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1دورية أكاديمية
المؤلفون: Guerrini, R. (Renzo), Mei, D. (Davide), Kerti-Szigeti, K. (Katalin), Pepe, S. (Sara), Koenig, M. K. (Mary Kay), Von Allmen, G. (Gretchen), Cho, M. T. (Megan T), McDonald, K. (Kimberly), Baker, J. (Janice), Bhambhani, V. (Vikas), Powis, Z. (Zöe), Rodan, L. (Lance), Nabbout, R. (Rima), Barcia, G. (Giulia), Rosenfeld, J. A. (Jill A), Bacino, C. A. (Carlos A), Mignot, C. (Cyril), Power, L. H. (Lillian H), Harris, C. J. (Catharine J), Marjanovic, D. (Dragan), Møller, R. S. (Rikke S), Hammer, T. B. (Trine B), T. D. (The DDD Study), Keski Filppula, R. (Riikka), Vieira, P. (Päivi), Hildebrandt, C. (Clara), Sacharow, S. (Stephanie), U. D. (Undiagnosed Diseases Network), Maragliano, L. (Luca), Benfenati, F. (Fabio), Lachlan, K. (Katherine), Benneche, A. (Andreas), Petit, F. (Florence), de Sainte Agathe, J. M. (Jean Madeleine), Hallinan, B. (Barbara), Si, Y. (Yue), Wentzensen, I. M. (Ingrid M), Zou, F. (Fanggeng), Narayanan, V. (Vinodh), Matsumoto, N. (Naomichi), Boncristiano, A. (Alessandra), la Marca, G. (Giancarlo), Kato, M. (Mitsuhiro), Anderson, K. (Kristin), Barba, C. (Carmen), Sturiale, L. (Luisa), Garozzo, D. (Domenico), Bei, R. (Roberto), A. c. (ATP6V1A collaborators), Masuelli, L. (Laura), Conti, V. (Valerio), Novarino, G. (Gaia), Fassio, A. (Anna)
مصطلحات موضوعية: ATP6V1A, developmental delay, epileptic encephalopathy, lysosomal disorder, progressive brain atrophy
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., Mcdonald, K., Baker, J., Bhambhani, V., Powis, Z., Rodan, L., Nabbout, R., Barcia, G., Rosenfeld, J. A., Bacino, C. A., Mignot, C., Power, L. H., Harris, C. J., Marjanovic, D., Møller, R. S., Hammer, T. B., Keski Filppula, R., Vieira, P., Hildebrandt, C., Sacharow, S., Maragliano, L., Benfenati, F., Lachlan, K., Benneche, A., Petit, Florence, De Sainte Agathe, J. M., Hallinan, B., Si, Y., Wentzensen, I. M., Zou, F., Narayanan, V., Matsumoto, N., Boncristiano, A., La Marca, G., Kato, M., Anderson, K., Barba, C., Sturiale, L., Garozzo, D., Bei, R., Masuelli, L., Conti, V., Novarino, G., Fassio, A.
المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
مصطلحات موضوعية: epileptic encephalopathy, lysosomal disorder, progressive brain atrophy, developmental delay
وصف الملف: application/octet-stream
العلاقة: Brain; http://hdl.handle.net/20.500.12210/84149Test
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3دورية أكاديمية
المؤلفون: Guerrini, R, Mei, D, Kerti-Szigeti, K, Pepe, S, Koenig, MK, Von Allmen, G, Cho, MT, McDonald, K, Baker, J, Bhambhani, V, Powis, Z, Rodan, L, Nabbout, R, Barcia, G, Rosenfeld, JA, Bacino, CA, Mignot, C, Power, LH, Harris, CJ, Marjanovic, D, Moller, RS, Hammer, TB, Filppula, RK, Vieira, P, Hildebrandt, C, Sacharow, S, Maragliano, L, Benfenati, F, Lachlan, K, Benneche, A, Petit, F, de Sainte Agathe, JM, Hallinan, B, Si, Y, Wentzensen, IM, Zou, FG, Narayanan, V, Matsumoto, N, Boncristiano, A, la Marca, G, Kato, M, Anderson, K, Barba, C, Sturiale, L, Garozzo, D, Bei, R, Masuelli, L, Conti, V, Novarino, G, Fassio, A
المساهمون: Guerrini, R, Mei, D, Kerti-Szigeti, K, Pepe, S, Koenig, M, Von Allmen, G, Cho, M, Mcdonald, K, Baker, J, Bhambhani, V, Powis, Z, Rodan, L, Nabbout, R, Barcia, G, Rosenfeld, J, Bacino, C, Mignot, C, Power, L, Harris, C, Marjanovic, D, Moller, R, Hammer, T, Filppula, R, Vieira, P, Hildebrandt, C, Sacharow, S, Maragliano, L, Benfenati, F, Lachlan, K, Benneche, A, Petit, F, de Sainte Agathe, J, Hallinan, B, Si, Y, Wentzensen, I, Zou, F, Narayanan, V, Matsumoto, N, Boncristiano, A, la Marca, G, Kato, M, Anderson, K, Barba, C, Sturiale, L, Garozzo, D, Bei, R, Masuelli, L, Conti, V, Novarino, G, Fassio, A
مصطلحات موضوعية: epileptic encephalopathy, lysosomal disorder, progressive brain atrophy, developmental delay, Adenosine Triphosphate, Atrophy, Child, Homeostasis, Humans, Infant, Lysosomes, Phenotype, Brain Diseases, Epilepsy, Intellectual Disability, Spasms, Infantile, Vacuolar Proton-Translocating ATPases, Settore MED/04 - PATOLOGIA GENERALE, Settore MED/26 - NEUROLOGIA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35675510; info:eu-repo/semantics/altIdentifier/wos/WOS:000807770000001; volume:145; issue:8; firstpage:2687; lastpage:2703; numberofpages:17; journal:BRAIN; https://hdl.handle.net/2108/308735Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142145538
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4دورية أكاديمية
المؤلفون: O'Grady, L., Vergano, Samantha A., Hoffman, T.L., Sarco, D., Cherny, S., Bryant, E., Schultz-Rogers, L., Chung, W.K., Sacharow, S., Immken, L.L., Holder, S., Blackwell, R.R., Buchanan, C., Yusupov, R., Lecoquierre, F., Guerrot, A.M., Rodan, L., Vries, B.B.A. de, Kamsteeg, E.J., Simarro, F. Santos, Palomares-Bralo, M., Brown, N., Pais, L., Ferrer, A., Klee, E.W., Babovic-Vuksanovic, D., Rhodes, L., Person, R., Begtrup, A., Keller-Ramey, J., Santiago-Sim, T., Schnur, R.E., Sweetser, D.A., Gold, N.B.
