WorldCat Identities

Atwal, Paldeep S.

Overview
Works: 17 works in 17 publications in 1 language and 33 library holdings
Roles: Other, Contributor
Publication Timeline
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Most widely held works by Paldeep S Atwal
Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families by Stephanie L Hines( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome( )

1 edition published in 2015 in English and held by 2 WorldCat member libraries worldwide

A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf Syndrome( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations by Sarah Macklin( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms by Sandra Jansen( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1 by Charu Kaiwar( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Physician interpretation of variants of uncertain significance by Sarah K Macklin( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics by Patrick Blackburn( )

1 edition published in 2016 in English and held by 2 WorldCat member libraries worldwide

Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine by Abhimanyu S Ahuja( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families by Stephanie L Hines( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA by Jennifer Gass( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18( )

1 edition published in 2015 in English and held by 2 WorldCat member libraries worldwide

Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor( )

1 edition published in 2017 in English and held by 1 WorldCat member library worldwide

Abstract : Introduction: Alexander disease is a rare neurodegenerative disease caused by variants in the glial fibrillary acidic protein gene (GFAP). This disorder can develop as an infantile, juvenile or adult-onset form and is characterized by several clinical features, including macrocephaly, seizures, ataxia, and bulbar/pseudobulbar signs. While the majority of these patients have the more progressive infantile form which causes severe leukodystrophy and early death; the less common adult form is more variable (ie, onset age, symptoms), with bulbar dysfunction as the primary feature. Case Report: In our investigation, we describe a patient with progressive neuromuscular issues including dyspnea, dysphagia, dysarthria and progressive ataxia with palatal tremor. Conclusions: Through genetic testing, we determined that our patient has a novel variant in GFAP typical of Alexander disease
 
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Audience Level
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Audience Level
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  Kids General Special  
Audience level: 0.97 (from 0.88 for Novel COL1 ... to 0.97 for Novel COL1 ...)

Languages
English (17)