نتائج البحث

1

دورية أكاديمية

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

المؤلفون: Paul, Maimuna S, Michener, Sydney L, Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M, Rosenfeld, Jill A, Lerma, Vanesa C, Tran, Alyssa, Longley, Megan A, Lewis, Richard A, Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Mester, Jessica L, Guillen Sacoto, Maria J, Person, Richard, McDonnell, Pamela P, Cohen, Stacey R, Lusk, Laina, Cohen, Ana SA, Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran B, Karimiani, Ehsan G, Maroofian, Reza, Schaefer, Gerald B, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather, Acosta, MT, Adam, M, Adams, DR, Alvarez, RL, Alvey, J, Amendola, L, Andrews, A, Ashley, EA, Bacino, CA, Bademci, G, Balasubramanyam, A, Baldridge, D, Bale, J, Bamshad, M, Barbouth, D, Bayrak-Toydemir, P, Beck, A, Beggs, AH, Behrens, E, Bejerano, G, Bellen, HJ, Bennett, J, Berg-Rood, B, Bernstein, JA, Berry, GT, Bican, A, Bivona, S, Blue, E, Bohnsack, J, Bonner, D, Botto, L, Boyd, B, Briere, LC, Brown, G, Burke, EA, Burrage, LC, Butte, MJ, Byers, P, Byrd, WE, Carey, J, Carrasquillo, O, Cassini, T, Chang, TCP, Chanprasert, S, Undiagnosed Diseases Network, .

المصدر: American Journal of Human Genetics , 111 (1) pp. 96-118. (2024)

مصطلحات موضوعية: neurodevelopmental disorder, synaptic protein, active zone protein, Mendelian phenotypes, fruit flies

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10188776/1/A%20syndromic%20neurodevelopmental%20disorder%20caused%20by%20rare%20variants%20in%20PPFIA3.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10188776Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10188776/1/A%20syndromic%20neurodevelopmental%20disorder%20caused%20by%20rare%20variants%20in%20PPFIA3.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10188776Test/

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2

دورية أكاديمية

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

المصدر: Posset , R , Garbade , SF , Gleich , F , Gropman , AL , de Lonlay , P , Hoffmann , GF , Garcia-Cazorla , A , Nagamani , SCS , Baumgartner , MR , Schulze , A , Dobbelaere , D , Yudkoff , M , Kölker , S , Zielonka , M , Ah Mew , N , Berry , SA , McCandless , SE , Coughlin , C , Enns , G , Gallagher , RC , Burrage , LC , Seminara , J , Harding , CO , Burgard , P , Le ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41598-020-67496-3Test
https://pure.eur.nl/en/publications/73699bdb-fc0a-4270-a145-fa58f1f2dc6eTest
https://pure.eur.nl/ws/files/48368802/Repub_129092_O-A.pdfTest
http://hdl.handle.net/1765/129092Test

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3

دورية أكاديمية

The natural history of classic galactosemia: lessons from the GalNet registry

المصدر: Rubio-Gozalbo , ME , Haskovic , M , Bosch , AM , Burnyte , B , Coelho , AI , Cassiman , D , Couce , ML , Dawson , C , Demirbas , D , Derks , T , Eyskens , F , Forga , MT , Grunewald , S , Haberle , J , Hochuli , M , Hubert , A , Huidekoper , H , Janeiro , P , Kotzka , J , Knerr , I , Labrune , P , Landau , YE , Langendonk , J , Moeslinger , D , Mueller-Wieland , D ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1186/s13023-019-1047-zTest
https://pure.eur.nl/en/publications/d53a0bc7-d5ef-4ac7-bef7-e4db6355f12aTest
https://pure.eur.nl/ws/files/48193857/Repub_116995_O-A.pdfTest
http://hdl.handle.net/1765/116995Test

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4

دورية أكاديمية

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

المؤلفون: Johnson, BV, Kumar, R, Oishi, S, Alexander, S, Kasherman, M, Vega, MS, Ivancevic, A, Gardner, A, Domingo, D, Corbett, M, Parnell, E, Yoon, S, Oh, T, Lines, M, Lefroy, H, Kini, U, Van Allen, M, Grønborg, S, Mercier, S, Küry, S, Bézieau, S, Pasquier, L, Raynaud, M, Afenjar, A, Billette de Villemeur, T, Keren, B, Désir, J, Van Maldergem, L, Marangoni, M, Dikow, N, Koolen, DA, VanHasselt, PM, Weiss, M, Zwijnenburg, P, Sa, J, Reis, CF, López-Otín, C, Santiago-Fernández, O, Fernández-Jaén, A, Rauch, A, Steindl, K, Joset, P, Goldstein, A, Madan-Khetarpal, S, Infante, E, Zackai, E, Mcdougall, C, Narayanan, V, Ramsey, K, Mercimek-Andrews, S, Pena, L, Shashi, V, Schoch, K, Sullivan, JA, Acosta, MT, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Bademci, G, Baker, E, Balasubramanyam, A, Baldridge, D, Barbouth, D, Batzli, GF, Beggs, AH, Bellen, HJ, Bernstein, JA, Berry, GT, Bican, A, Bick, DP, Birch, CL, Bivona, S, Bonnenmann, C, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Carrasquillo, O, Peter Chang, TC, Chao, HT, Clark, GD, Coakley, TR, Cobban, LA, Cogan, JD, Cole, FS, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Wood, Stephen

