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1دورية أكاديمية
المؤلفون: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia AL, Nibbeling, Esther, Dingemans, Alexander JM, Douine, Emilie D, Nelson, Stanley F, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth
المصدر: Genetics in Medicine. 21(4)
مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Brain Disorders, Rare Diseases, Pediatric, Clinical Research, Digestive Diseases, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Developmental Disabilities, Exome, Female, Genetic Association Studies, Genotype, Histone Acetyltransferases, Humans, Infant, Intellectual Disability, Male, Microcephaly, Mutation, Phenotype, Protein Isoforms, Young Adult, genetic diagnosis, phenotypic spectrum, KAT6A syndrome, chromatin modifiers, intellectual disability, DDD Study, KAT6A syndrome, chromatin modifiers, intellectual disability, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/79s761gbTest
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2دورية أكاديمية
المؤلفون: Reith, Sarah R., Stahmer, Aubyn C., Suhrheinrich, Jessica, Schreibman, Laura, Kennedy, Joanna, Ross, Benjamin
المصدر: Grantee Submission. Sep 2014 29(3):168-179.
تمت مراجعته من قبل الزملاء: Y
Page Count: 13
Sponsoring Agency: Institute of Education Sciences (ED)
الواصفات: Autism, Pervasive Developmental Disorders, Intervention, Evidence, Outcomes of Treatment, Toddlers, Behavior Modification, Child Behavior, Behavior Patterns, Scores, Developmental Stages, Play, Interaction
معرفات التقييم و الدراسة: Autism Diagnostic Observation Schedule
IES Funded: Yes
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3دورية أكاديميةTMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
المؤلفون: Tábara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund RS, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L
مصطلحات موضوعية: TMEM63C, endoplasmic reticulum/ER, hereditary spastic paraplegia/HSP, mitochondria, mitochondria-ER contact sites/MERCs, Calcium Channels, Endoplasmic Reticulum, Humans, Mutation, Spastic Paraplegia, Hereditary
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.17863/CAM.83247Test
https://www.repository.cam.ac.uk/handle/1810/335811Test -
4دورية أكاديمية
المؤلفون: Leslie, Joseph S., Hjeij, Rim, Vivante, Asaf, Bearce, Elizabeth A., Dyer, Laura, Wang, Jiaolong, Rawlins, Lettie, Kennedy, Joanna, Ubeyratna, Nishanka, Fasham, James, Irons, Zoe H., Craig, Samuel B., Koenig, Julia, George, Sebastian, Pode-Shakked, Ben, Bolkier, Yoav, Barel, Ortal, Mane, Shrikant, Frederiksen, Kathrine K., Wenger, Olivia, Scott, Ethan, Cross, Harold E., Lorentzen, Esben, Norris, Dominic P., Anikster, Yair, Omran, Heymut, Grimes, Daniel T., Crosby, Andrew H., Baple, Emma L.
المصدر: Leslie , J S , Hjeij , R , Vivante , A , Bearce , E A , Dyer , L , Wang , J , Rawlins , L , Kennedy , J , Ubeyratna , N , Fasham , J , Irons , Z H , Craig , S B , Koenig , J , George , S , Pode-Shakked , B , Bolkier , Y , Barel , O , Mane , S , Frederiksen , K K , Wenger , O , Scott , E , Cross , H E , Lorentzen , E , Norris ....
مصطلحات موضوعية: DAW1, Heterotaxy, Left-right asymmetry, Motile cilia, Primary ciliary dyskinesia
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.gim.2022.07.019Test
https://pure.au.dk/portal/en/publications/7b4a9a5f-60ea-4e3a-8fe5-6f943101cb02Test
https://pure.au.dk/ws/files/333616979/1_s2.0_S109836002200870X_main.pdfTest -
5دورية أكاديمية
المؤلفون: Tabara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund RS, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L
المصدر: Brain , 145 (10) , Article E103. (2022)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10160340/1/Houlden_TMEM63C%20mutations%20cause%20mitochondrial%20morphology%20defects%20and%20underlie%20hereditary%20spastic%20paraplegia_correction_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10160340Test/
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6دورية أكاديمية
المؤلفون: Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Pérez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M.H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W.Y., Ahring, Philip K., Møller, Rikke S., Gardella, Elena
المصدر: Genetics in Medicine ; volume 24, issue 3, page 681-693 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2021.11.004Test
