检索结果 - Raj Ramesar

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  1. 1
    A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis

    A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis 由 Lindsay Gleghorn, Raj Ramesar, Peter Beighton, Gillian A. Wallis

    出版 2005
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  2. 2
    Trends in Suicide Mortality in South Africa, 1997 to 2016

    Trends in Suicide Mortality in South Africa, 1997 to 2016 由 Tahira Kootbodien, Nisha Naicker, Kerry Wilson, Raj Ramesar, Leslie London

    出版 2020
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  3. 3
    Immunogenomic Biomarkers for Early Cancer Detection in Lynch Syndrome

    Immunogenomic Biomarkers for Early Cancer Detection in Lynch Syndrome 由 Ramadhani Chambuso, Mbali Mthembu, Evelyn Kaambo, Barbara Robertson, Raj Ramesar

    出版 2022
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  4. 4
    Psychosocial Burden of Sickle Cell Disease on Parents with an Affected Child in Cameroon

    Psychosocial Burden of Sickle Cell Disease on Parents with an Affected Child in Cameroon 由 Ambroise Wonkam, Caryl Zameyo, Dora Mbanya, Jeanne Ngogang, Raj Ramesar, Fru Angwafo

    出版 2013
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  5. 5
    PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients

    PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients 由 Marelize Swart, Heather Whitehorn, Yuan Ren, Peter J. Smith, Raj Ramesar, Collet Dandara

    出版 2012
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  6. 6
    Neuropsychological status of bipolar I disorder: impact of psychosis

    Neuropsychological status of bipolar I disorder: impact of psychosis 由 Jonathan Savitz, Lize van der Merwe, Dan J. Stein, Mark Solms, Raj Ramesar

    出版 2009
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  7. 7
    A Genomic Portrait of Haplotype Diversity and Signatures of Selection in Indigenous Southern African Populations

    A Genomic Portrait of Haplotype Diversity and Signatures of Selection in Indigenous Southern African Populations 由 Emile R. Chimusa, Ayton Meintjies, Milaine Tchanga, Nicola Mulder, Cathal Seoighe, Himla Soodyall, Raj Ramesar

    出版 2015
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  8. 8
    Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia

    Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia 由 Christopher M. Watson, Laura A. Crinnion, Lindsay Gleghorn, William G. Newman, Raj Ramesar, Peter Beighton, Gillian A. Wallis

    出版 2015
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  9. 9
    The Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia Is Associated with Better Hematological Indices and Lower Consultations Rate in Cameroonian Patients and Could Improve Their Survival

    The Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia Is Associated with Better Hematological Indices and Lower Consultations Rate in Cameroonian Patients and Could Improv... 由 Maryam Bibi Rumaney, Valentina Josiane Ngo Bitoungui, Anna Alvera Vorster, Raj Ramesar, André Pascal Kengne, Jeanne Ngogang, Ambroise Wonkam

    出版 2014
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  10. 10
    Association of Variants at BCL11A and HBS1L-MYB with Hemoglobin F and Hospitalization Rates among Sickle Cell Patients in Cameroon

    Association of Variants at BCL11A and HBS1L-MYB with Hemoglobin F and Hospitalization Rates among Sickle Cell Patients in Cameroon 由 Ambroise Wonkam, Valentina Josiane Ngo Bitoungui, Anna Alvera Vorster, Raj Ramesar, Stephen S. Rich, Bamidele O. Tayo, Guillaume Lettre, Jeanne Ngogang

    出版 2014
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  11. 11
    Determining Ancestry Proportions in Complex Admixture Scenarios in South Africa Using a Novel Proxy Ancestry Selection Method

    Determining Ancestry Proportions in Complex Admixture Scenarios in South Africa Using a Novel Proxy Ancestry Selection Method 由 Emile R. Chimusa, Michelle Daya, Marlo Möller, Raj Ramesar, Brenna M. Henn, Paul D. van Helden, Nicola Mulder, Eileen G. Hoal

    出版 2013
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  12. 12
    X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats

    X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats 由 Maria Teresa Bassi, Raj Ramesar, Barbara Caciotti, Ingrid Winship, Alessandro De Grandi, Mirko Riboni, Philip L. Townes, Peter Beighton, Andrea Ballabio, Giuseppe Borsani

