Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm

por Mohammad, Ahmed, Helmi, Haytham, Atwal, Paldeep S.
Publicado 2018

A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities()

por Abbott, Jessica, Senzatimore, Mia, Atwal, Paldeep
Publicado 2022

A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine

por Ahuja, Abhimanyu S., Rozen, Todd D., Atwal, Paldeep S.
Publicado 2019

Holocarboxylase synthetase deficiency pre and post newborn screening

por Donti, Taraka R., Blackburn, Patrick R., Atwal, Paldeep S.
Publicado 2016

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

por Mohammad, Ahmed N., Bruno, Katelyn A., Hines, S., Atwal, Paldeep S.
Publicado 2018

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer

por Gass, Jennifer, Tatro, Madeline, Blackburn, Patrick, Hines, Stephanie, Atwal, Paldeep S.
Publicado 2017

Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer

por Garcia, Sofia, Schuh, Michael, Cheema, Anvir, Atwal, Herjot, Atwal, Paldeep S.
Publicado 2017

19-Year Follow-up of A Patient With Severe Glutathione Synthetase Deficiency

por Atwal, Paldeep S., Medina, Casey R., Burrage, Lindsay C., Sutton, V. Reid
Publicado 2016

The infantile neuroaxonal dystrophy rating scale (INAD-RS)

por Atwal, Paldeep S., Midei, Mark, Adams, Darius, Fay, Alexander, Heerinckx, Frederic, Milner, Peter
Publicado 2020

Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes

por Macklin, Sarah, Mohammed, Ahmed, Jackson, Jessica, Hines, Stephanie L., Atwal, Paldeep S., Caulfield, Thomas
Publicado 2018

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient

por Gass, Jennifer, Blackburn, Patrick, Jackson, Jessica, Harris, Kimberly, Selcen, Duygu, Dimberg, Elliot, Atwal, Paldeep
Publicado 2017

Expanded phenotype in a patient with spastic paraplegia 7

por Gass, Jennifer, Blackburn, Patrick R., Jackson, Jessica, Macklin, Sarah, van Gerpen, Jay, Atwal, Paldeep S.
Publicado 2017

Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again

por Santos, Christan D., Ratzlaff, Robert A., Meder, Jennifer C., Atwal, Paldeep S., Joyce, Nicole E.
Publicado 2017

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

por Hines, Stephanie L., Agarwal, Anjali, Ghandour, Mohamedanwar, Aslam, Nabeel, Mohammad, Ahmed N., Atwal, Paldeep S.
Publicado 2018

Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

por Hines, Stephanie L., Agarwal, Anjali, Ghandour, Mohamedanwar, Aslam, Nabeel, Mohammad, Ahmed N., Atwal, Paldeep S.
Publicado 2018

Sex differences in inflammation, redox biology, mitochondria and autoimmunity

por Di Florio, Damian N., Sin, Jon, Coronado, Michael J., Atwal, Paldeep S., Fairweather, DeLisa
Publicado 2020

Sex Differences, Genetic and Environmental Influences on Dilated Cardiomyopathy

por Jain, Angita, Norton, Nadine, Bruno, Katelyn A., Cooper, Leslie T., Atwal, Paldeep S., Fairweather, DeLisa
Publicado 2021

Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)

por Sunde, Kiri, Blackburn, Patrick R., Cheema, Anvir, Gass, Jennifer, Jackson, Jessica, Macklin, Sarah, Atwal, Paldeep S.
Publicado 2016

Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype

por Richter, John E, Robles, Hector G, Mauricio, Elizabeth, Mohammad, Ahmed, Atwal, Paldeep S, Caulfield, Thomas R
Publicado 2018

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia

por Hines, Stephanie L., Richter, John E., Mohammad, Ahmed N., Mahim, Jain, Atwal, Paldeep S., Caulfield, Thomas R.
Publicado 2019