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1دورية أكاديمية
المؤلفون: Albizua, Igor, Charen, Krista, Shubeck, Lisa, Talboy, Amy, Berry‐Kravis, Elizabeth, Kaufmann, Walter E, Stallworth, Jennifer L, Drazba, Katy T, Erickson, Craig A, Sweeney, John A, Tartaglia, Nicole, Warren, Steven F, Hagerman, Randi, Sherman, Stephanie L, Warren, Stephen T, Jin, Peng, Allen, Emily G
المصدر: Molecular Genetics & Genomic Medicine. 10(8)
مصطلحات موضوعية: Biological Sciences, Medicinal and Biomolecular Chemistry, Chemical Sciences, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Epilepsy, Rare Diseases, Pediatric, Mental Health, Fragile X Syndrome, Behavioral and Social Science, Autism, Neurosciences, Neurodegenerative, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Autism Spectrum Disorder, Comorbidity, Fragile X Mental Retardation Protein, Humans, Mitral Valve Prolapse, Seizures, ADHD, autism spectrum disorder, epilepsy, fragile X syndrome, seizures, Clinical Sciences, Medicinal and biomolecular chemistry
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4t77p4tkTest
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2دورية أكاديمية
المؤلفون: Sohn, Young Bae, Rogers, Curtis, Stallworth, Jennifer, Coleman, Jessica A Cooley, Buch, Laura, Jozwiak, Erin, Johnson, Jo Ann, Wood, Tim, Harmatz, Paul, Pollard, Laura, Louie, Raymond J
مصطلحات موضوعية: Human Genome, Intellectual and Developmental Disabilities (IDD), Genetics, Biotechnology, Brain Disorders, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, GALNS, GALNS transcript isoform, Aberrant splicing, Morquio syndrome A, Mucopolysaccharidosis IVA, Biochemistry and Cell Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5012j7ntTest
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3دورية أكاديمية
المؤلفون: Claus, Laura R., Chen, Chuan, Stallworth, Jennifer, Turner, Joshua L., Slaats, Gisela, Hawks, Alexandra L., Mabillard, Holly, Senum, Sarah R., Srikanth, Sujata, Flanagan-Steet, Heather, Louie, Raymond J., Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Sleutels, Frank, van Slegtenhorst, Marjon, van Ham, Tjakko, Brooks, Alice S., Dorresteijn, Eiske M., Barakat, Tahsin Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric, Olinger, Eric, Larsen, Martin, Hertz, Jens Michael, Lilien, Marc R., Obeidová, Lena, Seeman, Tomas, Stone, Hillarey K., Kerecuk, Larissa, Gurgu, Mihai, Yousef Yengej, Fjodor A., Ammerlaan, Carola ME., Rookmaaker, Maarten B., Hanna, Christian, Rogers, R. Curtis, Duran, Karen, Peters, Edith, Sayer, John A., van Haaften, Gijs, Harris, Peter C., Ling, Kun, Mason, Jennifer M., van Eerde, Albertien M., Steet, Richard
المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (MGD) Service de néphrologie
المصدر: Kidney International, Vol. 104, no. 5, p. 995-1007 (2023)
مصطلحات موضوعية: Nephrology
العلاقة: boreal:277435; http://hdl.handle.net/2078.1/277435Test; urn:ISSN:0085-2538
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4مؤتمر
المؤلفون: Claus, Laura, Stallworth, Jennifer, van Jaarsveld, Richard, Turner, Joshu, Hawks, Alexandra, May, Melanie, Flanagan-Steet, Heather, Louie, Raymond, Silver, Josh, Lerner-Ellise, Jordan, Morel, Chantal, Mighton, Chloe, Ziegler, Alban, Barakat, Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric, Larsen, Martin, Michael Hertz, Jens, Lilien, Marc, Olinger, Eric, Sayer, John, Obeidová, Lena, Seeman, Tomas, Senum, Sarah, Hanna, Christian, Rogers, Curtis, Duran, Karen, Peters, Edith, Harris, Peter, Mason, Jennifer, van Haaften, Gijs, M. Van Eerde, Albertien, Steet, Richard, 59th ERA Congress
المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (MGD) Service de néphrologie
مصطلحات موضوعية: Transplantation, Nephrology
العلاقة: boreal:267254; http://hdl.handle.net/2078.1/267254Test; urn:ISSN:0931-0509; urn:EISSN:1460-2385
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5مؤتمر
المؤلفون: Claus, Laura, Stallworth, Jennifer, van Jaarsveld, Richard, Turner, Joshu, Hawks, Alexandra, May, Melanie, Flanagan-Steet, Heather, Louie, Raymond, Silver, Josh, Lerner-Ellise, Jordan, Morel, Chantal, Mighton, Chloe, Ziegler, Alban, Barakat, Stefan, Dahan, Karin, Demoulin, Nathalie, Jean Goffin, Eric, Larsen, Martin, Michael Hertz, Jens, Lilien, Marc, Olinger, Eric, Sayer, John, Obeidová, Lena, Seeman, Tomas, Senum, Sarah, Hanna, Christian, Rogers, Curtis, Duran, Karen, Peters, Edith, Harris, Peter, Mason, Jennifer, van Haaften, Gijs, M. Van Eerde, Albertien, Steet, Richard
المصدر: Claus , L , Stallworth , J , van Jaarsveld , R , Turner , J , Hawks , A , May , M , Flanagan-Steet , H , Louie , R , Silver , J , Lerner-Ellise , J , Morel , C , Mighton , C , Ziegler , A , Barakat , S , Dahan , K , Demoulin , N , Jean Goffin , E , Larsen , M , Michael Hertz , J , Lilien , M , Olinger , E , Sayer , J , Obeidová , L , Seeman , T , ....
