المؤلفون: Kushary, S.T., Revah-Politi, A., Barua, S., Ganapathi, M., Accogli, A., Aggarwal, V., Brunetti-Pierri, N., Cappuccio, G., Capra, V., Fagerberg, C.R., Gazdagh, G., Guzman, E., Hadonou, M., Harrison, V., Havelund, K., Iancu, D., Kraus, A., Lippa, N.C., Mansukhani, M., McBrian, D., McEntagart, M., Pacio-Miguez, M., Palomares-Bralo, M., Pottinger, C., Ruivenkamp, C.A.L., Sacco, O., Santen, G.W.E., Santos-Simarro, F., Scala, M., Short, J., Sorensen, K.P., Woods, C.G., Yeboa, K.A., DDD Study, TUDP Consortium

المساهمون: Kushary, S. T., Revah-Politi, A., Barua, S., Ganapathi, M., Accogli, A., Aggarwal, V., Brunetti Pierri, N., Cappuccio, G., Capra, V., Fagerberg, C. R., Gazdagh, G., Guzman, E., Hadonou, M., Harrison, V., Havelund, K., Iancu, D., Kraus, A., Lippa, N. C., Mansukhani, M., Mcbrian, D., Mcentagart, M., Pacio-Miguez, M., Palomares-Bralo, M., Pottinger, C., Ruivenkamp, C. A. L., Sacco, O., Santen, G. W. E., Santos-Simarro, F., Scala, M., Short, J., Sorensen, K. P., Woods, C. G., Anyane Yeboa, K.

المصدر: Am J Med Genet A
American Journal of Medical Genetics Part A. WILEY
American Journal of Medical Genetics Part A
Kushary, S T, Revah-Politi, A, Barua, S, Ganapathi, M, Accogli, A, Aggarwal, V, Brunetti-Pierri, N, Cappuccio, G, Capra, V, Fagerberg, C R, Gazdagh, G, Guzman, E, Hadonou, M, Harrison, V, Havelund, K, Iancu, D, Kraus, A, Lippa, N C, Mansukhani, M, McBrian, D, McEntagart, M, Pacio-Míguez, M, Palomares-Bralo, M, Pottinger, C, Ruivenkamp, C A L, Sacco, O, Santen, G W E, Santos-Simarro, F, Scala, M, Short, J, Sørensen, K P, Woods, C G, Anyane Yeboa, K, DDD Study & TUDP Consortium 2021, ' ZTTK syndrome : Clinical and molecular findings of 15 cases and a review of the literature ', American Journal of Medical Genetics, Part A, vol. 185, no. 12, pp. 3740-3753 . https://doi.org/10.1002/ajmg.a.62445

مصطلحات موضوعية: Male, Genotype, Mutation, Missense, genotype-phenotype correlation, Article, Congenital Abnormalities, whole exome sequencing, Minor Histocompatibility Antigens, Neuroimaging, Seizures, Intellectual Disability, Intellectual disability, Exome Sequencing, Genetics, Medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Gene, Genetics (clinical), Exome sequencing, Genetic Association Studies, business.industry, Brain, genotype–phenotype correlation, medicine.disease, SON, DNA-Binding Proteins, Phenotype, Variable dysmorphic features, Female, business, multisystemic disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4593b25670ca216555ca32b4c3200bd
https://hdl.handle.net/1887/3213898

المؤلفون: Fasie Dragos, Catalina Oana, Ion Ileana, Gheorghita Raluca, Cimpineanu Bogdan

المصدر: ARS Medica Tomitana, Vol 25, Iss 2, Pp 64-68 (2019)

مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine.medical_treatment, Autosomal dominant polycystic kidney disease, adpkd, medicine.disease, Gastroenterology, General Biochemistry, Genetics and Molecular Biology, hepatorenal disease, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Internal medicine, medicine, dialysis, Medicine, 030211 gastroenterology & hepatology, Hepatic Cyst, Hemodialysis, business, multisystemic disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd31197711c30b486e2286b538016ae
https://doaj.org/article/673b1fee45724e2cac668aa3f51a05c9

المؤلفون: Anil Radhakrishnan, Isabelle Migeotte, Fransiska Malfait, Osama Essawi, Serdar Ceylaner, Pelin Ozlem Simsek-Kiper, Sofie Symoens, Tim Van Damme, Laura Muiño Mosquera, Tibbe Dhooge, Brad T. Tinkle, Adila Al Kindy, Maryse Bonduelle, Delfien Syx, Gülen Eda Utine, Sheela Nampoothiri

المساهمون: Pediatrics, Clinical sciences, Vriendenkring VUB, Reproduction and Genetics, Medical Genetics

المصدر: Human mutation

مصطلحات موضوعية: Male, Marfan syndrome, Génétique clinique, DNA Mutational Analysis, Extracellular matrix, Corneal thinning, Genotype, Medicine, Eye Abnormalities, PRDM5, Child, Genetics (clinical), 0303 health sciences, brittle cornea syndrome, 030305 genetics & heredity, Pedigree, DNA-Binding Proteins, medicine.anatomical_structure, Osteogenesis imperfecta, Child, Preschool, Female, ZNF469, medicine.symptom, Biologie, Adult, Joint Instability, medicine.medical_specialty, Adolescent, Hearing loss, Connective tissue, Biology, 03 medical and health sciences, Young Adult, Exome Sequencing, Genetics, Humans, Family, Genetic Association Studies, 030304 developmental biology, Brittle cornea syndrome, business.industry, Infant, medicine.disease, Dermatology, Ehlers–Danlos syndrome, Mutation, Skin Abnormalities, Ehlers-Danlos syndrome, business, multisystemic disorder, Transcription Factors

وصف الملف: 1 full-text file(s): application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e4a6b392e13cbe1fb0cddf830eefa09
https://doi.org/10.22541/au.160521847.70334534/v1

المؤلفون: Gilworth, G.^Aff8, Chamberlain, M.A.^Aff8, Bhakta, B.^Aff8, Tennant, A.^Aff8, Silman, A.^Aff9, Haskard, D.^Aff7

المساهمون: Back, Nathan, editor^Aff1, Cohen, Irun R., editor^Aff2, Kritchevsky, David, editor^Aff3, Lajtha, Abel, editor^Aff4, Paoletti, Rodolfo, editor^Aff5, Zouboulis, Christos C., editor^Aff6

المصدر: Adamantiades-Behçet’s Disease. 528:157-158

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المؤلفون: Beck, Michael

المصدر: Wiener Medizinische Wochenschrift. December 2010 160(23-24):625-626

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