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Paldeep S Atwal

Showing results (1-10 of 85) with videos related to

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Journal of Pediatric Genetics|September 13, 2016
A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18Paldeep S Atwal
Molecular Genetics and Metabolism|December 15, 2015
Molybdenum cofactor deficiencyPaldeep S Atwal, Fernando Scaglia
Journal of Pediatric Genetics|September 13, 2016
A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion SyndromePaldeep S Atwal, C Macmurdo
Journal of Pediatric Genetics|August 14, 2019
Novel <i>HIVEP2</i> Variant p.Q1248* is Associated with Developmental Delay: A Case ReportAngita Jain, Paldeep S Atwal
Journal of Pediatric Genetics|May 1, 2018
A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129SerAhmed N Mohammad, Paldeep S Atwal
Trends in Molecular Medicine|February 9, 2020
Only 20-25% Deuteration of Polyunsaturated Fatty Acids Prevents Lipid PeroxidationPaldeep S Atwal, Mark Midei, Peter Milner
Case Reports in Genetics|May 26, 2018
Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery AneurysmAhmed Mohammad, Haytham Helmi, Paldeep S Atwal
Proceedings of the National Academy of Sciences of the United States of America|July 18, 2019
Reply to Annis et al.: Is quasi-Mendelian mtDNA competition enough to drive transmission of paternal mtDNA?Jesse Slone, Shiyu Luo, Paldeep S Atwal, et al.
Journal of Pediatric Genetics|January 25, 2020
A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf SyndromeAngita Jain, Pavalan Selvam, Herjot Atwal, et al.
Molecular Genetics and Metabolism Reports|April 27, 2016
Holocarboxylase synthetase deficiency pre and post newborn screeningTaraka R Donti, Patrick R Blackburn, Paldeep S Atwal
Pageof 9

Showing results (1-10 of 85) with videos related to

Sort By:
Pageof 9
Journal of Pediatric Genetics|September 13, 2016
A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18Paldeep S Atwal
Molecular Genetics and Metabolism|December 15, 2015
Molybdenum cofactor deficiencyPaldeep S Atwal, Fernando Scaglia
Journal of Pediatric Genetics|September 13, 2016
A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion SyndromePaldeep S Atwal, C Macmurdo
Journal of Pediatric Genetics|August 14, 2019
Novel <i>HIVEP2</i> Variant p.Q1248* is Associated with Developmental Delay: A Case ReportAngita Jain, Paldeep S Atwal
Journal of Pediatric Genetics|May 1, 2018
A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129SerAhmed N Mohammad, Paldeep S Atwal
Trends in Molecular Medicine|February 9, 2020
Only 20-25% Deuteration of Polyunsaturated Fatty Acids Prevents Lipid PeroxidationPaldeep S Atwal, Mark Midei, Peter Milner
Case Reports in Genetics|May 26, 2018
Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery AneurysmAhmed Mohammad, Haytham Helmi, Paldeep S Atwal
Proceedings of the National Academy of Sciences of the United States of America|July 18, 2019
Reply to Annis et al.: Is quasi-Mendelian mtDNA competition enough to drive transmission of paternal mtDNA?Jesse Slone, Shiyu Luo, Paldeep S Atwal, et al.
Journal of Pediatric Genetics|January 25, 2020
A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf SyndromeAngita Jain, Pavalan Selvam, Herjot Atwal, et al.
Molecular Genetics and Metabolism Reports|April 27, 2016
Holocarboxylase synthetase deficiency pre and post newborn screeningTaraka R Donti, Patrick R Blackburn, Paldeep S Atwal
Pageof 9