المؤلفون: Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, J. rgen G., Gropman, Andrea L., Nagamani, Sandesh C. S., Druck, Ann-Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Gramer, Gwendolyn, Zeman, Jiri, Karall, Daniela, Couce, Maria L., Mühlhausen, Chris, Pedrón-Giner, Consuelo, Spiekerkoetter, Ute, Sykut-Cegielska, Jolanta

المصدر: Posset , R , Garbade , S F , Gleich , F , Scharre , S , Okun , J R G , Gropman , A L , Nagamani , S C S , Druck , A-C , Epp , F , Hoffmann , G F , Kölker , S , Zielonka , M , Mew , N A , Seminara , J , Burrage , L C , Berry , G T , Breilyn , M , Schulze , A , Harding , C O , Berry , S A , Wong , D , McCandless , S ....

العلاقة: https://research.vumc.nl/en/publications/d702feaf-b910-41a7-a4bd-a0bfa07d75a2Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.101039Test
https://research.vumc.nl/en/publications/d702feaf-b910-41a7-a4bd-a0bfa07d75a2Test
http://www.scopus.com/inward/record.url?scp=85185265325&partnerID=8YFLogxKTest

المؤلفون: Dixon, Marjorie, Millington, Chloe, Bernstein, Laurie, Coughlin, Curtis R., Drumm, Morgan, Gaughan, Sommer, van Karnebeek, Clara D. M., van Wegberg, Annemiek M. J.

المصدر: JIMD Reports ; ISSN 2192-8312 2192-8312

الإتاحة: https://doi.org/10.1002/jmd2.12418Test

المؤلفون: Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K, Chu, Catherine, Lin, Chin, Geiger, Elizabeth A, Meeks, Naomi JL, Chatfield, Kathryn C, Coughlin, Curtis R, Surti, Urvashi, Kwok, Pui-Yan, Shaikh, Tamim H

المصدر: Genetics. 217(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Chromosome Breakpoints, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 16, Craniofacial Abnormalities, Developmental Disabilities, Genomic Structural Variation, Heart Defects, Congenital, Humans, Intellectual Disability, Mental Disorders, Segmental Duplications, Genomic, Seizures, Williams Syndrome, segmental duplications, genome mapping, structural variation, genomic disorders, Developmental Biology, Biochemistry and cell biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/15562671Test

المؤلفون: Demaerel, Wolfram, Mostovoy, Yulia, Yilmaz, Feyza, Vervoort, Lisanne, Pastor, Steven, Hestand, Matthew S, Swillen, Ann, Vergaelen, Elfi, Geiger, Elizabeth A, Coughlin, Curtis R, Chow, Stephen K, McDonald-McGinn, Donna, Morrow, Bernice, Kwok, Pui-Yan, Xiao, Ming, Emanuel, Beverly S, Shaikh, Tamim H, Vermeesch, Joris R

المصدر: Genome Research. 29(9)

مصطلحات موضوعية: Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, 22q11 Deletion Syndrome, Animals, Cell Line, Chromosomal Instability, Chromosome Mapping, Chromosomes, Human, Pair 22, Evolution, Molecular, Humans, In Situ Hybridization, Fluorescence, Primates, Repetitive Sequences, Nucleic Acid, Biological Sciences, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/19t7w11cTest

المؤلفون: Coughlin, Curtis R., Gospe, Sidney M.

المصدر: Annals of the Child Neurology Society ; volume 1, issue 1, page 24-37 ; ISSN 2831-3267 2831-3267

الإتاحة: https://doi.org/10.1002/cns3.20016Test

المؤلفون: Coughlin, Curtis R., Tseng, Laura A., Bok, Levinus A., Hartmann, Hans, Footitt, Emma, Striano, Pasquale, Tabarki, Brahim M., Lunsing, Roelineke J., Stockler-Ipsiroglu, Sylvia, Gordon, Shanlea, Van Hove, Johan L.K., Abdenur, Jose E., Boyer, Monica, Longo, Nicola, Andrews, Ashley, Janssen, Mirian C.H., van Wegberg, Annemiek, Prasad, Chitra, Prasad, Asuri N., Lamb, Molly M., Wijburg, Frits A., Gospe, Sidney M., Van Karnebeek, Clara

المصدر: Coughlin , C R , Tseng , L A , Bok , L A , Hartmann , H , Footitt , E , Striano , P , Tabarki , B M , Lunsing , R J , Stockler-Ipsiroglu , S , Gordon , S , Van Hove , J L K , Abdenur , J E , Boyer , M , Longo , N , Andrews , A , Janssen , M C H , van Wegberg , A , Prasad , C , Prasad , A N , Lamb , M M , Wijburg , F A , ....

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/327cdaa4-7bb1-44f7-be66-b234bbc375e9Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000201222Test
https://hdl.handle.net/11370/327cdaa4-7bb1-44f7-be66-b234bbc375e9Test
https://research.rug.nl/en/publications/327cdaa4-7bb1-44f7-be66-b234bbc375e9Test
https://pure.rug.nl/ws/files/566505647/e2627.full.pdfTest

المؤلفون: Tseng, Laura A., Abdenur, Jose E., Andrews, Ashley, Aziz, Verena G., Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Hartmann, Hans, Footitt, Emma J., Gronborg, Sabine, Janssen, Mirian C. H., Longo, Nicola, Lunsing, Roelineke J., MacKenzie, Alex E., Wijburg, Frits A., Gospe, Sidney M., Coughlin, Curtis R., van Karnebeek, Clara D. M.