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/04d51b1c-decc-4d01-b79d-93fb8f1f0fe6Test
الإتاحة: https://doi.org/10.1093/ndt/gfac104.004Test
https://portal.findresearcher.sdu.dk/da/publications/04d51b1c-decc-4d01-b79d-93fb8f1f0fe6Test -
6دورية أكاديمية
المؤلفون: Buchanan, Caroline B., Stallworth, Jennifer L., Joy, Aubin E., Dixon, Rebekah E., Scott, Alexandra E., Beisang, Arthur A., Benke, Timothy A., Glaze, Daniel G., Haas, Richard H., Heydemann, Peter T., Jones, Mary D., Lane, Jane B., Lieberman, David N., Marsh, Eric D., Neul, Jeffrey L., Peters, Sarika U., Ryther, Robin C., Skinner, Steve A., Standridge, Shannon M., Kaufmann, Walter E., Percy, Alan K.
المساهمون: National Institutes of Health, International Rett Syndrome Foundation
المصدر: Journal of Neurodevelopmental Disorders ; volume 14, issue 1 ; ISSN 1866-1947 1866-1955
مصطلحات موضوعية: Cognitive Neuroscience, Neurology (clinical), Pathology and Forensic Medicine, Pediatrics, Perinatology and Child Health
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7دورية أكاديمية
المؤلفون: Cooley Coleman, Jessica A., Fee, Timothy, Bend, Renee, Louie, Raymond, Annese, Fran, Stallworth, Jennifer, Worthington, Jessica, Buchanan, Caroline Black, Everman, David B., Skinner, Steven, Friez, Michael J., Jones, Julie R., Spellicy, Catherine J.
المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 10, page 2988-2998 ; ISSN 1552-4825 1552-4833
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8مؤتمر
المؤلفون: Claus, Laura R., Stallworth, Jennifer, Van Jaarsveld, Richard H., Louie, Ray, Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Ziegler, Alban, Barakat, Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric, Larsen, Martin J., Hertz, Jens Michael, Lilien, Marc, Olinger, Eric, Sayer, John A., Rogers, Curtis, Duran, Karen J., Peters, Edith Dj, Van Haaften, Gijs, Steet, Richard, Van Eerde, Albertien M.
المصدر: Claus , L R , Stallworth , J , Van Jaarsveld , R H , Louie , R , Silver , J , Lerner-Ellis , J , Morel , C , Mighton , C , Ziegler , A , Barakat , S , Dahan , K , Demoulin , N , Goffin , E , Larsen , M J , Hertz , J M , Lilien , M , Olinger , E , Sayer , J A , Rogers , C , Duran , K J , Peters , E D , Van Haaften , G , Steet , ....
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/5152c943-5005-4e47-be3b-9531a9b5effaTest
الإتاحة: https://doi.org/10.1007/s00467-021-05210-9Test
https://portal.findresearcher.sdu.dk/da/publications/5152c943-5005-4e47-be3b-9531a9b5effaTest -
9دورية أكاديمية
المساهمون: National Institutes of Health, Rettsyndrome.org
المصدر: Expert Opinion on Orphan Drugs ; volume 4, issue 10, page 1043-1055 ; ISSN 2167-8707
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10دورية أكاديمية
المؤلفون: Stolerman, Elliot S., Francisco, Elizabeth, Stallworth, Jennifer L., Jones, Julie R., Monaghan, Kristin G., Keller-Ramey, Jennifer, Person, Richard, Wentzensen, Ingrid M., McWalter, Kirsty, Keren, Boris, Heron, Benedicte, Nava, Caroline, Heron, Delphine, Kim, Katherine, Burton, Barbara, Al-Musafri, Fatima, O'Grady, Lauren, Sahai, Inderneel, Escobar, Luis F., Meuwissen, Marije, Reyniers, Edwin, Kooy, Frank, Lacassie, Yves, Gunay-Aygun, Meral, Schatz, Krista Sondergaard, Hochstenbach, Ron, Zwijnenburg, Petra J. G., Waisfisz, Quinten, van Slegtenhorst, Marjon, Mancini, Grazia M. S., Louie, Raymond J.
المصدر: Stolerman , E S , Francisco , E , Stallworth , J L , Jones , J R , Monaghan , K G , Keller-Ramey , J , Person , R , Wentzensen , I M , McWalter , K , Keren , B , Heron , B , Nava , C , Heron , D , Kim , K , Burton , B , Al-Musafri , F , O'Grady , L , Sahai , I , Escobar , L F , Meuwissen , M , Reyniers , E , Kooy , F , Lacassie , Y , Gunay-Aygun ....
الإتاحة: https://doi.org/10.1002/ajmg.a.61173Test
https://research.vumc.nl/en/publications/3e3bcd0a-1e3f-49a0-843e-39f3fa4be449Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066279759&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/31124279Test