المؤلفون: Bisschoff, Michelle, Smuts, Izelle, Dercksen, Marli, Schoonen, Maryke, Vorster, Barend C., Van der Watt, George, Spencer, Careni, Naidu, Kireshnee, Henning, Franclo, Meldau, Surita, McFarland, Robert, Taylor, Robert W., Patel, Krutik, Fassad, Mahmoud R., Vandrovcova, Jana, Wanders, Ronald J.A., Van der Westhuizen, Francois H.

مصطلحات موضوعية: Multiple acyl-CoA dehydrogenase deficiency (MADD), Electron transfer flavoprotein-ubiquinone oxidoreductase gene (ETFDH), South Africa (SA), Glutaric aciduria type II, Riboflavin, International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD)

وصف الملف: application/pdf

Relation: Bisschoff, M., Smuts, I., Dercksen, M. et al. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet Journal of Rare Diseases 19, 15 (2024). https://doi.org/10.1186/s13023-023-03014-8.; 1750-1172 (online); http://hdl.handle.net/2263/94131

الاتاحة: http://hdl.handle.net/2263/94131
https://doi.org/10.1186/s13023-023-03014-8

المؤلفون: Henning, Franclo, Naidu, Kireshnee, Record, Christopher J., Dominik, Natalia, Vandrovcova, Jana, Lubbe, Frans, Dercksen, Marli, Wilson, Lindsay A., Van Der Westhuizen, Francois, Reilly, Mary M., Houlden, Henry, Hanna, Michael G., Carr, Jonathan

المساهمون: Wellcome Trust, Muscular Dystrophy Association, Medical Research Foundation

المصدر: Movement Disorders Clinical Practice ; ISSN 2330-1619 2330-1619

الاتاحة: http://dx.doi.org/10.1002/mdc3.14178

المؤلفون: Meldau, Surita, Ackermann, Sally, Riordan, Gillian, van der Watt, George F., Spencer, Careni, Raga, Sharika, Khan, Kashief, Blackhurst, Dee M., van der Westhuizen, Francois H.

المساهمون: National Health Laboratory Service

المصدر: Molecular Genetics and Metabolism Reports ; volume 39, page 101078 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2024.101078
https://api.elsevier.com/content/article/PII:S2214426924000314?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426924000314?httpAccept=text/plain

المؤلفون: Bearden, David R, Wa Somwe, Somwe, Nandeesh, Bevinahalli N, Narayanappa, Gayathri, van der Maarel, Silvère M, Govindaraj, Periyasamy, Tallapaka, Karthik B, Nagappa, Madhu, Ceylan, Gülay Güleç, Semerci Gündüz, C Nur, Çavdarlı, Büşranur, Ceylan, Ahmet Cevdet, van der Vliet, Patrick J, Mahungu, Amokelani C, Steyn, Elizabeth C, Trainor, Christina I, Töpf, Ana, Mishra, Rinkle, Reyaz, Alisha, Lemmers, Richard J L F, Srivastava, Kosha, Nashi, Saraswati, Vengalil, Seena, Nonyane, Malebo, Lubbe, Elsa, Human, Ronel, Jonvik, Hallgeir, Vorster, Armand, Bisschoff, Michelle, Schoonen, Maryke, Dalal, Ashwin, Bhatia, Rohit, Marques, Wilson, Tomaselli, Pedro J, Sobreira, Claudia Ferreira da Rosa, van der Westhuizen, Francois H, Smuts, Izelle, Taylor, Robert W, McFarland, Robert, Heckmann, Jeannine M, Patel, Krutik, Wilmshurst, Jo M, Henning, Franclo, Bugiardini, Enrico, Sarkozy, Anna, Topaloğlu, Haluk, Srivastava, M V Padma, Frezatti, Rodrigo S S, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G, Polat, Ipek, Oktay, YAVUZ, Hiz, AYŞE SEMRA, Yiş, ULUÇ, Ramdharry, Gita M, Kvalsund, Michelle P, Dominik, Natalia, Kapapa, Musambo M, Köken, Özlem Yayıcı, Naidu, Kireshnee, Raga, Sharika, Schon, Katherine R, Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Gao, Fei, Fassad, Mahmoud R, Nel, Melissa, Morsy, Heba, Efthymiou, Stephanie

