المؤلفون: Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krause

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: Neurofibramotosis type 1, single nucleotide variant (SNV), copy number variants (CNV), next generating sequencing, MLPA (multiplex ligation-dependent probe amplification), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1331278/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/829aa2fc37e1447ea60602e3bd4756b6Test

المؤلفون: Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krause

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, Neurofibramotosis type 1, single nucleotide variant (SNV), copy number variants (CNV), next generating sequencing, MLPA (multiplex ligation-dependent probe amplification)

العلاقة: https://figshare.com/articles/dataset/Table1_Mutation_analysis_and_clinical_profile_of_South_African_patients_with_Neurofibromatosis_type_1_NF1_phenotype_docx/25478098Test

الإتاحة: https://doi.org/10.3389/fgene.2024.1331278.s001Test
https://figshare.com/articles/dataset/Table1_Mutation_analysis_and_clinical_profile_of_South_African_patients_with_Neurofibromatosis_type_1_NF1_phenotype_docx/25478098Test

المؤلفون: Tahir S Pillay, Tumelo M. Satekge, Engela Honey, Marli Dercksen, Boitumelo Pitso

المصدر: Clinical Chemistry. 67:564-566

مصطلحات موضوعية: Heart Defects, Congenital, Male, business.industry, Biochemistry (medical), Clinical Biochemistry, Infant, Iduronate-2-sulfatase, Hunter syndrome, medicine.disease, Glycosaminoglycan, Inborn error of metabolism, Mutation, Immunology, Lysosomal storage disease, medicine, Humans, Mucopolysaccharidosis type II, business, Novel mutation, Gene, Glycoproteins, Mucopolysaccharidosis II

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1485675080a64d86f6313bf9cf169ae5Test
https://doi.org/10.1093/clinchem/hvaa334Test

المؤلفون: Lize Schoeman, Engela Honey, Helen Malherbe, Vinet Coetzee, Daniel N. Wilke

مصطلحات موضوعية: Genetics not elsewhere classified, Facial analysis, Facial diagnostics, Facial images, Patient perspectives, Congenital disorders, Children

العلاقة: https://figshare.com/articles/dataset/Parental_perspectives_on_the_use_of_children_s_facial_images_and_performance_evaluation_of_facial_analysis_technologies/21378360Test

الإتاحة: https://doi.org/10.25403/upresearchdata.21378360.v1Test
https://figshare.com/articles/dataset/Parental_perspectives_on_the_use_of_children_s_facial_images_and_performance_evaluation_of_facial_analysis_technologies/21378360Test

المؤلفون: Anri Human, Brenda M. Morrow, Engela Honey

المصدر: International Journal of Therapy and Rehabilitation. 26:1-19

مصطلحات موضوعية: Health related quality of life, medicine.medical_specialty, business.industry, Rehabilitation, Inspiratory muscle training, Physical Therapy, Sports Therapy and Rehabilitation, Spinal muscular atrophy, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, 030228 respiratory system, Respiratory muscle, medicine, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b156815e3074881f84150adf8170fb43Test
https://doi.org/10.12968/ijtr.2017.0108Test

المؤلفون: Carlos Ferreira, Tommy Hu, Monisha S. Kisling, Holly Dubbs, Vorasuk Shotelersuk, Lynne M. Bird, Danilo Moretti-Ferreira, Kisha D. Johnson, Kate Clarkson, Paul W.K. Wong, Carol A. Crowe, André Mégarbané, Paul Kruszka, Shubha R. Phadke, Ambroise Wonkam, Victoria Mok Siu, Nirmala D. Sirisena, David B. Everman, Ian D. Krantz, Marie T. McDonald, Elizabeth Roeder, Eyby Leon, Usha Pinakin Dave, E.V. Badoe, Antonie D. Kline, Katta M. Girisha, Leah Dowsett, Maximilian Muenke, Fuki M. Hisama, Kwame Anyane-Yeoba, Antonio R. Porras, Cedrik Tekendo-Ngongang, Meow-Keong Thong, Naoki Hamajima, Pranoot Tanpaiboon, Annette Uwineza, Brandon Davis, Sarah E. Raible, Shalini S. Nayak, Maninder Kaur, Vajira H. W. Dissanayake, Leticia Cassimiro Batista, Jessica Worthington, Matthew A. Deardorff, Eloise J. Prijoles, Virginia Kimonis, Louanne Hudgins, Anju Shukla, Roger E. Stevenson, Karen Fieggen, Greta Gillies, Laird G. Jackson, Leon Mutesa, Engela Honey, Zornitza Stark, Ann Ades, Sulgana Saitta, Robin D. Clark, Marius George Linguraru, Marshall L. Summar, Laurie A. Demmer, Diane Masser-Frye, Patrick Willems, Emanuela Salzano, Stavit A. Shalev

المصدر: American Journal of Medical Genetics Part A. 179:150-158

مصطلحات موضوعية: Adult, Male, Hypertrichosis, Microcephaly, medicine.medical_specialty, Cornelia de Lange Syndrome, Adolescent, Chromosomal Proteins, Non-Histone, Cell Cycle Proteins, Article, Young Adult, De Lange Syndrome, Intellectual Disability, Intellectual disability, Image Processing, Computer-Assisted, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), business.industry, Racial Groups, Infant, Newborn, Long philtrum, Infant, NIPBL, medicine.disease, Dermatology, Phenotype, medicine.anatomical_structure, Chondroitin Sulfate Proteoglycans, Child, Preschool, Face, Mutation, Anteverted nares, Upper limb, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccbf12bd40a1dec434611422057ad4dTest
https://doi.org/10.1002/ajmg.a.61033Test

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

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.38672Test

مصطلحات 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

المؤلفون: Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary T. K. Mok, Cedrik Tekendo‐Ngongang, Karen Fieggen, Eloise J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho‐Ming Luk, Ivan F. M. Lo, Meow‐Keong Thong, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. Sampath Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni‐Chung Lee, Saumya S. Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen‐Min, Neerja Gupta, Stephanie Lotz‐Esquivel, Ramsés Badilla‐Porras, Dalia Farouk Hussen, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregon, Brian H. Y. Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca Barriga, Andre Megarbane, Beth A. Kozel, Mieke M. van Haelst, Roger E. Stevenson, Marshall Summar, A. Adebowale Adeyemo, Colleen A. Morris, Danilo Moretti‐Ferreira, Marius George Linguraru, Maximilian Muenke

المصدر: American Journal of Medical Genetics Part A. 176

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::43bbb5f0050d2becfabcb815327fe270Test
https://doi.org/10.1002/ajmg.a.38714Test

المؤلفون: Jodi D. Hoffman, Kelly Kennelly, Linda Kleeman, Engela Honey, William Reardon

المصدر: Clinical Dysmorphology. 24:128-131

مصطلحات موضوعية: Male, Gynecology, Abortion, Habitual, medicine.medical_specialty, Pregnancy, business.industry, Obstetrics, MEDLINE, Hypercoiled Umbilical Cord, General Medicine, Abortion, medicine.disease, Umbilical Cord, Pathology and Forensic Medicine, Sex Factors, Sex factors, Pediatrics, Perinatology and Child Health, Recurrent miscarriage, medicine, Humans, Female, Anatomy, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5dcb0fcbc02f85492c09d65e874fe73Test
https://doi.org/10.1097/mcd.0000000000000084Test