المؤلفون: Julie C. Van De Weghe, Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller, Jennifer C. Dempsey, Mahsa Sadat Asl Mohajeri, Elizabeth van Leeuwen, Eva Pajkrt, Caroline C.W. Klaver, Henry Houlden, Atieh Eslahi, Aoife M. Waters, Michael J. Bamshad, Deborah A. Nickerson, Vimla S. Aggarwal, Bert B.A. de Vries, Reza Maroofian, Dan Doherty

المصدر: HGG Advances, Vol 2, Iss 1, Pp 100016- (2021)

مصطلحات موضوعية: TMEM218, Joubert syndrome, Meckel syndrome, ciliopathy, cilia, primary cilia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247720300166; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/cb17bef203d3435b852c3669f5b1bd38

المؤلفون: Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente

المساهمون: Serpieri, Valentina, D'Abrusco, Fulvio, C Dempsey, Jennifer, Hank Cheng, Yong-Han, Arrigoni Janice Baker, Filippo, Battini, Roberta, Silvio Bertini, Enrico, Borgatti, Renato, K Christman, Angela, Curry, Cynthia, D'Arrigo, Stefano, Fluss, Joel, Freilinger, Michael, Gana, Simone, E Ishak, Gisele, Leuzzi, Vincenzo, Loucks, Hailey, Manti, Filippo, Mendelsohn, Nancy, Merlini, Laura, V Miller, Caitlin, Muhammad, Ansar, Nuovo, Sara, Romaniello, Romina, Schmidt, Wolfgang, Signorini, Sabrina, Siliquini, Sabrina, Szczałuba, Krzysztof, Vasco, Gessica, Wilson, Meredith, Zanni, Ginevra, Boltshauser, Eugen, Doherty, Dan, Maria Valente, Enza

مصطلحات موضوعية: neonatal diseases and abnormalitie, central nervous system disease, cerebellar disease, congenital, early diagnosi, genetic variation, hereditary

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000725017900001; firstpage:1; lastpage:7; numberofpages:7; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11573/1582161; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85120304902

الاتاحة: http://hdl.handle.net/11573/1582161
https://doi.org/10.1136/jmedgenet-2021-108114

المؤلفون: Taylor L. Mighell, Andrew Nishida, Brendan L. O'Connell, Caitlin V. Miller, Sally Grindstaff, Casey A. Thornton, Andrew C. Adey, Daniel Doherty, Brian J. O'Roak

المصدر: CRISPR J

مصطلحات موضوعية: Gene Editing, Nucleotides, Genetics, DNA, CRISPR-Cas Systems, Research Articles, Biotechnology, RNA, Guide, Kinetoplastida

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5177c06b75ef9eec79a09bfae537aa72
https://pubmed.ncbi.nlm.nih.gov/35833801

المؤلفون: Valentina, Serpieri, Fulvio, D'Abrusco, Jennifer C, Dempsey, Yong-Han Hank, Cheng, Filippo, Arrigoni, Janice, Baker, Roberta, Battini, Enrico Silvio, Bertini, Renato, Borgatti, Angela K, Christman, Cynthia, Curry, Stefano, D'Arrigo, Joel, Fluss, Michael, Freilinger, Simone, Gana, Gisele E, Ishak, Vincenzo, Leuzzi, Hailey, Loucks, Filippo, Manti, Nancy, Mendelsohn, Laura, Merlini, Caitlin V, Miller, Ansar, Muhammad, Sara, Nuovo, Romina, Romaniello, Wolfgang, Schmidt, Sabrina, Signorini, Sabrina, Siliquini, Krzysztof, Szczałuba, Gessica, Vasco, Meredith, Wilson, Ginevra, Zanni, Eugen, Boltshauser, Dan, Doherty, Enza Maria, Valente, X, Zhang

المساهمون: University of Washington Center for Mendelian Genomics (UW-CMG) group, Bamshad, M.J., Leal, S.M., Nickerson, D.A., Anderson, P., Bacus, T.J., Blue, E.E., Brower, K., Buckingham, K.J., Chong, J.X., Cornejo Sánchez, D., Davis, C.P., Davis, C.J., Frazar, C.D., Gomeztagle-Burgess, K., Gordon, W.W., Horike-Pyne, M., Hurless, J.R., Jarvik, G.P., Johanson, E., Kolar, J.T., Marvin, C.T., McGee, S., McGoldrick, D.J., Mekonnen, B., Nielsen, P.M., Patterson, K., Radhakrishnan, A., Richardson, M.A., Roote, G.T., Ryke, E.L., Schrauwen, I., Shively, K.M., Smith, J.D., Tackett, M., Wang, G., Weiss, J.M., Wheeler, M.M., Yi, Q., Zhang, X.

