المؤلفون: Polla, D. L., Bhoj, E. J., Verheij, J. B. G. M., Wassink-Ruiter, J. S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Vulto-van Silfhout, A. T., Pfundt, R., Bongers, E. M. H. F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S. C., Stumpel, C. T. R. M., Wennekes, R., Stegmann, A. P. A., Reardon, W., Leenders, E. K. S. M., de Vries, B. B. A., Li, D., Zackai, E., Ragge, N., Lynch, S. A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A. P. M.

المصدر: Polla , D L , Bhoj , E J , Verheij , J B G M , Wassink-Ruiter , J S K , Reis , A , Deshpande , C , Gregor , A , Hill-Karfe , K , Vulto-van Silfhout , A T , Pfundt , R , Bongers , E M H F , Hakonarson , H , Berland , S , Gradek , G , Banka , S , Chandler , K , Gompertz , L , Huffels , S C , Stumpel , C T R M , Wennekes , R , Stegmann , A ....

مصطلحات موضوعية: FG SYNDROME, MENTAL-RETARDATION, MEDIATOR COMPLEX, OHDO SYNDROME, MUTATION, BLEPHAROPHIMOSIS, GENE, TRANSCRIPTION, DELINEATION, PHENOTYPE

الإتاحة: https://doi.org/10.1038/s41436-020-01040-6Test
https://cris.maastrichtuniversity.nl/en/publications/a2d99058-119a-41c1-9bb4-9aaf9783c686Test

المؤلفون: Natario L. Couser, Monika Bapna, Hind Al-Saif, Rachel Li, Arth H. Shah

المصدر: Ophthalmic Genetics. 43:126-129

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Ocular adnexa, medicine.disease, Dermatology, MED12, Ophthalmology, Lujan–Fryns syndrome, Pediatrics, Perinatology and Child Health, Intellectual disability, Medicine, OHDO SYNDROME, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dab947562fd36499ff527f2c11eada47Test
https://doi.org/10.1080/13816810.2021.1989601Test

المؤلفون: Sehgal Renu Raina, Gupta Ashutosh, Aneja Anjila, Bahl Neena, Arora Rupam, Saini Pankaj

المصدر: Clinical Medical Reviews and Reports. 3:01-07

مصطلحات موضوعية: Psychiatry and Mental health, medicine.medical_specialty, Endocrinology, Internal medicine, medicine, OHDO SYNDROME, Biology, Phenotype

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6b71ec81eae85769098f77a9691006b9Test
https://doi.org/10.31579/2690-8794/088Test

المؤلفون: William R. Katowitz, James A. Katowitz, Daphna Prat, Brian Jonathan Nguyen, Alanna Strong

المصدر: Clinical & Experimental Ophthalmology. 49:448-453

مصطلحات موضوعية: Adult, Forkhead Box Protein L2, Male, Pediatrics, medicine.medical_specialty, Adolescent, Physical examination, Blepharophimosis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, medicine, Humans, Dubowitz syndrome, Medical history, OHDO SYNDROME, Child, Retrospective Studies, Genetic testing, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Forkhead Transcription Factors, Syndrome, medicine.disease, Pedigree, Ophthalmology, Phenotype, medicine.anatomical_structure, Child, Preschool, Mutation, 030221 ophthalmology & optometry, Female, Eyelid, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2289174867bd7a2ea1be51973f758828Test
https://doi.org/10.1111/ceo.13933Test

المؤلفون: Charu Deshpande, Joke B. G. M. Verheij, H Van Bokhoven, Siddharth Banka, J. S. Klein Wassink-Ruiter, Elizabeth J. Bhoj, S. C. Huffels, R. Pfundt, Ernie M.H.F. Bongers, Anne Gregor, A.P.M. de Brouwer, André Reis, Christiane Zweier, Hakon Hakonarson, Nicola K. Ragge, L. Gompertz, Dong Li, Sanmati Cuddapah, Alexander P.A. Stegmann, Sally Ann Lynch, A.T. Vulto-van Silfhout, Willie Reardon, Gyri Aasland Gradek, Daniel L. Polla, Kate Chandler, C. T. R. M. Stumpel, B. B. A. de Vries, R. Wennekes, Elaine H. Zackai, Siren Berland, Erika Leenders, K. Hill-Karfe