مصطلحات موضوعية: Biological sciences, Biomedical and clinical sciences, Clinical sciences, Neurosciences, Psychology

العلاقة: Biological Psychiatry; Johnson, BV; Kumar, R; Oishi, S; Alexander, S; Kasherman, M; Vega, MS; Ivancevic, A; Gardner, A; Domingo, D; Corbett, M; Parnell, E; Yoon, S; Oh, T; Lines, M; Lefroy, H; Kini, U; Van Allen, M; Grønborg, S; Mercier, S; Küry, S; Bézieau, S; Pasquier, L; Raynaud, M; Afenjar, A; Billette de Villemeur, T; Keren, B; Désir, J; Van Maldergem, L; Marangoni, M; Dikow, N; Koolen, DA; VanHasselt, PM; Weiss, M; Zwijnenburg, P; Sa, J; Reis, CF; López-Otín, C; Santiago-Fernández, O; Fernández-Jaén, A; Rauch, A; Steindl, K; Joset, P; Goldstein, A; Madan-Khetarpal, S; Infante, E; Zackai, E; Mcdougall, C; Narayanan, V; Ramsey, K; Mercimek-Andrews, S; Pena, L; Shashi, V; Schoch, K; Sullivan, JA; Acosta, MT; Adams, DR; Aday, A; Alejandro, ME; Allard, P; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G; Baker, E; Balasubramanyam, A; Baldridge, D; Barbouth, D; Batzli, GF; Beggs, AH; Bellen, HJ; Bernstein, JA; Berry, GT; Bican, A; Bick, DP; Birch, CL; Bivona, S; Bonnenmann, C; Bonner, D; Boone, BE; Bostwick, BL; Briere, LC; Brokamp, E; Brown, DM; Brush, M; Burke, EA; Burrage, LC; Butte, MJ; Carrasquillo, O; Peter Chang, TC; Chao, HT; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Cole, FS; Colley, HA; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P, Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling, Biological Psychiatry, 2019; http://hdl.handle.net/10072/386708Test

الإتاحة: https://doi.org/10.1016/j.biopsych.2019.05.028Test
http://hdl.handle.net/10072/386708Test

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5

دورية أكاديمية

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

المؤلفون: Santer, R, Groth, S, Kinner, M, Dombrowski, A, Berry, GT, Brodehl, J, Leonard, JV, Moses, S, Norgren, S, Skovby, F, Schneppenheim, R, Steinmann, B, Schaub, J

المصدر: Human genetics. 110(1):21-29

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:1949693Test

6

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

المؤلفون: Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S, UCDC and the E-IMD consortia study group

المصدر: ANNALS OF NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0bdf613de635f8d7894323b19eab8f9dTest
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16189Test

7

دورية أكاديمية

Fatal hyperammonemia following orthotopic lung transplantation

المؤلفون: Lichtenstein, GR, Kaiser, LR, Tuchman, M, Palevsky, HI, Kotloff, RM, O'Brien, CB, Furth, EE, Raps, EC, Berry, GT

المصدر: Gastroenterology ; volume 112, issue 1, page 236-240 ; ISSN 0016-5085

مصطلحات موضوعية: Gastroenterology, Hepatology

الإتاحة: https://doi.org/10.1016/s0016-5085Test(97)70240-3
https://api.elsevier.com/content/article/PII:S0016508597702403?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0016508597702403?httpAccept=text/plainTest

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8

دورية أكاديمية

2D networks of metallo-capsules and other coordination polymers from a hexapodal ligand

المؤلفون: Thorp-Greenwood, FL, Berry, GT, Boyadjieva, SS, Oldknow, S, Hardie, MJ

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/132428/3/author%20accepted%20manuscript.pdfTest; https://eprints.whiterose.ac.uk/132428/10/c8ce00806j1.pdfTest; Thorp-Greenwood, FL orcid.org/0000-0001-6228-2056 , Berry, GT, Boyadjieva, SS et al. (2 more authors) (2018) 2D networks of metallo-capsules and other coordination polymers from a hexapodal ligand. CrystEngComm, 20 (28). pp. 3939-4060. ISSN 1466-8033

الإتاحة: https://eprints.whiterose.ac.uk/132428Test/
https://eprints.whiterose.ac.uk/132428/3/author%20accepted%20manuscript.pdfTest
https://eprints.whiterose.ac.uk/132428/10/c8ce00806j1.pdfTest

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