Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Harjeet Rai"'
Publikováno v:
Clinical Epidemiology and Global Health, Vol 28, Iss , Pp 101700- (2024)
Background: The establishment of the Ayushman Arogya Mandir marks a fundamental change in India's approach to healthcare. The present study aimed to examine the effectiveness and shortcomings of health packages extended through the Ayushman Arogya Ma
Externí odkaz:
https://doaj.org/article/f1b1828a8b614906800a8aaa7c3cedb6
Autor:
Virginia Hill, Andrew R. Webster, Sarah Hull, Penelope Thomson, Harjeet Rai, Anthony T. Moore, Gavin Arno, Stacey Mutch
Publikováno v:
American Journal of Medical Genetics Part A. 167:1601-1604
Incontinentia pigmenti (IP) is an X-linked, dominant genodermatosis usually fatal in utero in males. In rare circumstances, survival is possible due to abnormal karyotype or somatic mosaicism. In this report, the mechanism and significance of loss of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49527bd918f2a174494b153ff2161afb
https://doi.org/10.1002/ajmg.a.37004
https://doi.org/10.1002/ajmg.a.37004
Publikováno v:
European Journal of Human Genetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dd8a2bac2a9b0fdcaeab381f53663bce
https://pubmed.ncbi.nlm.nih.gov/30002500
https://pubmed.ncbi.nlm.nih.gov/30002500
Autor:
Kevin S Channer, David Lodwick, Daniel Martin, Alyn H. Morice, John R. Thompson, Nilesh J. Samani, Harjeet Rai, Laurence O'Toole, K. L. Woods, Sue Fletcher
Publikováno v:
Journal of the American College of Cardiology. 28:338-344
Objectives. We sought to prospectively investigate whether genetic variation at the angiotensin-converting enzyme gene locus defined by an insertion (I)/deletion (D) polymorphism influences the risk of myocardial infarction or prognosis after infarct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9448db37d38b0ae9962036a0cba13fd4
https://doi.org/10.1016/0735-1097(96)00139-8
https://doi.org/10.1016/0735-1097(96)00139-8
Autor:
Kim Oakhill, Sarah Waller, Annie McNinch, Howard Martin, Sarah P Meredith, Arabella V. Poulson, Allan J. Richards, Harjeet Rai, Becky Treacy, Joanne Whittaker, Martin P. Snead
Publikováno v:
Human mutation. 31(6)
Stickler syndrome is a dominantly inherited disorder affecting the fibrillar type II/XI collagen molecules expressed in vitreous and cartilage. Mutations have been found in COL2A1, COL11A1 and COL11A2. It has a highly variable phenotype that can incl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::147953e3e6430165444ce49cca654229
https://pubmed.ncbi.nlm.nih.gov/20513134
https://pubmed.ncbi.nlm.nih.gov/20513134
Autor:
P. R. Winship, Harjeet Rai
Publikováno v:
British journal of haematology. 92(2)
We report the incidence of a prevalent polymorphism at position -703 in the promoter region of the factor IX gene in caucasian individuals. This DNA change was originally reported as one of two changes in the factor IX gene of a severely affected hae
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07aa8c6309bb4eb980b752474618ef5e
https://pubmed.ncbi.nlm.nih.gov/8603026
https://pubmed.ncbi.nlm.nih.gov/8603026
Autor:
Philip W. P. Bearcroft, John D. Scott, Arabella V. Poulson, A Ang, Joanne Whittaker, Harjeet Rai, Maureen Laidlaw, Allan J. Richards, David M. Baguley, Martin P. Snead, Becky Treacy
Publikováno v:
Human Mutation. 27:1156-1156
Stickler syndrome is a genetically heterogenous disorder that affects the ocular, skeletal, and auditory systems. To date three genes, COL2A1, COL11A1, and COL11A2, encoding the heterotypic type II/XI collagen fibrils present in vitreous and cartilag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc5947784c9f600b46a3d3b88a11ba36
https://doi.org/10.1002/humu.20438
https://doi.org/10.1002/humu.20438