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Paldeep S Atwal

Showing results (51-60 of 85) with videos related to

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Case Reports in Genetics|February 7, 2017
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz SyndromeMichael T Zimmermann, Raul A Urrutia, Patrick R Blackburn, et al.
American Journal of Medical Genetics. Part A|October 10, 2020
Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndromeAnna M Armitage, Monica A Kundra, Neda Ghiam, et al.
Case Reports in Medicine|July 14, 2020
Examination of Molecular Effects of <i>MYLK</i> Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic DysfunctionSarah K Macklin, Katelyn A Bruno, Charitha Vadlamudi, et al.
Clinical Case Reports|January 30, 2018
Co-occurrence of a novel <i>PDGFRB</i> variant and likely pathogenic variant in <i>CASR</i> in an individual with extensive intracranial calcifications and hypocalcaemiaNatasha N DeMeo, Jeremy D Burgess, Patrick R Blackburn, et al.
Neurologia I Neurochirurgia Polska|August 19, 2020
A practical approach to adult-onset white matter diseases, with illustrative casesTasneem F Hasan, Philip W Tipton, Kenneth A Vatz, et al.
The Application of Clinical Genetics|September 19, 2017
Maple syrup urine disease: mechanisms and managementPatrick R Blackburn, Jennifer M Gass, Filippo Pinto E Vairo, et al.
American Journal of Medical Genetics. Part A|May 18, 2019
Expansion of the clinical spectrum associated with AARS2-related disordersSiddharth Srivastava, Ankur Butala, Sonal Mahida, et al.
Orphanet Journal of Rare Diseases|May 3, 2020
The natural history of infantile neuroaxonal dystrophyFadie D Altuame, Gretchen Foskett, Paldeep S Atwal, et al.
Molecular Genetics & Genomic Medicine|September 7, 2018
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type IIJohn E Richter, Michael T Zimmermann, Patrick R Blackburn, et al.
Case Reports in Genetics|February 13, 2020
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular ModelingJohn E Richter, Charitha Vadlamudi, Sarah K Macklin, et al.
Pageof 9

Showing results (51-60 of 85) with videos related to

Sort By:
Pageof 9
Case Reports in Genetics|February 7, 2017
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz SyndromeMichael T Zimmermann, Raul A Urrutia, Patrick R Blackburn, et al.
American Journal of Medical Genetics. Part A|October 10, 2020
Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndromeAnna M Armitage, Monica A Kundra, Neda Ghiam, et al.
Case Reports in Medicine|July 14, 2020
Examination of Molecular Effects of <i>MYLK</i> Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic DysfunctionSarah K Macklin, Katelyn A Bruno, Charitha Vadlamudi, et al.
Clinical Case Reports|January 30, 2018
Co-occurrence of a novel <i>PDGFRB</i> variant and likely pathogenic variant in <i>CASR</i> in an individual with extensive intracranial calcifications and hypocalcaemiaNatasha N DeMeo, Jeremy D Burgess, Patrick R Blackburn, et al.
Neurologia I Neurochirurgia Polska|August 19, 2020
A practical approach to adult-onset white matter diseases, with illustrative casesTasneem F Hasan, Philip W Tipton, Kenneth A Vatz, et al.
The Application of Clinical Genetics|September 19, 2017
Maple syrup urine disease: mechanisms and managementPatrick R Blackburn, Jennifer M Gass, Filippo Pinto E Vairo, et al.
American Journal of Medical Genetics. Part A|May 18, 2019
Expansion of the clinical spectrum associated with AARS2-related disordersSiddharth Srivastava, Ankur Butala, Sonal Mahida, et al.
Orphanet Journal of Rare Diseases|May 3, 2020
The natural history of infantile neuroaxonal dystrophyFadie D Altuame, Gretchen Foskett, Paldeep S Atwal, et al.
Molecular Genetics & Genomic Medicine|September 7, 2018
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type IIJohn E Richter, Michael T Zimmermann, Patrick R Blackburn, et al.
Case Reports in Genetics|February 13, 2020
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular ModelingJohn E Richter, Charitha Vadlamudi, Sarah K Macklin, et al.
Pageof 9