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Paldeep S Atwal

Showing results (11-20 of 85) with videos related to

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BMC Neurology|October 24, 2019
A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraineAbhimanyu S Ahuja, Todd D Rozen, Paldeep S Atwal
Journal of Pediatric Genetics|April 29, 2020
Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie DiseaseJaspreet Garcha, Angita Jain, Herjot Atwal, et al.
Clinical Case Reports|February 9, 2017
<i>BARD1</i> nonsense variant c.1921C>T in a patient with recurrent breast cancerJennifer Gass, Madeline Tatro, Patrick Blackburn, et al.
Molecular Genetics and Metabolism Reports|July 20, 2018
Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvementAhmed N Mohammad, Katelyn A Bruno, S Hines, et al.
Familial Cancer|June 24, 2017
The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutationsSarah Macklin, Jennifer Gass, Ghada Mitri, et al.
Journal of Pediatric Genetics|April 29, 2020
Novel <i>COL11A2</i> Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the LiteraturePavalan Selvam, Shekhar Singh, Angita Jain, et al.
Case Reports in Genetics|November 11, 2017
Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate MetabolizerSofia Garcia, Michael Schuh, Anvir Cheema, et al.
Human Heredity|October 27, 2021
Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic DiseasesKarishma Mahtani, Diana Park, Jessica Abbott, et al.
Developmental Medicine and Child Neurology|September 20, 2025
Psychometric properties of the Infantile Neuroaxonal Dystrophy Rating ScaleAlessandra Girardi, Linda Abetz-Webb, Katja Rudell, et al.
Journal of Human Genetics|March 18, 2016
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiencyPaldeep S Atwal, Casey R Medina, Lindsay C Burrage, et al.
Pageof 9

Showing results (11-20 of 85) with videos related to

Sort By:
Pageof 9
BMC Neurology|October 24, 2019
A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraineAbhimanyu S Ahuja, Todd D Rozen, Paldeep S Atwal
Journal of Pediatric Genetics|April 29, 2020
Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie DiseaseJaspreet Garcha, Angita Jain, Herjot Atwal, et al.
Clinical Case Reports|February 9, 2017
<i>BARD1</i> nonsense variant c.1921C>T in a patient with recurrent breast cancerJennifer Gass, Madeline Tatro, Patrick Blackburn, et al.
Molecular Genetics and Metabolism Reports|July 20, 2018
Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvementAhmed N Mohammad, Katelyn A Bruno, S Hines, et al.
Familial Cancer|June 24, 2017
The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutationsSarah Macklin, Jennifer Gass, Ghada Mitri, et al.
Journal of Pediatric Genetics|April 29, 2020
Novel <i>COL11A2</i> Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the LiteraturePavalan Selvam, Shekhar Singh, Angita Jain, et al.
Case Reports in Genetics|November 11, 2017
Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate MetabolizerSofia Garcia, Michael Schuh, Anvir Cheema, et al.
Human Heredity|October 27, 2021
Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic DiseasesKarishma Mahtani, Diana Park, Jessica Abbott, et al.
Developmental Medicine and Child Neurology|September 20, 2025
Psychometric properties of the Infantile Neuroaxonal Dystrophy Rating ScaleAlessandra Girardi, Linda Abetz-Webb, Katja Rudell, et al.
Journal of Human Genetics|March 18, 2016
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiencyPaldeep S Atwal, Casey R Medina, Lindsay C Burrage, et al.
Pageof 9