Relation: 75d283da-3da5-4981-9dc4-c9975e87960c; https://avesis.deu.edu.tr/publication/details/75d283da-3da5-4981-9dc4-c9975e87960c/oai

الاتاحة: https://doi.org/10.1093/brain/awad254
https://avesis.deu.edu.tr/publication/details/75d283da-3da5-4981-9dc4-c9975e87960c/oai

المؤلفون: Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo SS, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard JLF, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, MV Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert DS, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G

المصدر: Brain , Article awad254. (2023) (In press).

مصطلحات موضوعية: Genomic medicine, inherited neuromuscular disease, capacity building, low-to-middle income country, equality and diversity

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10181002/1/awad254.pdf; https://discovery.ucl.ac.uk/id/eprint/10181002/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10181002/1/awad254.pdf
https://discovery.ucl.ac.uk/id/eprint/10181002/

المؤلفون: Van der Westhuizen, Francois Duplessis.

مصطلحات موضوعية: Income tax

الاتاحة: http://upetd.up.ac.za/thesis/available/etd-04092009-142658/

المؤلفون: Van der Westhuizen, Francois Erasmus

Thesis Advisors: Burger, A. J., Knoetze, J. H., Stellenbosch University. Faculty of Engineering. Dept. of Process Engineering.

مصطلحات موضوعية: Naphthalene, Diffusion coefficient, Structures packing, Vapour phase mass transfer coefficient, Dissertations, Process engineering, Theses, Chemical engineering

الاتاحة: http://hdl.handle.net/10019.1/1966

المؤلفون: Raga, Sharika V., Wilmshurst, Jo Madeleine, Smuts, Izelle, Meldau, Surita, Bardien, Soraya, Schoonen, Maryke, Van der Westhuizen, Francois Hendrikus

مصطلحات موضوعية: Africa, Neuromuscular disease, Diagnosis, Genomic medicine, South Africa, South Africa (SA), Paediatrics, International Centre for Genomic Medicine in Neuromuscular Disease (ICGNMD), SDG-03: Good health and well-being

وصف الملف: application/pdf

Relation: 2296-2360 (online); http://hdl.handle.net/2263/91296

الاتاحة: http://hdl.handle.net/2263/91296
https://doi.org/10.3389/fped.2022.1033299

المؤلفون: Müller-Nedebock, Amica C., Pfaff, Abigail L., Pienaar, Ilse S., Kõks, Sulev, van der Westhuizen, Francois H., Elson, Joanna L., Bardien, Soraya

المساهمون: South African Medical Research Council, Harry Crossley Foundation

المصدر: Frontiers in Aging Neuroscience ; volume 14 ; ISSN 1663-4365

الاتاحة: http://dx.doi.org/10.3389/fnagi.2022.921412
https://www.frontiersin.org/articles/10.3389/fnagi.2022.921412/full

المؤلفون: Baynam, Gareth, Julkowska, Daria, Bowdin, Sarah, Hermes, Azure, McMaster, Christopher R., Prichep, Elissa, Richer, Etienne, Van der Westhuizen, Francois H., Repetto, Gabriela M., Malherbe, Helen L., Reichardt, Juergen K.V., Arbour, Laura, Hudson, Maui, Du Plessis, Kelly, Haendel, Melissa, Wilcox, Phillip, Lynch, Sally Ann, Rind, Shamir, Easteal, Simon, Estivill, Xavier, Caron, Nadine, Chongo, Meck, Thomas, Yarlalu, Letinturier, Mary Catherine V., Vorster, Barend Christiaan

مصطلحات موضوعية: Genetic services, Genetics research, Indigenous people, Healthcare, Rare diseases, Genetic diseases, SDG-03: Good health and well-being, Indigenous rare diseases, Health inequity, SDG-10: Reduced inequalities

وصف الملف: application/pdf

Relation: Baynam, G., Julkowska, D., Bowdin, S. et al. Advancing diagnosis and research for rare genetic diseases in Indigenous peoples. Nature Genetics 56, 189–193 (2024). https://doi.org/10.1038/s41588-023-01642-1.; 1061-4036 (print); 1546-1718 (online); http://hdl.handle.net/2263/96770

الاتاحة: http://hdl.handle.net/2263/96770
https://doi.org/10.1038/s41588-023-01642-1

المؤلفون: Williams, Monray E., Naudé, Petrus J. W., van der Westhuizen, Francois H.

