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Pengfei Liu

Showing results (1161-1170 of 1,193) with videos related to

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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.
NPJ Genomic Medicine|December 8, 2021
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalitiesVolkan Okur, Zefu Chen, Liesbeth Vossaert, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
Genetics in Medicine Open|August 23, 2024
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program DirectorsJoshua L Deignan, Vimla Aggarwal, Allen E Bale, et al.
American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2019
Insights into genetics, human biology and disease gleaned from family based genomic studiesJennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Science (New York, N.Y.)|September 4, 2025
Lewy body dementia promotion by air pollutantsXiaodi Zhang, Haiqing Liu, Xiao Wu, et al.
Frontiers in Pharmacology|April 14, 2022
A Clinical Practice Guideline for the Emergency Management of Anaphylaxis (2020)Xiaotong Li, Qingbian Ma, Jia Yin, et al.
American Journal of Human Genetics|July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe CasesYoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.
Pageof 120

Showing results (1161-1170 of 1,193) with videos related to

Sort By:
Pageof 120
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.
NPJ Genomic Medicine|December 8, 2021
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalitiesVolkan Okur, Zefu Chen, Liesbeth Vossaert, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
Genetics in Medicine Open|August 23, 2024
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program DirectorsJoshua L Deignan, Vimla Aggarwal, Allen E Bale, et al.
American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2019
Insights into genetics, human biology and disease gleaned from family based genomic studiesJennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Science (New York, N.Y.)|September 4, 2025
Lewy body dementia promotion by air pollutantsXiaodi Zhang, Haiqing Liu, Xiao Wu, et al.
Frontiers in Pharmacology|April 14, 2022
A Clinical Practice Guideline for the Emergency Management of Anaphylaxis (2020)Xiaotong Li, Qingbian Ma, Jia Yin, et al.
American Journal of Human Genetics|July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe CasesYoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.
Pageof 120