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Christine M Eng

Showing results (71-80 of 100) with videos related to

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American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Nature Medicine|February 22, 2019
Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNAJinglan Zhang, Jianli Li, Jennifer B Saucier, et al.
The Journal of Allergy and Clinical Immunology|March 27, 2021
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndromeYin-Huai Chen, Diane B Zastrow, Riley D Metcalfe, et al.
Nature Medicine|January 30, 2019
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNAJinglan Zhang, Jianli Li, Jennifer B Saucier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panelTheodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
JAMA|October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencingYaping Yang, Donna M Muzny, Fan Xia, et al.
Genome Medicine|November 2, 2016
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile deathMohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
Pageof 10

Showing results (71-80 of 100) with videos related to

Sort By:
Pageof 10
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Nature Medicine|February 22, 2019
Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNAJinglan Zhang, Jianli Li, Jennifer B Saucier, et al.
The Journal of Allergy and Clinical Immunology|March 27, 2021
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndromeYin-Huai Chen, Diane B Zastrow, Riley D Metcalfe, et al.
Nature Medicine|January 30, 2019
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNAJinglan Zhang, Jianli Li, Jennifer B Saucier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panelTheodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
JAMA|October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencingYaping Yang, Donna M Muzny, Fan Xia, et al.
Genome Medicine|November 2, 2016
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile deathMohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
Pageof 10