المصدر: Journal of Neurochemistry ; volume 157, issue 3, page 429-449 ; ISSN 0022-3042 1471-4159

الاتاحة: http://dx.doi.org/10.1111/jnc.15295
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jnc.15295
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/jnc.15295

المؤلفون: Terburgh, Karin, Coetzer, Janeé, Lindeque, Jeremy Z., van der Westhuizen, Francois H., Louw, Roan

المساهمون: National Research Foundation

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ; volume 1867, issue 5, page 166082 ; ISSN 0925-4439

الاتاحة: http://dx.doi.org/10.1016/j.bbadis.2021.166082
https://api.elsevier.com/content/article/PII:S0925443921000156?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0925443921000156?httpAccept=text/plain

المؤلفون: Abrahams, Shameemah, Miller, Hayley C., Lombard, Carl, van der Westhuizen, Francois H., Bardien, Soraya

المصدر: Biochemistry and Biophysics Reports ; volume 27, page 101035 ; ISSN 2405-5808

الاتاحة: http://dx.doi.org/10.1016/j.bbrep.2021.101035
https://api.elsevier.com/content/article/PII:S2405580821001291?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2405580821001291?httpAccept=text/plain

المؤلفون: D’Angelo, Carla S., Hermes, Azure, McMaster, Christopher M., Prichep, Elissa, Richer, Étienne, van der Westhuizen, Francois H., Repetto, Gabriela M., Mengchun, Gong, Malherbe, Helen, Reichardt, Juergen K.V., Arbour, Laura, Hudson, Maui, du Plessis, Kelly, Haendel, Melissa, Wilcox, Phillip, Lynch, Sally Ann, Rind, Shamir, Easteal, Simon, Estivill, Xavier, Thomas, Yarlalu, Baynam, Gareth

وصف الملف: application/pdf

Relation: https://doi.org/10.3389/fped.2020.579924; https://researchonline.jcu.edu.au/67080/; https://researchonline.jcu.edu.au/67080/1/67080.pdf; D’Angelo, Carla S., Hermes, Azure, McMaster, Christopher M., Prichep, Elissa, Richer, Étienne, van der Westhuizen, Francois H., Repetto, Gabriela M., Mengchun, Gong, Malherbe, Helen, Reichardt, Juergen K.V., Arbour, Laura, Hudson, Maui, du Plessis, Kelly, Haendel, Melissa, Wilcox, Phillip, Lynch, Sally Ann, Rind, Shamir, Easteal, Simon, Estivill, Xavier, Thomas, Yarlalu, and Baynam, Gareth (2020) Barriers and considerations for diagnosing rare diseases in Indigenous populations. Frontiers in Pediatrics, 8. 579924.

الاتاحة: https://researchonline.jcu.edu.au/67080/1/67080.pdf

المؤلفون: Stathopoulos, Sofia, Gaujoux, Renaud, Lindeque, Zander, Mahony, Caitlyn, Van Der Colff, Rachelle, Van Der Westhuizen, Francois, O'Ryan, Colleen

المساهمون: South African Medical Research Council, National Research Foundation

المصدر: Autism Research ; volume 13, issue 7, page 1079-1093 ; ISSN 1939-3792 1939-3806

الاتاحة: http://dx.doi.org/10.1002/aur.2310
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Faur.2310
https://onlinelibrary.wiley.com/doi/pdf/10.1002/aur.2310
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/aur.2310

