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

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); 457-462

مصطلحات 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

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

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

المؤلفون: D.P. Knoll, I. van de Werke, P. Beighton, Lodewyk J. Mienie, Engela Honey, M van Rensburg

المصدر: Clinical Dysmorphology. 12:95-99

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Contiguous gene syndrome, Biochemical phenotype, Pathology and Forensic Medicine, Glutarates, medicine, Humans, Genetics (clinical), Multiple enchondromata, Leg, Lumbar Vertebrae, business.industry, Brain, Infant, Enchondromatosis, General Medicine, medicine.disease, Magnetic Resonance Imaging, Radiography, Scapula, Dysplasia, Pediatrics, Perinatology and Child Health, Arm, D-2-hydroxyglutaric aciduria, Anatomy, business, Dysplastic vertebral bodies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::072af4bdd76833b89cbd372f3b6b9dd1Test
https://doi.org/10.1097/00019605-200304000-00004Test

المؤلفون: Murray Feingold, Ivan F M Lo, Francesco Brancati, Kate Pope, Beate Albrecht, Chong Ae Kim, Stephanie Moortgat, Katerina Harwood, Greta Gillies, Anne Slavotinek, Verónica Mericq, Jane A. Hurst, Didier Lacombe, Estevan Luiz da Silveira, Meghan Connolly, Judith Allanson, Ernie M.H.F. Bongers, Marleen Simon, Susan M. White, Paolo Balestri, Usha Kini, Anne Destree, Han G. Brunner, Alexandra Afenjar, James D. Weisfeld-Adams, Sarina G. Kant, Bert B.A. de Vries, Francesca Forzano, Neeti Ghali, Alessandra Renieri, Nine V A M Knoers, Claire M Jacob, Kym M. Boycott, Andrew Dauber, Joaquim Sá, Ineke van der Burgt, Jennifer Ibrahim, Dagmar Wierczorek, Chung Lee, Sanne Traasdahl Møller, Jeroen Schoots, Delphine Héron, Francesca Mari, Jukka S. Moilanen, Małgorzata J.M. Nowaczyk, Dennis E. Bulman, Oana Caluseriu, Connie Fung On Yee, Tawfeg Ben-Omran, Louisa A Delaney, Sonja A. de Munnik, Isabel Cordeiro, Margo L. Whiteford, Alexander Hoischen, Luiza Silveira Lucas, Bruna Santos da Cunha, Chandree L. Beaulieu, Rebecca L. Hood, Yvonne M C Hendriks, David R. FitzPatrick, Susan Price, Engela Honey, Edwin P. Kirk, Sarah M. Nikkel, Jan M. Wit, Daniela T. Pilz, I. Karen Temple, Lies H. Hoefsloot

المساهمون: Clinical Genetics, Research & Education, Human genetics, Other Research

المصدر: Orphanet Journal of Rare Diseases, 8. BioMed Central Ltd.
Orphanet journal of rare diseases, 8:63. BMC
Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; et al.(2013). The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases, 8(1), 63. doi: http://dx.doi.org/10.1186/1750-1172-8-63Test. Retrieved from: http://www.escholarship.org/uc/item/6r91w5r2Test
Orphanet Journal of Rare Diseases
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J M, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destree, A, FitzPatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M C, Heron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V A M, Lacombe, D, Lee, C, Lo, I F M, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Moller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, de Sa, J, Schoots, J, Silveira, E L, Simon, M E H, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B A, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F O, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet Journal of Rare Diseases, vol. 8, 63 . https://doi.org/10.1186/1750-1172-8-63Test
Orphanet Journal of Rare Diseases, 8:63. BioMed Central
Orphanet Journal of Rare Diseases, 8
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destrée, A, Fitzpatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M, Héron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V, Lacombe, D, Lee, C, Lo, I F, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Møller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, Sá, J, Schoots, J, Silveira, E L, Simon, M E, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of floating-harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet journal of rare diseases, vol. 8, no. 1, pp. 63 . https://doi.org/10.1186/1750-1172-8-63Test

مصطلحات موضوعية: Heart Septal Defects, Ventricular, Male, Pediatrics, Craniofacial abnormality, Medizin, medicine.disease_cause, Ventricular/genetics, Craniofacial Abnormalities, Exon, Floating Harbor syndrome, Phenotype, Short stature, SRCAP, Abnormalities, Multiple, Adenosine Triphosphatases, Adolescent, Adult, Child, Child, Preschool, Exons, Female, Growth Disorders, Humans, Middle Aged, Mutation, Young Adult, 0302 clinical medicine, Abnormalities, Multiple/genetics, Exons/genetics, Medicine, Genetics(clinical), Pharmacology (medical), Young adult, Genetics (clinical), Medicine(all), Genetics, 0303 health sciences, Adenosine Triphosphatases/genetics, General Medicine, Multiple/genetics, medicine.symptom, Abnormalities, Multiple, medicine.medical_specialty, Craniofacial Abnormalities/genetics, Heart Septal Defects, Ventricular/genetics, 03 medical and health sciences, Preschool, 030304 developmental biology, business.industry, Research, Heart Septal Defects, Ventricular, Growth Disorders/genetics, medicine.disease, Human genetics, Floating–Harbor syndrome, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8020c2947f5f65e481e8e6f61976743bTest
https://research.rug.nl/en/publications/1c6f03b4-d419-4e98-a16e-4ec7fceeaa41Test

المؤلفون: Clara-Maria Schutte, Engela Honey, Cecelia M Dorfling, Riaan van Coller, Elizabeth J. van Rensburg

المصدر: South African Medical Journal. 105:540

مصطلحات موضوعية: Proband, medicine.medical_specialty, business.industry, General Medicine, medicine.disease, Oculopharyngeal muscular dystrophy, Exon, Peripheral neuropathy, Ptosis, Internal medicine, medicine, Physical therapy, Outpatient clinic, medicine.symptom, Trinucleotide repeat expansion, business, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::187508d2f302feb9d7c2c41a0bb1d06eTest
https://doi.org/10.7196/samjnew.7880Test

المؤلفون: H.J.S. van den Berg, S.M. du Plessis, Engela Honey, K-W. Butow

المصدر: Curationis, Vol 32, Iss 2, Pp 53-58 (2009)

مصطلحات موضوعية: lcsh:RT1-120, education.field_of_study, lcsh:Nursing, Soft palate, business.industry, Facial cleft, Population, Dentistry, Retrospective cohort study, General Medicine, medicine.disease, medicine.anatomical_structure, Holoprosencephaly, Genetic variation, medicine, Deformity, medicine.symptom, business, education, Foot (unit)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e29fb7a23b433422a57b7a52b35b4d9Test
https://doi.org/10.4102/curationis.v32i2.938Test