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Christine M Eng

Showing results (51-60 of 100) with videos related to

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NEJM AI|July 4, 2024
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian DisordersDongxue Mao, Chaozhong Liu, Linhua Wang, et al.
Nature Genetics|March 14, 2017
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformationsXia Wang, Wu-Lin Charng, Chun-An Chen, et al.
American Journal of Medical Genetics. Part A|April 13, 2021
Heterozygous variants in SPTBN1 cause intellectual disability and autismJill A Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2020
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditionsTomasz Gambin, Qian Liu, Justyna A Karolak, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
American Journal of Medical Genetics. Part A|March 29, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature reviewAkash Kumar, Diane B Zastrow, Elijah J Kravets, et al.
The New England Journal of Medicine|October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disordersYaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Molecular diagnostic experience of whole-exome sequencing in adult patientsJennifer E Posey, Jill A Rosenfeld, Regis A James, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencingYanming Feng, Xiaoyan Ge, Linyan Meng, et al.
Pageof 10

Showing results (51-60 of 100) with videos related to

Sort By:
Pageof 10
NEJM AI|July 4, 2024
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian DisordersDongxue Mao, Chaozhong Liu, Linhua Wang, et al.
Nature Genetics|March 14, 2017
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformationsXia Wang, Wu-Lin Charng, Chun-An Chen, et al.
American Journal of Medical Genetics. Part A|April 13, 2021
Heterozygous variants in SPTBN1 cause intellectual disability and autismJill A Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2020
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditionsTomasz Gambin, Qian Liu, Justyna A Karolak, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
American Journal of Medical Genetics. Part A|March 29, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature reviewAkash Kumar, Diane B Zastrow, Elijah J Kravets, et al.
The New England Journal of Medicine|October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disordersYaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Molecular diagnostic experience of whole-exome sequencing in adult patientsJennifer E Posey, Jill A Rosenfeld, Regis A James, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencingYanming Feng, Xiaoyan Ge, Linyan Meng, et al.
Pageof 10