المصدر: Tseng , L A , Abdenur , J E , Andrews , A , Aziz , V G , Bok , L A , Boyer , M , Buhas , D , Hartmann , H , Footitt , E J , Gronborg , S , Janssen , M C H , Longo , N , Lunsing , R J , MacKenzie , A E , Wijburg , F A , Gospe , S M , Coughlin , C R & van Karnebeek , C D M 2022 , ' Timing of therapy and neurodevelopmental outcomes in 18 families with ....

مصطلحات موضوعية: Pyridoxine-dependent epilepsy, PDE-ALDH7A1, Lysine reduction therapies, Lysine-restricted diet, Arginine supplementation, Sibling study, Neurodevelopmental outcome, ANTIQUITIN DEFICIENCY, FEATURES, DIAGNOSIS, CHILDREN, SIBLINGS, SEIZURES, SPECTRUM, DIET

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/63d3053c-677f-4f34-a202-342e3b33b377Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2022.02.005Test
https://hdl.handle.net/11370/63d3053c-677f-4f34-a202-342e3b33b377Test
https://research.rug.nl/en/publications/63d3053c-677f-4f34-a202-342e3b33b377Test
https://pure.rug.nl/ws/files/219085923/1_s2.0_S1096719222001378_main.pdfTest

المؤلفون: Coughlin, Curtis R., Tseng, Laura A., Abdenur, Jose E., Ashmore, Catherine, Boemer, Francois, Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Clayton, Peter T., Das, Anibh, Dekker, Hanka, Evangeliou, Athanasios, Feillet, Francois, Footitt, Emma J., Gospe, Sidney M., Hartmann, Hans, Kara, Majdi, Kristensen, Erle, Lee, Joy, Lilje, Rina, Longo, Nicola, Lunsing, Roelineke J., Mills, Philippa, Papadopoulou, Maria T., Pearl, Phillip L., Piazzon, Flavia, Plecko, Barbara, Saini, Arushi G., Santra, Saikat, Sjarif, Damayanti R., Stockler-Ipsiroglu, Sylvia, Striano, Pasquale, Van Hove, Johan L. K., Verhoeven-Duif, Nanda M., Wijburg, Frits A., Zuberi, Sameer M., van Karnebeek, Clara D. M.

المصدر: Coughlin , C R , Tseng , L A , Abdenur , J E , Ashmore , C , Boemer , F , Bok , L A , Boyer , M , Buhas , D , Clayton , P T , Das , A , Dekker , H , Evangeliou , A , Feillet , F , Footitt , E J , Gospe , S M , Hartmann , H , Kara , M , Kristensen , E , Lee , J , Lilje , R , Longo , N , Lunsing , R J , Mills , P ....

مصطلحات موضوعية: alpha aminoadipic semialdehyde, consensus guidelines, pyridoxine‐, dependent epilepsy, responsive seizures, MOLYBDENUM COFACTOR DEFICIENCY, HOMOZYGOUS MISSENSE MUTATION, DIETARY LYSINE RESTRICTION, ACID-RESPONSIVE SEIZURES, ARGININE SUPPLEMENTATION, PIPECOLIC ACID, ANTIQUITIN DEFICIENCY, ALDH7A1, FEATURES, EPIDEMIOLOGY

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/226f4fbc-4b79-4e7d-8e1a-9bed0a75afc2Test

الإتاحة: https://doi.org/10.1002/jimd.12332Test
https://hdl.handle.net/11370/226f4fbc-4b79-4e7d-8e1a-9bed0a75afc2Test
https://research.rug.nl/en/publications/226f4fbc-4b79-4e7d-8e1a-9bed0a75afc2Test
https://pure.rug.nl/ws/files/156009464/jimd.12332.pdfTest

المؤلفون: Ormond, Kelly E., Borensztein, Maia J., Hallquist, Miranda L.G., Buchanan, Adam H., Faucett, William Andrew, Peay, Holly L., Smith, Maureen E., Tricou, Eric P., Uhlmann, Wendy R., Wain, Karen E., Coughlin, Curtis R.

المصدر: Journal of Personalized Medicine, 11 (S 12)

مصطلحات موضوعية: informed consent

وصف الملف: application/application/pdf

العلاقة: http://hdl.handle.net/20.500.11850/518789Test

الإتاحة: https://doi.org/20.500.11850/518789Test
https://doi.org/10.3929/ethz-b-000518789Test
https://doi.org/10.3390/jpm11121304Test
https://hdl.handle.net/20.500.11850/518789Test

المؤلفون: Hallquist, Miranda L. G., Tricou, Eric P., Ormond, Kelly E., Savatt, Juliann M., Coughlin, Curtis R., Faucett, W. Andrew, Hercher, Laura, Levy, Howard P., O’Daniel, Julianne M., Peay, Holly L., Stosic, Melissa, Smith, Maureen, Uhlmann, Wendy R., Wand, Hannah, Wain, Karen E., Buchanan, Adam H.

المساهمون: National Human Genome Research Institute

المصدر: Genome Medicine ; volume 13, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-021-00887-xTest