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Paldeep S Atwal

Showing results (41-50 of 85) with videos related to

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Molecular Genetics & Genomic Medicine|April 28, 2018
Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational familyThomas R Caulfield, John E Richter, Emily E Brown, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiencyMontserrat Lara-Velazquez, Alexander Perdomo-Pantoja, Patrick R Blackburn, et al.
Biomolecules|September 16, 2020
Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation DomainMathew A Coban, Patrick R Blackburn, Murray L Whitelaw, et al.
JIMD Reports|December 1, 2016
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated PropionylcarnitineGerarda Cappuccio, Paldeep S Atwal, Taraka R Donti, et al.
Neurologia I Neurochirurgia Polska|April 23, 2018
Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variantTakuya Konno, Patrick R Blackburn, Todd D Rozen, et al.
Case Reports in Genetics|April 24, 2018
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in <i>TNFAIP3</i> That Segregates with Disease in a Family with Chronic Urticaria and AngioedemaAntoneicka L Harris, Patrick R Blackburn, John E Richter, et al.
Molecular Genetics and Metabolism|May 10, 2015
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasmaPaldeep S Atwal, Taraka R Donti, Aaron L Cardon, et al.
Hereditary Cancer in Clinical Practice|July 25, 2017
Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, et al.
Medicina (Kaunas, Lithuania)|May 18, 2019
Genomic Observations of a Rare/Pathogenic <i>SMAD3</i> Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural InvestigationsJohn E Richter, Ayesha Samreen, Charitha Vadlamudi, et al.
Molecular Syndromology|September 26, 2022
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of <i>GALNS</i> with Resultant Morquio Syndrome with Two Successful PregnanciesPavalan Selvam, Angita Jain, Jessica Abbott, et al.
Pageof 9

Showing results (41-50 of 85) with videos related to

Sort By:
Pageof 9
Molecular Genetics & Genomic Medicine|April 28, 2018
Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational familyThomas R Caulfield, John E Richter, Emily E Brown, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiencyMontserrat Lara-Velazquez, Alexander Perdomo-Pantoja, Patrick R Blackburn, et al.
Biomolecules|September 16, 2020
Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation DomainMathew A Coban, Patrick R Blackburn, Murray L Whitelaw, et al.
JIMD Reports|December 1, 2016
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated PropionylcarnitineGerarda Cappuccio, Paldeep S Atwal, Taraka R Donti, et al.
Neurologia I Neurochirurgia Polska|April 23, 2018
Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variantTakuya Konno, Patrick R Blackburn, Todd D Rozen, et al.
Case Reports in Genetics|April 24, 2018
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in <i>TNFAIP3</i> That Segregates with Disease in a Family with Chronic Urticaria and AngioedemaAntoneicka L Harris, Patrick R Blackburn, John E Richter, et al.
Molecular Genetics and Metabolism|May 10, 2015
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasmaPaldeep S Atwal, Taraka R Donti, Aaron L Cardon, et al.
Hereditary Cancer in Clinical Practice|July 25, 2017
Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, et al.
Medicina (Kaunas, Lithuania)|May 18, 2019
Genomic Observations of a Rare/Pathogenic <i>SMAD3</i> Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural InvestigationsJohn E Richter, Ayesha Samreen, Charitha Vadlamudi, et al.
Molecular Syndromology|September 26, 2022
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of <i>GALNS</i> with Resultant Morquio Syndrome with Two Successful PregnanciesPavalan Selvam, Angita Jain, Jessica Abbott, et al.
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