المؤلفون: D'Angelo, Carla S., Hermes, Azure, McMaster, Christopher R., Prichep, Elissa, Richer, Étienne, van der Westhuizen, Francois H., Repetto, Gabriela M., Mengchun, Gong, Malherbe, Helen, Reichardt, Juergen K. V., Arbour, Laura, Hudson, Maui, du Plessis, Kelly, Haendel, Melissa, Wilcox, Phillip, Lynch, Sally Ann, Rind, Shamir, Easteal, Simon, Estivill, Xavier, Thomas, Yarlalu, Baynam, Gareth

المساهمون: European Commission

المصدر: Frontiers in Pediatrics ; volume 8 ; ISSN 2296-2360

الاتاحة: http://dx.doi.org/10.3389/fped.2020.579924
https://www.frontiersin.org/articles/10.3389/fped.2020.579924/full

المؤلفون: van der Berg, Carien L., Venter, Gerda, van der Westhuizen, Francois H., Erasmus, Elardus

المساهمون: Struwig-Germeshuysen Cancer Research (SGKN) Trust, National Research Foundation, The Cancer Association of South-Africa

المصدر: Data in Brief ; volume 29, page 105222 ; ISSN 2352-3409

الاتاحة: http://dx.doi.org/10.1016/j.dib.2020.105222
https://api.elsevier.com/content/article/PII:S2352340920301165?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352340920301165?httpAccept=text/plain

المؤلفون: Müller-Nedebock, Amica C, Brennan, Rebecca R, Venter, Marianne, Pienaar, Ilse, van der Westhuizen, Francois H, Elson, Joanna L, Ross, Owen A, Bardien, Soraya

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/84468/4/Manuscript_Muller_Nedebock_mtDNA_in_PD_resubmission.pdf; Müller-Nedebock, Amica C, Brennan, Rebecca R, Venter, Marianne, Pienaar, Ilse, van der Westhuizen, Francois H, Elson, Joanna L, Ross, Owen A and Bardien, Soraya (2019) The unresolved role of mitochondrial DNA in Parkinson’s disease: an overview of published studies, their limitations, and future prospects. Neurochemistry International. ISSN 0197-0186

الاتاحة: http://sro.sussex.ac.uk/id/eprint/84468/
http://sro.sussex.ac.uk/id/eprint/84468/4/Manuscript_Muller_Nedebock_mtDNA_in_PD_resubmission.pdf
https://doi.org/10.1016/j.neuint.2019.104495

المؤلفون: Venter, Marianne, Tomas, Cara, Pienaar, Ilse S, Strassheim, Victoria, Erasmus, Elardus, Ng, Wan-Fai, Howell, Neil, Newton, Julia L, van der Westhuizen, Francois H, Elson, Joanna L

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/81281/5/s41598-019-39060-1.pdf; http://sro.sussex.ac.uk/id/eprint/81281/3/SR_Manuscript_ME_deleterious_mtDNA_population_variants_with_Nos_MP_new_ref.pdf; Venter, Marianne, Tomas, Cara, Pienaar, Ilse S, Strassheim, Victoria, Erasmus, Elardus, Ng, Wan-Fai, Howell, Neil, Newton, Julia L, van der Westhuizen, Francois H and Elson, Joanna L (2019) MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants. Scientific Reports, 9 (2914). pp. 1-8. ISSN 2045-2322

الاتاحة: http://sro.sussex.ac.uk/id/eprint/81281/
http://sro.sussex.ac.uk/id/eprint/81281/5/s41598-019-39060-1.pdf
http://sro.sussex.ac.uk/id/eprint/81281/3/SR_Manuscript_ME_deleterious_mtDNA_population_variants_with_Nos_MP_new_ref.pdf
https://doi.org/10.1038/s41598-019-39060-1

المؤلفون: Schoonen, Maryke, Seyffert, Albertus S., Van der Westhuizen, Francois H., Smuts, Izelle

مصطلحات موضوعية: Computational tools, African cohort, Next-generation sequencing, Rare disease

Relation: http://hdl.handle.net/2263/68768; 0038-2353 (print); 1996-7489 (online)

الاتاحة: http://hdl.handle.net/2263/68768
https://doi.org/10.17159/sajs.2019/4876