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Weimin Bi

Showing results (21-30 of 138) with videos related to

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Human Molecular Genetics|October 2, 2004
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndromeJiong Yan, Victoria W Keener, Weimin Bi, et al.
American Journal of Human Genetics|November 26, 2003
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2Weimin Bi, Sung-Sup Park, Christine J Shaw, et al.
American Journal of Medical Genetics. Part A|May 13, 2016
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)Weimin Bi, Ian A Glass, Donna M Muzny, et al.
Genome Research|May 9, 2002
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPsSung-Sup Park, Paweł Stankiewicz, Weimin Bi, et al.
American Journal of Medical Genetics. Part A|September 6, 2022
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysisRunjun D Kumar, Linyan Meng, Pengfei Liu, et al.
Human Genetics|November 27, 2004
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndromeWeimin Bi, G Mustafa Saifi, Christine J Shaw, et al.
American Journal of Medical Genetics. Part A|August 21, 2012
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndromeLindsay C Burrage, Richard E Person, Angela Flores, et al.
The Journal of Clinical Investigation|August 7, 2012
Aneuploidy as a mechanism for stress-induced liver adaptationAndrew W Duncan, Amy E Hanlon Newell, Weimin Bi, et al.
Pediatric Blood & Cancer|September 11, 2018
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemiaSaman K Hashmi, Katie Bergstrom, Alison A Bertuch, et al.
Clinical Case Reports|February 27, 2023
Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the <i>PKHD1</i> gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramniosTakuya Sakyu, Samantha R Stover, Yue Wang, et al.
Pageof 14

Showing results (21-30 of 138) with videos related to

Sort By:
Pageof 14
Human Molecular Genetics|October 2, 2004
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndromeJiong Yan, Victoria W Keener, Weimin Bi, et al.
American Journal of Human Genetics|November 26, 2003
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2Weimin Bi, Sung-Sup Park, Christine J Shaw, et al.
American Journal of Medical Genetics. Part A|May 13, 2016
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)Weimin Bi, Ian A Glass, Donna M Muzny, et al.
Genome Research|May 9, 2002
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPsSung-Sup Park, Paweł Stankiewicz, Weimin Bi, et al.
American Journal of Medical Genetics. Part A|September 6, 2022
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysisRunjun D Kumar, Linyan Meng, Pengfei Liu, et al.
Human Genetics|November 27, 2004
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndromeWeimin Bi, G Mustafa Saifi, Christine J Shaw, et al.
American Journal of Medical Genetics. Part A|August 21, 2012
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndromeLindsay C Burrage, Richard E Person, Angela Flores, et al.
The Journal of Clinical Investigation|August 7, 2012
Aneuploidy as a mechanism for stress-induced liver adaptationAndrew W Duncan, Amy E Hanlon Newell, Weimin Bi, et al.
Pediatric Blood & Cancer|September 11, 2018
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemiaSaman K Hashmi, Katie Bergstrom, Alison A Bertuch, et al.
Clinical Case Reports|February 27, 2023
Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the <i>PKHD1</i> gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramniosTakuya Sakyu, Samantha R Stover, Yue Wang, et al.
Pageof 14