-
1
المؤلفون: Tomas Slavik, Justyna A. Karolak, Pawel Stankiewicz, Edwina J. Popek, Engela Honey, Tomasz Gambin
المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-8 (2020)مصطلحات موضوعية: 0301 basic medicine, lcsh:Internal medicine, lcsh:QH426-470, Hypertension, Pulmonary, Case Report, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, T-box transcription factor 4, 03 medical and health sciences, Pulmonary hypoplasia, Fatal Outcome, Exome Sequencing, Genetics, medicine, Humans, lcsh:RC31-1245, Lung, Genetics (clinical), Exome sequencing, Whole genome sequencing, Infant, Newborn, Multi-locus genomic variations, medicine.disease, Phenotype, Pulmonary hypertension, Human genetics, 3. Good health, Dual molecular diagnosis, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, Female, Chromosome Deletion, Comparative genomic hybridization, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::303ce82cb2f8e9bc2d5a2f03a598e1e6Test
http://europepmc.org/articles/PMC7060516Test -
2
المؤلفون: Antonio R. Porras, Meow-Keong Thong, Katta M. Girisha, Miguel Chávez Pastor, Angélica Moresco, Premala Muthukumarasamy, María Gabriela Obregon, Ee Shien Tan, Gary T. K. Mok, Maximilian Muenke, Engela Honey, Cedrik Tekendo-Ngongang, Alec P. Boyle, E.V. Badoe, Laila Bouguenouch, Colleen A. Morris, Rupesh Mishra, Angeline Lai, Bertha Elena Gallardo Jugo, Adebowale Adeyemo, Deise Helena de Souza, Saumya Shekhar Jamuar, María Beatriz de Herreros, Karim Ouldim, Beth A. Kozel, Ashleigh D. Gill, Danilo Moretti-Ferreira, Mieke M. van Haelst, Ivan F M Lo, Vajira H. W. Dissanayake, Pranoot Tanpaiboon, Carlos Ferreira, Nirmala D. Sirisena, Leah Dowsett, Marshall L. Summar, Tommy Hu, Hugo Hernán Abarca Barriga, Dalia Farouk Hussen, Monisha S. Kisling, Milana Trubnykova, Ni-Chung Lee, Victoria Huckstadt, Marius George Linguraru, A. Micheil Innes, Eloise J. Prijoles, Vorasuk Shotelersuk, Khadija Belhassan, Brian H.Y. Chung, Jiin Ying Lim, Paul Kruszka, Anju Shukla, Ramses Badilla-Porras, Roger E. Stevenson, Siddaramappa J. Patil, Yonit A. Addissie, C. Sampath Paththinige, Ambroise Wonkam, Ihssane El Bouchikhi, Engy A. Ashaat, Mona O. El Ruby, Stephanie Lotz-Esquivel, André Mégarbané, Jorge La Serna, Cham Breana Wen-Min, HM Luk, Karen Fieggen, Alison Eaton, Neerja Gupta, Kelly L. Jones
المساهمون: Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human genetics
المصدر: American Journal of Medical Genetics Part A, 176(5), 1128-1136. Wiley-Liss Inc.
Kruszka, P, Porras, A R, de Souza, D H, Moresco, A, Huckstadt, V, Gill, A D, Boyle, A P, Hu, T, Addissie, Y A, Mok, G T K, Tekendo-Ngongang, C, Fieggen, K, Prijoles, E J, Tanpaiboon, P, Honey, E, Luk, H-M, Lo, I F M, Thong, M-K, Muthukumarasamy, P, Jones, K L, Belhassan, K, Ouldim, K, El Bouchikhi, I, Bouguenouch, L, Shukla, A, Girisha, K M, Sirisena, N D, Dissanayake, V H W, Paththinige, C S, Mishra, R, Kisling, M S, Ferreira, C R, de Herreros, M B, Lee, N-C, Jamuar, S S, Lai, A, Tan, E S, Ying Lim, J, Wen-Min, C B, Gupta, N, Lotz-Esquivel, S, Badilla-Porras, R, Hussen, D F, El Ruby, M O, Ashaat, E A, Patil, S J, Dowsett, L, Eaton, A, Innes, A M, Shotelersuk, V, Badoe, Ë, Wonkam, A, Obregon, M G, Chung, B H Y, Trubnykova, M, La Serna, J, Gallardo Jugo, B E, Chávez Pastor, M, Abarca Barriga, H H, Megarbane, A, Kozel, B A, van Haelst, M M, Stevenson, R E, Summar, M, Adeyemo, A A, Morris, C A, Moretti-Ferreira, D, Linguraru, M G & Muenke, M 2018, ' Williams-Beuren syndrome in diverse populations ', American Journal of Medical Genetics Part A, vol. 176, no. 5, pp. 1128-1136 . https://doi.org/10.1002/ajmg.a.38672Testمصطلحات موضوعية: Williams Syndrome, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Population, Ethnic group, 030105 genetics & heredity, Sensitivity and Specificity, Article, Genetic Heterogeneity, 03 medical and health sciences, Population Groups, Intellectual disability, Genetics, medicine, Humans, cardiovascular diseases, education, Genetics (clinical), education.field_of_study, Anthropometry, Genetic heterogeneity, business.industry, Facies, Reproducibility of Results, Microdeletion syndrome, medicine.disease, Phenotype, Biological Variation, Population, Cohort, Williams syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e32d4933dafcf00d120fc6f768507dadTest
https://doi.org/10.1002/ajmg.a.38672Test -
3
