Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Shalini, Bahl"'
Autor:
Anastasia Ambrose, Shalini Bahl, Saloni Sharma, Dan Zhang, Clara Hung, Shailly Jain-Ghai, Alicia Chan, Saadet Mercimek-Andrews
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Primary mitochondrial diseases (PMD) are one of the most common metabolic genetic disorders. They are due to pathogenic variants in the mitochondrial genome (mtDNA) or nuclear genome (nDNA) that impair mitochondrial function and/o
Externí odkaz:
https://doaj.org/article/78ff21b2cc8b491ca7332525e39acddb
Autor:
Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101055- (2024)
Background: Galactosemia type I is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase deficiency, encoded by GALT. To investigate the phenotypes, genotypes and long-term outcomes of galactosemia, we
Externí odkaz:
https://doaj.org/article/88374486eb8042e7a1ab271fd2577fbb
Autor:
Anastasia Ambrose, Melissa Sheehan, Shalini Bahl, Taryn Athey, Shailly Ghai-Jain, Alicia Chan, Saadet Mercimek-Andrews
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects are a group of inherited metabolic diseases. We performed a retrospective cohort study to report on the phenotypic and genotypic spectrum of mitochondr
Externí odkaz:
https://doaj.org/article/6e097366b4a24929b021bb1bf5bea47a
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders. Methods We reviewed electronic patient ch
Externí odkaz:
https://doaj.org/article/54ad4b00b3744d1188521efbe903996f
Autor:
Apurba Mainali, Taryn Athey, Shalini Bahl, Clara Hung, Oana Caluseriu, Alicia Chan, Alison Eaton, Shailly Jain Ghai, Peter Kannu, Melissa MacPherson, Karen Y. Niederhoffer, Komudi Siriwardena, Saadet Mercimek‐Andrews
Publikováno v:
American Journal of Medical Genetics Part A. 191:510-517
Clinical exome sequencing (ES) is the most comprehensive genomic test to identify underlying genetic diseases in Canada. We performed this retrospective cohort study to investigate the diagnostic yield of clinical ES in adulthood. Inclusion criteria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d79e214f859370a4881855d5ab5fc7c
https://doi.org/10.1002/ajmg.a.63053
https://doi.org/10.1002/ajmg.a.63053
Autor:
Steven S. Chan, Michelle Van Solt, Ryan E. Cruz, Matthew Philp, Shalini Bahl, Nuket Serin, Nelson Borges Amaral, Robert Schindler, Abbey Bartosiak, Smriti Kumar, Murad Canbulut
Publikováno v:
Journal of Consumer Affairs. 56:1312-1331
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbdbe6ecb06b48fd05822850f74e2d1d
https://doi.org/10.1111/joca.12476
https://doi.org/10.1111/joca.12476
Publikováno v:
Journal of Consumer Affairs.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69b3beaf14e1df0bf01a6abc148cf93b
https://doi.org/10.1111/joca.12509
https://doi.org/10.1111/joca.12509
Autor:
Taryn B. T. Athey, Dawn Cordeiro, Shalini Bahl, Saadet Mercimek-Andrews, Abhinav Thakral, Grace Silver
Publikováno v:
Genes, Vol 12, Iss 1227, p 1227 (2021)
Genes
Volume 12
Issue 8
Genes
Volume 12
Issue 8
Introduction: Childhood epilepsy is one of the most common neurological problems. The transferrin isoelectric focusing (TIEF) test is a screening test for congenital disorders of glycosylation (CDG). We identified abnormal TIEF test in children with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e694eb4a858fe79666df5a90572555aa
https://www.mdpi.com/2073-4425/12/8/1227
https://www.mdpi.com/2073-4425/12/8/1227
Publikováno v:
Cold Spring Harbor Perspectives in Medicine. 12:a041322
Breast cancer presents as multiple distinct disease entities. Each tumor harbors diverse cell populations defining a phenotypic heterogeneity that impinges on our ability to treat patients. To date, efforts mainly focused on genetic variants to find
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::039a63f9ab0eef19e593736b5c7a91c6
https://doi.org/10.1101/cshperspect.a041322
https://doi.org/10.1101/cshperspect.a041322
Autor:
Benjamin, Schmeusser, Christina, Borchers, Jeffrey B, Travers, Samia, Borchers, Julian, Trevino, Max, Rubin, Heidi, Donnelly, Karl, Kellawan, Lydia, Carpenter, Shalini, Bahl, Craig, Rohan, Elizabeth, Muennich, Scott, Guenthner, Holly, Hahn, Ali, Rkein, Marc, Darst, Nico, Mousdicas, Elizabeth, Cates, Ulas, Sunar, Trevor, Bihl
Publikováno v:
J Clin Investig Dermatol
We investigated the variations in physician evaluation of skin photodamage based on a published photodamage scale. Of interest is the utility of a 10-level scale ranging from none and mild photodamage to actinic keratosis (AK). The dorsal forearms of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::667975190b3175d5ca1ba91b8974cd79
https://pubmed.ncbi.nlm.nih.gov/33088904
https://pubmed.ncbi.nlm.nih.gov/33088904