المصدر: Journal of medical genetics, vol. 59, no. 9, pp. 888-894

مصطلحات موضوعية: Male, Proband, Pediatrics, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, Cerebellar dysplasia, cerebellar diseases, Haploinsufficiency, Abnormalities, Multiple/genetics, Cerebellar Ataxia/genetics, Cerebellum/abnormalities, Cerebellum/diagnostic imaging, Eye Abnormalities/genetics, Haploinsufficiency/genetics, Humans, Intellectual Disability/genetics, Kidney Diseases, Cystic/diagnosis, Kidney Diseases, Cystic/genetics, Phenotype, Repressor Proteins/genetics, Retina/abnormalities, and neonatal diseases and abnormalities, central nervous system diseases, congenital, early diagnosis, genetic variation, hereditary, Retina, Joubert syndrome, neonatal diseases and abnormalities, Cerebellum, Intellectual Disability, Genetics, medicine, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), business.industry, Kidney Diseases, Cystic, medicine.disease, Penetrance, Hypotonia, Repressor Proteins, Ciliopathy, medicine.symptom, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc739ec43b16294432e6c486a220ed30
http://hdl.handle.net/11573/1582161

المؤلفون: Andrew Adey, Grindstaff S, Casey A. Thornton, Taylor L. Mighell, Dan Doherty, Brian J. O'Roak, Andrew Nishida, Brendan O'Connell, Caitlin V. Miller

مصطلحات موضوعية: chemistry.chemical_classification, chemistry.chemical_compound, Dna template, Adapter (genetics), chemistry, Computer science, Scalability, Nucleotide, Computational biology, Guide RNA, Ligation, Genome, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d37c92126184095c8113f59841a9a468
https://doi.org/10.1101/2020.11.18.388876

المؤلفون: Sylvia E. C. van Beersum, Stephan C.F. Neuhauss, Jeroen van Reeuwijk, Fowzan S. Alkuraya, Mostafa Asadollahi, Julie C. Van De Weghe, Marius Ueffing, Manali Chitre, Dan Doherty, Arezou Karamzade, Caitlin V. Miller, Stef J.F. Letteboer, Tamara D.S. Rusterholz, Michael J. Bamshad, Megan E. Grout, Ruxandra Bachmann-Gagescu, Matthias Gesemann, Heba Morsy, Karsten Boldt, Ronald Roepman, John A. Sayer, Miguel Barroso-Gil, Jennifer C. Dempsey, Ranad Shaheen, Arianna Gomez, Brooke L. Latour, Mohammad Keramatipour, Deborah A. Nickerson

المساهمون: University of Zurich

المصدر: Journal of Clinical Investigation, 130, 8, pp. 4423-4439
J Clin Invest
Journal of Clinical Investigation, 130, 4423-4439

مصطلحات موضوعية: 0301 basic medicine, 10039 Institute of Medical Genetics, Hindbrain, Joubert syndrome, Retina, 03 medical and health sciences, 0302 clinical medicine, Microtubule, Cerebellum, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Polyglutamylation, Zebrafish, Armadillo Domain Proteins, biology, Cilium, Acetylation, General Medicine, Kidney Diseases, Cystic, Zebrafish Proteins, medicine.disease, biology.organism_classification, 10124 Institute of Molecular Life Sciences, Cell biology, Ciliopathy, Disease Models, Animal, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030220 oncology & carcinogenesis, Armadillo repeats, 570 Life sciences, CRISPR-Cas Systems, Peptides, Research Article

وصف الملف: application/pdf; 131656.1-20200519151036_Dysfunction.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa7189d0e48e47effe94af8b9a01c7cf

المؤلفون: Marius Ueffing, Arianna Gomez, Ranad Shaheen, Karsten Boldt, Matthias Gesemann, Stephan C.F. Neuhauss, Ronald Roepman, Tamara D.S. Rusterholz, Julie C. Van De Weghe, Deborah A. Nickerson, Brooke L. Latour, Stef J.F. Letteboer, Fowzan S. Alkuraya, Sylvia E. C. van Beersum, Heba Morsy, Jennifer C. Dempsey, Ruxandra Bachmann-Gagescu, Caitlin V. Miller, Michael J. Bamshad, Megan E. Grout, Jeroen van Reeuwijk, Dan Doherty

مصطلحات موضوعية: 0303 health sciences, Cilium, Hindbrain, Biology, medicine.disease, biology.organism_classification, Joubert syndrome, Cell biology, 03 medical and health sciences, Ciliopathy, 0302 clinical medicine, Organelle, medicine, CRISPR, Zebrafish, 030217 neurology & neurosurgery, Function (biology), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ff3bec0b33061a35d6e48edf26e7fe
https://doi.org/10.1101/817213