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1دورية أكاديمية
المؤلفون: Edmond Wonkam‐Tingang, Séraphin Nguefack, Alina I. Esterhuizen, David Chelo, Ambroise Wonkam
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
مصطلحات موضوعية: Africa, Cameroon, clinical patterns, Duchenne muscular dystrophy, genetics, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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2دورية أكاديمية
المؤلفون: Alina I. Esterhuizen, Gemma L. Carvill, Rajkumar S. Ramesar, Symon M. Kariuki, Charles R. Newton, Annapurna Poduri, Jo M. Wilmshurst
المصدر: Frontiers in Neurology, Vol 9 (2018)
مصطلحات موضوعية: low- to middle-income countries, genetic testing, seizures, sub-Saharan Africa, genetic epilepsy, early-life epilepsy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://journal.frontiersin.org/article/10.3389/fneur.2018.00276/fullTest; https://doaj.org/toc/1664-2295Test
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المؤلفون: Alina I. Esterhuizen, Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J. Burman, Miriam C. Aziz, Jeffrey D. Calhoun, Jonathan Gunti, Ezra E. Amiri, Aishwarya Ramamurthy, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Raj Ramesar, Jo M. Wilmshurst, Gemma L. Carvill
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d46e656eb9de4a9dc9bad87081f2cda4Test
https://doi.org/10.1101/2022.08.17.22278768Test -
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المؤلفون: Alina I. Esterhuizen, Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J. Burman, Miriam C. Aziz, Jeffrey D. Calhoun, Jonathan Gunti, Ezra E. Amiri, Aishwarya Ramamurthy, Michael J. Bamshad, Heather C. Mefford, Raj Ramesar, Jo M. Wilmshurst, Gemma L. Carvill, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Tamara J. Bacus, Elizabeth E. Blue, Katherine Brower, Kati J. Buckingham, Jessica X. Chong, Diana Cornejo Sánchez, Colleen P. Davis, Chayna J. Davis, Christian D. Frazar, Katherine Gomeztagle-Burgess, William W. Gordon, Martha Horike-Pyne, Jameson R. Hurless, Gail P. Jarvik, Eric Johanson, J. Thomas Kolar, Colby T. Marvin, Sean McGee, Daniel J. McGoldrick, Betselote Mekonnen, Patrick M. Nielsen, Karynne Patterson, Aparna Radhakrishnan, Matthew A. Richardson, Gwendolin T. Roote, Erica L. Ryke, Isabelle Schrauwen, Kathryn M. Shively, Joshua D. Smith, Monica Tackett, Gao Wang, Jeffrey M. Weiss, Marsha M. Wheeler, Qian Yi, Xiaohong Zhang
المصدر: Genetics in Medicine. 25:100333
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc71570631a3fb0fd9ec5c81f1fc114fTest
https://doi.org/10.1016/j.gim.2022.11.002Test -
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المؤلفون: Kebashni Thandrayen, Alvera Vorster, Gameda Benefeld, Safiye Yildiz, Raj Ramesar, Jorge da Rocha, George Rebello, Alina I. Esterhuizen, Stephanie Julius, Peter Beighton, Lisa Roberts, John M. Pettifor, S. L. Sellars, Shrinav Dawlat, Komala Pillay, Surita Meldau
المصدر: Human Mutation. 41:1871-1876
مصطلحات موضوعية: Male, Hearing loss, Hearing Loss, Sensorineural, Population, Cell Cycle Proteins, Biology, South Africa, 03 medical and health sciences, Ribonucleotide Reductases, Exome Sequencing, Genetics, medicine, Rod-cone dystrophy, Humans, education, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, education.field_of_study, 030305 genetics & heredity, Haplotype, Dystrophy, medicine.disease, Founder Effect, Pedigree, Haplotypes, Female, Kidney Diseases, Sensorineural hearing loss, sense organs, medicine.symptom, Cone-Rod Dystrophies, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b61bc758576c1c1c2f18ebf8371572f3Test
https://doi.org/10.1002/humu.24094Test -
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المؤلفون: Jeannine M. Heckmann, Melissa Nel, Gloudi Agenbag, Franclo Henning, Helen M Cross, Alina I. Esterhuizen
المصدر: J Neurol Sci
مصطلحات موضوعية: Male, Genetic genealogy, Black People, Biology, Article, White People, Cohort Studies, South Africa, 03 medical and health sciences, 0302 clinical medicine, Asian People, C9orf72, medicine, Humans, 030212 general & internal medicine, Allele, Amyotrophic lateral sclerosis, Family history, Aged, Genetics, DNA Repeat Expansion, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, White (mutation), Neurology, Cohort, Female, Neurology (clinical), Trinucleotide repeat expansion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7b75c8171e54f1595fb18e835551efTest