المصدر: American Journal of Medical Genetics. Part A, 188, 9, pp. 2750-2759
مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl/handle/2066/282684Test; https://doi.org/10.1002/ajmg.a.62772Test
الإتاحة: https://doi.org/10.1002/ajmg.a.62772Test
https://repository.ubn.ru.nl/handle/2066/282684Test -
5دورية أكاديمية
المؤلفون: Lindstrom, K, Sacharow, S, Northrup, H, Whitehall, KB, Rowell, R, Burton, B, Thomas, J
المصدر: Molecular Genetics and Metabolism ; volume 136, page S23 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/s1096-7192Test(22)00222-0
https://api.elsevier.com/content/article/PII:S1096719222002220?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719222002220?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Viau, KS, Wessel, A, Martell, L, Sacharow, S, Rohr, F
المصدر: Molecular Genetics and Metabolism ; volume 136, page S26-S27 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/s1096-7192Test(22)00231-1
https://api.elsevier.com/content/article/PII:S1096719222002311?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719222002311?httpAccept=text/plainTest -
7
المؤلفون: Hemati, P, Revah-Politi, A, Bassan, H, Petrovski, S, Bilancia, CG, Ramsey, K, Griffin, NG, Bier, L, Cho, MT, Rosello, M, Lynch, SA, Colombo, S, Weber, A, Haug, M, Heinzen, EL, Sands, TT, Narayanan, V, Primiano, M, Aggarwal, VS, Millan, F, Sattler-Holtrop, SG, Caro-Llopis, A, Pillar, N, Baker, J, Freedman, R, Kroes, HY, Sacharow, S, Stong, N, Lapunzina, P, Schneider, MC, Mendelsohn, NJ, Singleton, A, Ramey, VL, Wou, K, Kuzminsky, A, Monfort, S, Weiss, M, Doyle, S, Iglesias, A, Martinez, F, Mckenzie, F, Orellana, C, van Gassen, KLI, Palomares, M, Bazak, L, Lee, A, Bircher, A, Basel-Vanagaite, L, Hafstrom, M, Houge, G, Goldstein, DB, Anyane-Yeboa, K, C4RCD Res Grp, DDD Study
المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: mastocytosis, developmental disabilities, hypotonia, GNB1, seizures, whole exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::486bbe5121f9c60837d0c3c89ca039a5Test
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=10064Test -
8دورية أكاديمية
المؤلفون: Fregeau, B., Kim, B.J., Hernandez-Garcia, A., Jordan, V.K., Cho, M.T., Schnur, R.E., Monaghan, K.G., Juusola, J., Rosenfeld, J.A., Bhoj, E., Zackai, E.H., Sacharow, S., Baranano, K., Bosch, D.G.M., Vries, B.B.A. de, Lindstrom, K., Schroeder, A., James, P., Kulch, P., Lalani, S.R., Haelst, M.M. van, Gassen, K.L. van, Binsbergen, E. van, Barkovich, A.J., Scott, D.A., Sherr, E.H.
المصدر: American Journal of Human Genetics, 98, 5, pp. 963-70
مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
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9دورية أكاديمية
المؤلفون: Hedges, D J, Hamilton-Nelson, K L, Sacharow, S J, Nations, L, Beecham, G W, Kozhekbaeva, Z M, Butler, B L, Cukier, H N, Whitehead, P L, Ma, D, Jaworski, J M, Nathanson, Lubov, Lee, J M, Hauser, S L, Oksenberg, J R, Cuccaro, M L, Haines, J L, Gilbert, J R, Pericak-Vance, M A
المصدر: Faculty Articles
مصطلحات موضوعية: Medical Specialties, Medicine and Health Sciences, Osteopathic Medicine and Osteopathy
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10دورية أكاديمية
المؤلفون: Salyakina, D., Ma, D.Q., Jaworski, J.M., Konidari, I., Whitehead, P.L., Henson, R., Martinez, D., Robinson, J.L., Sacharow, S., Wright, H.H., Abramson, R.K., Gilbert, J.R., Cuccaro, M.L., Pericak‐Vance, M.A.
المصدر: Autism Research ; volume 3, issue 6, page 303-310 ; ISSN 1939-3792 1939-3806
الإتاحة: https://doi.org/10.1002/aur.158Test