المساهمون: Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9)

المصدر: Genetics in Medicine, 23, 4, pp. 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6Test
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652

مصطلحات موضوعية: 0301 basic medicine, FG syndrome, Mutation, Missense, 030105 genetics & heredity, Biology, Short stature, MED12, 03 medical and health sciences, Exon, BLEPHAROPHIMOSIS, Genes, X-Linked, Intellectual Disability, medicine, Missense mutation, Humans, Genetics(clinical), TRANSCRIPTION, Gene, MUTATION, Genetics (clinical), Genetics, OHDO SYNDROME, Mediator Complex, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Syndrome, medicine.disease, Phenotype, Blepharophimosis, GENE, DELINEATION, FG SYNDROME, 030104 developmental biology, Neurodevelopmental Disorders, Mental Retardation, X-Linked, Female, medicine.symptom, MENTAL-RETARDATION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3096973d0dab91ba75f31747c1525309Test
https://repository.ubn.ru.nl/handle/2066/234992Test

المؤلفون: Yoshitsugu Sugio, Yumi Enomoto, Yoshinori Tsurusaki, Hiroaki Murakami, Kenji Kurosawa

المصدر: Congenital anomaliesREFERENCES. 60(3)

مصطلحات موضوعية: Heart Defects, Congenital, Embryology, Blepharophimosis, MED12, Intellectual Disability, Female patient, X-linked Ohdo syndrome, Medicine, Blepharoptosis, Humans, Abnormalities, Multiple, Genetics, Chromosomes, Human, X, Mediator Complex, business.industry, Genetic Diseases, X-Linked, General Medicine, Prognosis, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, Female, business, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a05fa8924dd051d004203ac6ce6b6daeTest
https://pubmed.ncbi.nlm.nih.gov/31322785Test

المؤلفون: Katrin Õunap, Riina Žordania, Sander Pajusalu, Olga Zilina, Tiia Reimand

المصدر: Clinical Case Reports

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Case Report, Case Reports, Short stature, 03 medical and health sciences, Flat nasal bridge, Intellectual disability, Medicine, Short philtrum, Ohdo syndrome, 3q26.33‐3q27.2 microdeletion, business.industry, 3q27.3 microdeletion, General Medicine, Anatomy, medicine.disease, Blepharophimosis, Hypotonia, blepharophimosis, 030104 developmental biology, Feeding problems, intellectual disability, Horizontal palpebral fissures, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6a1fc52a8f1e1d28f5b9ac029356f84Test
http://europepmc.org/articles/PMC4974439Test

المؤلفون: Yusuke Mitani, Hiroyasu Nakagawa, Mondo Kuroda, Ayano Yokoi, Akiko Kato, Yo Niida

المصدر: Congenital Anomalies. 57:86-88

مصطلحات موضوعية: 0301 basic medicine, Genetics, Embryology, Palindrome, General Medicine, 030105 genetics & heredity, Biology, medicine.disease, 03 medical and health sciences, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Gene duplication, medicine, Laryngomalacia, Genitopatellar syndrome, Recurrent mutation, OHDO SYNDROME, Allele, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::80859d0b3d5f8f9238761fded594ce7fTest
https://doi.org/10.1111/cga.12196Test

المساهمون: dr. Laura C. G. de Graaff-Herder, Principal investigator

المصدر: GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04463316Test

المؤلفون: Venkatraman Bhat, Katta M. Girisha, Puneeth H. Somashekar, Anju Shukla, Satish Siddaiah, Siddaramappa J. Patil, Pooja N. Rao

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, business.industry, medicine.disease, medicine.disease_cause, Blepharophimosis, MED12, 03 medical and health sciences, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Intellectual disability, medicine, X-linked Ohdo syndrome, business, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28b43d59ec442077ea1283e6ee5ebd46Test
https://europepmc.org/articles/PMC5548526Test/