https://doi.org/10.1016/j.jns.2019.04.026Test -
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المؤلفون: Gemma L. Carvill, Rajkumar Ramesar, Jo M. Wilmshurst, Caitlin McIntosh, Karen Fieggen, Alina I. Esterhuizen
المصدر: SAMJ: South African Medical Journal, Volume: 111, Issue: 1, Pages: 8-9, Published: JAN 2021
South African Medical Journal; Vol. 111 No. 1 (2021); 8-9مصطلحات موضوعية: Epilepsy, medicine.diagnostic_test, business.industry, MEDLINE, General Medicine, Bioinformatics, Precision medicine, Genetic epilepsy, Translational Research, Biomedical, Medicine, Humans, Genetic Testing, Genetic diagnosis, business, Africa South of the Sahara, Early onset, Genetic testing
وصف الملف: text/html; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7f521958e83c847f488b7a048c52cf1Test
http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742021000100005&lng=en&tlng=enTest -
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المؤلفون: Ambroise Wonkam, David Chelo, Séraphin Nguefack, Edmond Wonkam-Tingang, Alina I. Esterhuizen
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Male, Duchenne muscular dystrophy, medicine.medical_specialty, Proximal muscle weakness, lcsh:QH426-470, Adolescent, Disease, 030105 genetics & heredity, Dystrophin, 03 medical and health sciences, Exon, Young Adult, Gene Frequency, Internal medicine, medicine, Humans, genetics, Cameroon, Genetic Testing, Muscular dystrophy, Child, Molecular Biology, Wasting, Genetics (clinical), business.industry, Original Articles, medicine.disease, 3. Good health, Muscular Dystrophy, Duchenne, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, Phenotype, Africa, Shoulder girdle, Female, Original Article, Ankle, medicine.symptom, business, clinical patterns
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4db95eabdb6f033da0b823de46c07852Test
https://pubmed.ncbi.nlm.nih.gov/32543101Test -
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المؤلفون: Jo M. Wilmshurst, Shuyu Wang, Heather C Mefford, Alina I. Esterhuizen, Rajkumar Ramesar, Gemma L. Carvill
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Epilepsies, Myoclonic, Disease, Severity of Illness Index, Article, Cohort Studies, 03 medical and health sciences, Epilepsy, South Africa, 0302 clinical medicine, Dravet syndrome, 030225 pediatrics, medicine, Humans, Genetic Testing, Genetic testing, Framingham Risk Score, medicine.diagnostic_test, business.industry, Incidence (epidemiology), Infant, Electroencephalography, General Medicine, Precision medicine, medicine.disease, Cadherins, Genetic architecture, Protocadherins, NAV1.1 Voltage-Gated Sodium Channel, Early Diagnosis, Neurology, Child, Preschool, Mutation, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::475746ebf20297d006ca970f5471bdc2Test
https://europepmc.org/articles/PMC6261486Test/ -
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المؤلفون: Charles R. Newton, Symon M. Kariuki, Gemma L. Carvill, Jo M. Wilmshurst, Annapurna Poduri, Rajkumar Ramesar, Alina I. Esterhuizen
المصدر: Frontiers in Neurology
Frontiers in Neurology, Vol 9 (2018)مصطلحات موضوعية: 0301 basic medicine, sub-Saharan Africa, Traumatic brain injury, lcsh:RC346-429, genetic testing, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Quality of life (healthcare), Medicine, early-life epilepsy, lcsh:Neurology. Diseases of the nervous system, Genetic testing, seizures, Genetics, medicine.diagnostic_test, business.industry, medicine.disease, 3. Good health, 030104 developmental biology, Direct Treatment, Increased risk, Neurology, low- to middle-income countries, Perspective, Etiology, High incidence, Neurology (clinical), genetic epilepsy, business, 030217 neurology & neurosurgery, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::861f8fc69ef5e9d21b33290f73323b71Test
http://europepmc.org/articles/PMC5940732Test