Atwal PS - Search Results

1

Application of the community dialogues method to identify ethical values and priorities related to pharmacogenomics.

Determeyer P, Crowder J, O'Mahony E, Esquivel B, Atwal H, Atwal PS, Rogers SL. Determeyer P, et al. Among authors: atwal ps. Pharmacogenomics. 2021 Jul;22(11):693-701. doi: 10.2217/pgs-2021-0017. Epub 2021 Jun 11. Pharmacogenomics. 2021. PMID: 34114883 Review.

2

Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology.

Gass J, Atwal HK, Atwal PS. Gass J, et al. Among authors: atwal hk, atwal ps. Mol Genet Metab Rep. 2017 Jan 11;10:51. doi: 10.1016/j.ymgmr.2017.01.001. eCollection 2017 Mar. Mol Genet Metab Rep. 2017. PMID: 28116243 Free PMC article. No abstract available.

3

The clinical heterogeneity of late-onset MELAS.

Atwal HK, Gass J, Blackburn PR, Atwal PS. Atwal HK, et al. Among authors: atwal ps. Mol Genet Metab Rep. 2017 Apr 15;11:30. doi: 10.1016/j.ymgmr.2017.04.003. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28443237 Free PMC article. No abstract available.

4

Maple syrup urine disease: mechanisms and management.

Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS. Blackburn PR, et al. Among authors: atwal hk, atwal ps. Appl Clin Genet. 2017 Sep 6;10:57-66. doi: 10.2147/TACG.S125962. eCollection 2017. Appl Clin Genet. 2017. PMID: 28919799 Free PMC article. Review.

5

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

Garcia S, Schuh M, Cheema A, Atwal H, Atwal PS. Garcia S, et al. Among authors: atwal ps, atwal h. Case Rep Genet. 2017;2017:6236714. doi: 10.1155/2017/6236714. Epub 2017 Oct 16. Case Rep Genet. 2017. PMID: 29123929 Free PMC article.

6

Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.

DeMeo NN, Burgess JD, Blackburn PR, Gass JM, Richter J, Atwal HK, van Gerpen JA, Atwal PS. DeMeo NN, et al. Among authors: atwal hk, atwal ps. Clin Case Rep. 2017 Nov 20;6(1):8-13. doi: 10.1002/ccr3.1265. eCollection 2018 Jan. Clin Case Rep. 2017. PMID: 29375828 Free PMC article.

7

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

Jain A, Selvam P, Atwal H, Atwal PS. Jain A, et al. Among authors: atwal ps, atwal h. J Pediatr Genet. 2020 Mar;9(1):63-65. doi: 10.1055/s-0039-1694767. Epub 2019 Aug 26. J Pediatr Genet. 2020. PMID: 31976147 Free PMC article.

8

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

Selvam P, Singh S, Jain A, Atwal H, Atwal PS. Selvam P, et al. Among authors: atwal ps, atwal h. J Pediatr Genet. 2020 Jun;9(2):117-120. doi: 10.1055/s-0039-1698446. Epub 2019 Oct 16. J Pediatr Genet. 2020. PMID: 32341816 Free PMC article.

9

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

Garcha J, Jain A, Atwal H, Sevlam P, Atwal PS. Garcha J, et al. Among authors: atwal ps, atwal h. J Pediatr Genet. 2020 Jun;9(2):142-144. doi: 10.1055/s-0039-1700535. Epub 2019 Oct 21. J Pediatr Genet. 2020. PMID: 32341821 Free PMC article.

10

Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.

Selvam P, Jain A, Cheema A, Atwal H, Forghani I, Atwal PS. Selvam P, et al. Among authors: atwal ps, atwal h. Am J Med Genet A. 2021 Feb;185(2):539-543. doi: 10.1002/ajmg.a.61960. Epub 2020 Nov 9. Am J Med Genet A. 2021. PMID: 33166063

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