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Paldeep S Atwal

Showing results (21-30 of 85) with videos related to

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Familial Cancer|May 4, 2018
Physician interpretation of variants of uncertain significanceSarah K Macklin, Jessica L Jackson, Paldeep S Atwal, et al.
American Journal of Medical Genetics. Part A|November 9, 2020
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growthPavalan Selvam, Angita Jain, Anvir Cheema, et al.
Familial Cancer|April 5, 2017
A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACAJennifer Gass, Jessica Jackson, Sarah Macklin, et al.
Orphanet Journal of Rare Diseases|July 31, 2020
The infantile neuroaxonal dystrophy rating scale (INAD-RS)Paldeep S Atwal, Mark Midei, Darius Adams, et al.
Redox Biology|March 22, 2020
Sex differences in inflammation, redox biology, mitochondria and autoimmunityDamian N Di Florio, Jon Sin, Michael J Coronado, et al.
Molecular Genetics & Genomic Medicine|July 26, 2018
Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromesSarah Macklin, Ahmed Mohammed, Jessica Jackson, et al.
Case Reports in Critical Care|December 28, 2017
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try AgainChristan D Santos, Robert A Ratzlaff, Jennifer C Meder, et al.
Human Genome Variation|July 14, 2018
Novel variants in <i>COL4A4</i> and <i>COL4A5</i> are rare causes of FSGS in two unrelated familiesStephanie L Hines, Anjali Agarwal, Mohamedanwar Ghandour, et al.
Journal of Clinical Medicine|June 2, 2021
Sex Differences, Genetic and Environmental Influences on Dilated CardiomyopathyAngita Jain, Nadine Norton, Katelyn A Bruno, et al.
Clinical Case Reports|October 14, 2017
Expanded phenotype in a patient with spastic paraplegia 7Jennifer Gass, Patrick R Blackburn, Jessica Jackson, et al.
Pageof 9

Showing results (21-30 of 85) with videos related to

Sort By:
Pageof 9
Familial Cancer|May 4, 2018
Physician interpretation of variants of uncertain significanceSarah K Macklin, Jessica L Jackson, Paldeep S Atwal, et al.
American Journal of Medical Genetics. Part A|November 9, 2020
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growthPavalan Selvam, Angita Jain, Anvir Cheema, et al.
Familial Cancer|April 5, 2017
A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACAJennifer Gass, Jessica Jackson, Sarah Macklin, et al.
Orphanet Journal of Rare Diseases|July 31, 2020
The infantile neuroaxonal dystrophy rating scale (INAD-RS)Paldeep S Atwal, Mark Midei, Darius Adams, et al.
Redox Biology|March 22, 2020
Sex differences in inflammation, redox biology, mitochondria and autoimmunityDamian N Di Florio, Jon Sin, Michael J Coronado, et al.
Molecular Genetics & Genomic Medicine|July 26, 2018
Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromesSarah Macklin, Ahmed Mohammed, Jessica Jackson, et al.
Case Reports in Critical Care|December 28, 2017
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try AgainChristan D Santos, Robert A Ratzlaff, Jennifer C Meder, et al.
Human Genome Variation|July 14, 2018
Novel variants in <i>COL4A4</i> and <i>COL4A5</i> are rare causes of FSGS in two unrelated familiesStephanie L Hines, Anjali Agarwal, Mohamedanwar Ghandour, et al.
Journal of Clinical Medicine|June 2, 2021
Sex Differences, Genetic and Environmental Influences on Dilated CardiomyopathyAngita Jain, Nadine Norton, Katelyn A Bruno, et al.
Clinical Case Reports|October 14, 2017
Expanded phenotype in a patient with spastic paraplegia 7Jennifer Gass, Patrick R Blackburn, Jessica Jackson, et al.
Pageof 9