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Genome Medicine
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July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Ye Cao, Mari J Tokita, Edward S Chen, et al.
Pediatric Neurology
|
June 27, 2024
Epilepsy as a Novel Phenotype of BPTF-Related Disorders
Alessandro Ferretti, Margherita Furlan, Kevin E Glinton, et al.
Clinical Genetics
|
May 8, 2021
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy
Sugi Panneerselvam, Julia Wang, Wenmiao Zhu, et al.
Journal of Medical Genetics
|
August 24, 2016
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO
Daryl A Scott, Andres Hernandez-Garcia, Mahshid S Azamian, et al.
Microbial Pathogenesis
|
March 16, 2020
Ginsenoside Rb 1: A novel therapeutic agent in Staphylococcusaureus-induced Acute Lung Injury with special reference to Oxidative stress and Apoptosis
Aftab Shaukat, Chao Yang, Yaping Yang, et al.
JAMA Network Open
|
December 8, 2020
Development and Validation of a Preoperative Magnetic Resonance Imaging Radiomics-Based Signature to Predict Axillary Lymph Node Metastasis and Disease-Free Survival in Patients With Early-Stage Breast Cancer
Yunfang Yu, Yujie Tan, Chuanmiao Xie, et al.
Nature Genetics
|
March 14, 2017
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
Xia Wang, Wu-Lin Charng, Chun-An Chen, et al.
Nature Communications
|
March 22, 2025
Dynamic ctDNA tracking stratifies relapse risk for triple negative breast cancer patients receiving neoadjuvant chemotherapy
Shunying Li, Yudong Li, Wei Wei, 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 conditions
Tomasz Gambin, Qian Liu, Justyna A Karolak, et al.
Plos Genetics
|
March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
Page
of 41
Search research articles
Search
Showing results (311-320 of 410) with videos related to
Sort By:
Page
of 41
Genome Medicine
|
July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Ye Cao, Mari J Tokita, Edward S Chen, et al.
Pediatric Neurology
|
June 27, 2024
Epilepsy as a Novel Phenotype of BPTF-Related Disorders
Alessandro Ferretti, Margherita Furlan, Kevin E Glinton, et al.
Clinical Genetics
|
May 8, 2021
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy
Sugi Panneerselvam, Julia Wang, Wenmiao Zhu, et al.
Journal of Medical Genetics
|
August 24, 2016
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO
Daryl A Scott, Andres Hernandez-Garcia, Mahshid S Azamian, et al.
Microbial Pathogenesis
|
March 16, 2020
Ginsenoside Rb 1: A novel therapeutic agent in Staphylococcusaureus-induced Acute Lung Injury with special reference to Oxidative stress and Apoptosis
Aftab Shaukat, Chao Yang, Yaping Yang, et al.
JAMA Network Open
|
December 8, 2020
Development and Validation of a Preoperative Magnetic Resonance Imaging Radiomics-Based Signature to Predict Axillary Lymph Node Metastasis and Disease-Free Survival in Patients With Early-Stage Breast Cancer
Yunfang Yu, Yujie Tan, Chuanmiao Xie, et al.
Nature Genetics
|
March 14, 2017
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
Xia Wang, Wu-Lin Charng, Chun-An Chen, et al.
Nature Communications
|
March 22, 2025
Dynamic ctDNA tracking stratifies relapse risk for triple negative breast cancer patients receiving neoadjuvant chemotherapy
Shunying Li, Yudong Li, Wei Wei, 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 conditions
Tomasz Gambin, Qian Liu, Justyna A Karolak, et al.
Plos Genetics
|
March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
Page
of 41