    出版 1999
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  13. 13
    Age, absolute CD4 count, and CD4 percentage in relation to HPV infection and the stage of cervical disease in HIV-1-positive women

    Age, absolute CD4 count, and CD4 percentage in relation to HPV infection and the stage of cervical disease in HIV-1-positive women 由 Ramadhani Chambuso, Raj Ramesar, Evelyn Kaambo, Alltalents T. Murahwa, Mohammed O. E. Abdallah, Michelle De Sousa, Lynette Denny, Anna‐Lise Williamson, Clive M. Gray

    出版 2020
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  14. 14
    Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa

    Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa 由 George Rebello, Raj Ramesar, Alvera Vorster, Lisa Roberts, Liezle Ehrenreich, Ekow Oppon, Dumisani Gama, Soraya Bardien, Jacquie Greenberg, Giuseppe Bonapace, Abdül Waheed, Gul N. Shah, William S. Sly

    出版 2004
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  15. 15
    Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in<i>ABCC6</i>

    Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in<i>ABCC6</i> 由 Sara Miksch, Amanda L. Lumsden, Ulf P. Guenther, Dorothee Foernzler, Stéphanie Christen-Zäch, Carol Daugherty, Raj Ramesar, Mark Lebwohl, Daniel Hohl, Kenneth H. Neldner, Klaus Lindpaintner, Robert I. Richards, Berthold Struk

    出版 2005
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  16. 16
    Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

    Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa 由 Michael D. Weston, James D. Eudy, Shigetoshi Fujita, S.-F. Yao, Shin‐ichi Usami, Cor W. R. J. Cremers, J. Greenburg, Raj Ramesar, Alessandro Martini, C. Möller, Richard J. Smith, János Sümegi, William J. Kimberling

    出版 2000
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  17. 17
    Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans

    Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans 由 Ananyo Choudhury, Michèle Ramsay, Scott Hazelhurst, Shaun Aron, Soraya Bardien, Gerrit Botha, Emile R. Chimusa, Alan Christoffels, Junaid Gamieldien, Mahjoubeh J. Sefid-Dashti, Fourie Joubert, Ayton Meintjes, Nicola Mulder, Raj Ramesar, D. Jasper G. Rees, Kathrine Scholtz, Dhriti Sengupta, Himla Soodyall, Philip A. Venter, Louise Warnich, Michael S. Pepper

    出版 2017
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  18. 18
    Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

    Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK 由 Ernst Reichenberger, Valdenize Tiziani, Shôji Watanabe, Lucy Park, Yasuyoshi Ueki, Carla Santanna, Scott T. Baur, Rita Shiang, Dorothy K. Grange, Peter Beighton, Jessica C. Gardner, Herman A. Hamersma, S. L. Sellars, Raj Ramesar, Andrew C. Lidral, Annmarie Sommer, Cassio Menezes Raposo do Amaral, Robert J. Gorlin, John B. Mulliken, Bjørn R. Olsen

    出版 2001
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  19. 19
    Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up

    Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up 由 John C. Mathers, Faye Elliott, Finlay Macrae, Jukka‐Pekka Mecklin, Gabriela Möslein, Fiona E. McRonald, Lucio Bertario, D. Gareth Evans, Anne‐Marie Gerdes, Judy Ho, Annika Lindblom, Patrick J. Morrison, Jem Rashbass, Raj Ramesar, Toni T. Seppälä, Huw Thomas, Harsh Sheth, Kirsi Pylvänäinen, Lynn Reed, Gillian M. Borthwick, D. Timothy Bishop, John Burn

    出版 2022
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  20. 20
    Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

    Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma 由 Laurence Pierrache, Adva Kimchi, Rinki Ratnapriya, Lisa Roberts, Galuh Astuti, Alexey Obolensky, Avigail Beryozkin, Martha J. H. Tjon-Fo-Sang, J. Schuil, Caroline C. W. Klaver, Ernie M.H.F. Bongers, Lonneke Haer‐Wigman, Nicoline Schalij, Martijn H. Breuning, Gratia M. Fischer, Eyal Banin, Raj Ramesar, Anand Swaroop, L. Ingeborgh van den Born, Dror Sharon, Frans P.M. Cremers

    出版 2017
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