https://api.elsevier.com/content/article/PII:S109836002105382X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109836002105382X?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Isidor, Bertrand, Ebstein, Frédéric, Hurst, Anna, Vincent, Marie, Bader, Ingrid, Rudy, Natasha L., Cogne, Benjamin, Mayr, Johannes, Brehm, Anja, Bupp, Caleb, Warren, Kathryn, Bacino, Carlos A., Gerard, Amanda, Ranells, Judith D., Metcalfe, Kay A., van Bever, Yolande, Jiang, Yong-Hui, Mendelssohn, Bryce A., Cope, Heidi, Rosenfeld, Jill A., Blackburn, Patrick R., Goodenberger, McKinsey L., Kearney, Hutton M., Kennedy, Joanna, Scurr, Ingrid, Szczaluba, Krzysztof, Ploski, Rafal, de Saint Martin, Anne, Alembik, Yves, Piton, Amélie, Bruel, Ange-Line, Thauvin-Robinet, Christel, Strong, Alanna, Diderich, Karin E.M., Bourgeois, Dominique, Dahan, Karin, Vignard, Virginie, Bonneau, Dominique, Colin, Estelle, Barth, Magalie, Camby, Caroline, Baujat, Geneviève, Briceño, Ignacio, Gómez, Alberto, Deb, Wallid, Conrad, Solène, Besnard, Thomas, Bézieau, Stéphane, Krüger, Elke, Küry, Sébastien
المساهمون: Deutsche Forschungsgemeinschaft
المصدر: Genetics in Medicine ; volume 24, issue 1, page 179-191 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2021.09.005Test
https://api.elsevier.com/content/article/PII:S1098360021041320?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021041320?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Rieth, Sarah R, Stahmer, Aubyn C, Suhrheinrich, Jessica, Schreibman, Laura, Kennedy, Joanna, Ross, Benjamin
المصدر: Focus on Autism and Other Developmental Disabilities. 29(3)
مصطلحات موضوعية: Education Systems, Education, Pediatric Research Initiative, Mental Health, Brain Disorders, Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), Mind and Body, Autism, Pediatric, Mental health, evidence-based intervention, naturalistic behavioral intervention, turn taking, critical elements, Specialist Studies in Education, Education systems
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0405370kTest
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9دورية أكاديمية
المؤلفون: Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q. C. M., Peeters-Scholte, Cacha M. P. C. D., Ruivenkamp, Claudia A. L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.
المصدر: Stolz , J R , Foote , K M , Veenstra-Knol , H E , Pfundt , R , ten Broeke , S W , de Leeuw , N , Roht , L , Pajusalu , S , Part , R , Rebane , I , Õunap , K , Stark , Z , Kirk , E P , Lawson , J A , Lunke , S , Christodoulou , J , Louie , R J , Rogers , R C , Davis , J M , Innes , A M , Wei , X-C , Keren , B ....
مصطلحات موضوعية: MOSSY-FIBER SYNAPSES, GLUTAMATE-RECEPTOR-6 GENE, LURCHER MUTATION, GLUTAMATE, ACTIVATION, ASSOCIATION, MATURATION, AUTISM, EXPRESSION, VARIANTS
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ajhg.2021.07.007Test
https://hdl.handle.net/11370/e571add2-0d7b-440f-8547-5b406f97bea0Test
https://research.rug.nl/en/publications/e571add2-0d7b-440f-8547-5b406f97bea0Test
https://pure.rug.nl/ws/files/181284387/1_s2.0_S0002929721002755_main.pdfTest -
10دورية أكاديمية
المؤلفون: Oates, Stephanie, Absoud, Michael, Goyal, Sushma, Bayley, Sophie, Baulcomb, Jennifer, Sims, Annemarie, Riddett, Amy, Allis, Katrina, Brasch-Andersen, Charlotte, Balasubramanian, Meena, Bai, Renkui, Callewaert, Bert, Hüffmeier, Ulrike, Le Duc, Diana, Radtke, Maximilian, Korff, Christian, Kennedy, Joanna, Low, Karen, Møller, Rikke S, Nielsen, Jens Erik Klint, Popp, Bernt, Quteineh, Lina, Rønde, Gitte, Schönewolf-Greulich, Bitten, Shillington, Amelle, Taylor, Matthew Rg, Todd, Emily, Torring, Pernille M, Tümer, Zeynep, Vasileiou, Georgia, Yates, T Michael, Zweier, Christiane, Rosch, Richard, Basson, M Albert, Pal, Deb K
المصدر: ISSN: 0009-9163 ; Clinical genetics, vol. 100, no. 4 (2021) p. 412-429.
مصطلحات موضوعية: info:eu-repo/classification/ddc/618, info:eu-repo/classification/ddc/576.5, EEG, Antiepileptic drug, Autism, Bromodomain, Comorbidity, Epigenetic, Histone H3.3, Seizure, Adolescent, Adult, Alleles, Amino Acid Substitution, Cell Cycle Proteins / genetics, Child, Preschool, Co-Repressor Proteins / genetics, DNA-Binding Proteins / genetics, Databases, Factual, Electroencephalography, Epilepsy / diagnosis, Epilepsy / genetics, Epilepsy / therapy, Epilepsy, Generalized / diagnosis, Generalized / genetics, Female, Genetic Association Studies
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34216016; https://archive-ouverte.unige.ch/unige:170838Test; unige:170838
