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A Bacino

Showing results (51-60 of 173) with videos related to

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European Journal of Human Genetics : EJHG|October 21, 2010
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyeliaChristian P Schaaf, Robin P Goin-Kochel, Kerri P Nowell, et al.
European Journal of Human Genetics : EJHG|May 25, 2007
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlationsTrilochan Sahoo, Carlos A Bacino, Jennifer R German, et al.
American Journal of Human Genetics|April 11, 2003
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndromeHeidi A Heilstedt, Blake C Ballif, Leslie A Howard, et al.
Developmental Medicine and Child Neurology|December 3, 2010
Alterations in white matter pathways in Angelman syndromeSarika U Peters, Walter E Kaufmann, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndromeKana Hosoki, Tohru Ohta, Jun Natsume, et al.
American Journal of Medical Genetics. Part A|December 21, 2018
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literatureMaureen Handoko, Lisa T Emrick, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfootW Lu, C A Bacino, B S Richards, et al.
BMC Medical Genetics|February 16, 2005
SNP genotyping to screen for a common deletion in CHARGE syndromeSeema R Lalani, Arsalan M Safiullah, Susan D Fernbach, et al.
Journal of Medical Genetics|September 27, 2005
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlationsT Sahoo, S U Peters, N S Madduri, et al.
Prenatal Diagnosis|April 3, 2012
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literatureAmy Breman, Amber N Pursley, Patricia Hixson, et al.
Pageof 18

Showing results (51-60 of 173) with videos related to

Sort By:
Pageof 18
European Journal of Human Genetics : EJHG|October 21, 2010
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyeliaChristian P Schaaf, Robin P Goin-Kochel, Kerri P Nowell, et al.
European Journal of Human Genetics : EJHG|May 25, 2007
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlationsTrilochan Sahoo, Carlos A Bacino, Jennifer R German, et al.
American Journal of Human Genetics|April 11, 2003
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndromeHeidi A Heilstedt, Blake C Ballif, Leslie A Howard, et al.
Developmental Medicine and Child Neurology|December 3, 2010
Alterations in white matter pathways in Angelman syndromeSarika U Peters, Walter E Kaufmann, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndromeKana Hosoki, Tohru Ohta, Jun Natsume, et al.
American Journal of Medical Genetics. Part A|December 21, 2018
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literatureMaureen Handoko, Lisa T Emrick, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfootW Lu, C A Bacino, B S Richards, et al.
BMC Medical Genetics|February 16, 2005
SNP genotyping to screen for a common deletion in CHARGE syndromeSeema R Lalani, Arsalan M Safiullah, Susan D Fernbach, et al.
Journal of Medical Genetics|September 27, 2005
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlationsT Sahoo, S U Peters, N S Madduri, et al.
Prenatal Diagnosis|April 3, 2012
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literatureAmy Breman, Amber N Pursley, Patricia Hixson, et al.
Pageof 18