المؤلفون: Roan Louw, Engela Honey, Marli Dercksen, Maryke Schoonen, Francois H. van der Westhuizen, Lindi-Maryn Jonck, Izelle Smuts
المصدر: Journal of the neurological sciences. 384
مصطلحات موضوعية: 0301 basic medicine, Iron-Sulfur Proteins, Male, Electron-Transferring Flavoproteins, Population, Disease, Neonatal onset, Compound heterozygosity, medicine.disease_cause, White People, 03 medical and health sciences, Exon, South Africa, Young Adult, 0302 clinical medicine, Fatal Outcome, Medicine, Humans, Family, education, Multiple Acyl-CoA Dehydrogenase Deficiency, Child, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Retrospective Studies, Genetics, Mutation, education.field_of_study, Oxidoreductases Acting on CH-NH Group Donors, business.industry, Metabolic disorder, Infant, Newborn, medicine.disease, 030104 developmental biology, Phenotype, Neurology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f92221701e20b06b6c3d16f70aff72ccTest
https://pubmed.ncbi.nlm.nih.gov/29249369Test -
4
المؤلفون: D Thompson, Denis Viljoen, Peter Beighton, Manogari Chetty, Alvera Vorster, Yasmeen Ganie, Engela Honey, Karen Fieggen, Piet Maré, Rajkumar Ramesar, B D Henderson
المصدر: SAMJ: South African Medical Journal, Volume: 107, Issue: 5, Pages: 457-462, Published: MAY 2017
South African Medical Journal, Vol 107, Iss 5, Pp 457-462 (2017)
South African Medical Journal; Vol 107, No 5 (2017); 457-462مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Population, lcsh:Medicine, 030105 genetics & heredity, Compound heterozygosity, Frameshift mutation, 03 medical and health sciences, Bruck syndrome, Genetic, medicine, education, Genetics, education.field_of_study, lcsh:R5-920, business.industry, Haplotype, lcsh:R, General Medicine, Skeletal, medicine.disease, Surgery, FKBP10, Osteogenesis imperfecta, Cohort, Mutation (genetic algorithm), Africa, business, lcsh:Medicine (General), Fractures
وصف الملف: text/html; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98186ff2db83411abb7cd653d3877cebTest
http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742017000500026&lng=en&tlng=enTest -
5
المؤلفون: Engela Honey
المصدر: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 106(6 Suppl 1)
مصطلحات موضوعية: 0301 basic medicine, Joint Instability, Unilateral renal agenesis, medicine.medical_specialty, Pathology, Nutritional Status, 030105 genetics & heredity, Kidney, Osteochondrodysplasias, Joint laxity, Congenital Abnormalities, 03 medical and health sciences, South Africa, medicine, Mutational status, Humans, Spondyloepimetaphyseal dysplasia, business.industry, Infant, Nutritional status, General Medicine, medicine.disease, Galactosyltransferases, Dermatology, Dysplasia, Child, Preschool, Mutation, Female, Kidney Diseases, Kidney abnormalities, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a313d2d5325e4e26eb96a0aafa93206Test
https://pubmed.ncbi.nlm.nih.gov/27245527Test -
6
المؤلفون: Kurt-W. Bütow, Engela Honey, H. Engelbrecht, Su Yin Htun
المصدر: JBR Journal of Interdisciplinary Medicine and Dental Science.
مصطلحات موضوعية: 0301 basic medicine, business.industry, 030206 dentistry, Anatomy, 030105 genetics & heredity, Phalanx, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Family group, Popliteal pterygium syndrome, Nail (anatomy), medicine, IRF6, Syndactyly, business, Popliteal pterygium, Hypoplastic toenails
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1d25527d0e2b93841ff40e816578db13Test
https://doi.org/10.4172/2376-032x.1000188Test -
7
المؤلفون: Engela Honey, Monique G. Zaahl, Karen Fieggen, Samuel W. Moore
المصدر: Journal of pediatric surgery. 51(2)
مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Male, Mowat–Wilson syndrome, Biology, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, Exon, 0302 clinical medicine, Intellectual Disability, medicine, Humans, Hirschsprung Disease, Child, Gene, Zinc Finger E-box Binding Homeobox 2, Genetics, Homeodomain Proteins, Mutation, Infant, Newborn, Facies, Infant, Promoter, General Medicine, medicine.disease, Repressor Proteins, 030104 developmental biology, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Microcephaly, Homeobox, Surgery, Female, Haploinsufficiency, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::021c0433e63e6a0e88fecb23b0d44e6fTest
https://pubmed.ncbi.nlm.nih.gov/26852091Test