Alvarez, et al.
Human Genetics|June 23, 2006
Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocationsZhishuo Ou, Małgorzata Jarmuz, Steven P Sparagana, et al.
American Journal of Medical Genetics. Part A|August 8, 2006
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) geneHagit Baris, Bassem A Bejjani, Wen-Hann Tan, et al.
Pageof 22