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1دورية أكاديمية
المؤلفون: Pomar, L., Rieder, W., Dubruc, E., Giuliano, F., Atallah, I., Lebon, S., Vial, Y.
المصدر: Fetal diagnosis and therapy, vol. 50, no. 2, pp. 92-97
مصطلحات موضوعية: Female, Pregnancy, Humans, Micrognathism/diagnostic imaging, Cerebellum, Craniofacial Abnormalities/diagnostic imaging, Craniofacial Abnormalities/genetics, Alopecia/diagnosis, Alopecia/genetics, Prenatal Diagnosis, Gómez-López-Hernández syndrome, Neurosonography, Rhombencephalosynapsis, Ventriculomegaly
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37062278; info:eu-repo/semantics/altIdentifier/eissn/1421-9964; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D371237FF86F4; https://serval.unil.ch/notice/serval:BIB_D371237FF86FTest; urn:issn:1015-3837; https://serval.unil.ch/resource/serval:BIB_D371237FF86F.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D371237FF86F4Test
الإتاحة: https://doi.org/10.1159/000530643Test
https://serval.unil.ch/notice/serval:BIB_D371237FF86FTest
https://serval.unil.ch/resource/serval:BIB_D371237FF86F.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D371237FF86F4Test -
2دورية أكاديمية
المؤلفون: Courraud, J., Engel, C., Quartier, A., Drouot, N., Houessou, U., Plassard, D., Sorlin, A., Brischoux-Boucher, E., Gouy, E., Van Maldergem, L., Rossi, M., Lesca, G., Edery, P., Putoux, A., Bilan, F., Gilbert-Dussardier, B., Atallah, I., Kalscheuer, V., Mandel, J., Piton, A.
المصدر: Molecular Psychiatry
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38030819; http://hdl.handle.net/21.11116/0000-000E-1F21-BTest; http://hdl.handle.net/21.11116/0000-000E-1F23-9Test
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3دورية أكاديمية
المؤلفون: Loberti, L. (Lorenzo), Bruno, L. P. (Lucia Pia), Granata, S. (Stefania), Doddato, G. (Gabriella), Resciniti, S. (Sara), Fava, F. (Francesca), Carullo, M. (Michele), Rahikkala, E. (Elisa), Jouret, G. (Guillaume), Menke, L. A. (Leonie A.), Lederer, D. (Damien), Vrielynck, P. (Pascal), Ryba, L. (Lukáš), Brunetti-Pierri, N. (Nicola), Lasa-Aranzasti, A. (Amaia), Cueto-González, A. M. (Anna Maria), Trujillano, L. (Laura), Valenzuela, I. (Irene), Tizzano, E. F. (Eduardo F.), Spinelli, A. M. (Alessandro Mauro), Bruno, I. (Irene), Currò, A. (Aurora), Stanzial, F. (Franco), Benedicenti, F. (Francesco), Lopergolo, D. (Diego), Santorelli, F. M. (Filippo Maria), Aristidou, C. (Constantia), Tanteles, G. A. (George A.), Maystadt, I. (Isabelle), Tkemaladze, T. (Tinatin), Reimand, T. (Tiia), Lokke, H. (Helen), Õunap, K. (Katrin), Haanpää, M. K. (Maria K.), Holubová, A. (Andrea), Zoubková, V. (Veronika), Schwarz, M. (Martin), Žordania, R. (Riina), Muru, K. (Kai), Roht, L. (Laura), Tihveräinen, A. (Annika), Teek, R. (Rita), Thomson, U. (Ulvi), Atallah, I. (Isis), Superti-Furga, A. (Andrea), Buoni, S. (Sabrina), Canitano, R. (Roberto), Scandurra, V. (Valeria), Rossetti, A. (Annalisa), Grosso, S. (Salvatore), Battini, R. (Roberta), Baldassarri, M. (Margherita), Mencarelli, M. A. (Maria Antonietta), Lo Rizzo, C. (Caterina), Bruttini, M. (Mirella), Mari, F. (Francesca), Ariani, F. (Francesca), Renieri, A. (Alessandra), Pinto, A. M. (Anna Maria)
وصف الملف: application/pdf
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4دورية أكاديمية
المؤلفون: Redin, C., Pavlidou, D.C., Bhuiyan, Z., Porretta, A.P., Monney, P., Bedoni, N., Maurer, F., Sekarski, N., Atallah, I., Émeline, D., Jeanrenaud, X., Pruvot, E., Fellay, J., Superti-Furga, A.
المصدر: European journal of medical genetics, vol. 65, no. 12, pp. 104627
مصطلحات موضوعية: Adult, Humans, Infant, Newborn, Switzerland, Carrier Proteins/genetics, Cardiomyopathy, Hypertrophic/genetics, Mutation, Heterozygote, Cytoskeletal Proteins/genetics, Founder variant, MYBPC3, hypertrophic cardiomyopathy, Phasing
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36162733; info:eu-repo/semantics/altIdentifier/eissn/1878-0849; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_36267BDE9D6F0; https://serval.unil.ch/notice/serval:BIB_36267BDE9D6FTest; urn:issn:1769-7212; https://serval.unil.ch/resource/serval:BIB_36267BDE9D6F.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_36267BDE9D6F0Test
الإتاحة: https://doi.org/10.1016/j.ejmg.2022.104627Test
https://serval.unil.ch/notice/serval:BIB_36267BDE9D6FTest
https://serval.unil.ch/resource/serval:BIB_36267BDE9D6F.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_36267BDE9D6F0Test -
5دورية أكاديمية
المؤلفون: Galosi, S., Edani, B.H., Martinelli, S., Hansikova, H., Eklund, E.A., Caputi, C., Masuelli, L., Corsten-Janssen, N., Srour, M., Oegema, R., Bosch, DGM, Ellis, C.A., Amlie-Wolf, L., Accogli, A., Atallah, I., Averdunk, L., Barañano, K.W., Bei, R., Bagnasco, I., Brusco, A., Demarest, S., Alaix, A.S., Di Bonaventura, C., Distelmaier, F., Elmslie, F., Gan-Or, Z., Good, J.M., Gripp, K., Kamsteeg, E.J., Macnamara, E., Marcelis, C., Mercier, N., Peeden, J., Pizzi, S., Pannone, L., Shinawi, M., Toro, C., Verbeek, N.E., Venkateswaran, S., Wheeler, P.G., Zdrazilova, L., Zhang, R., Zorzi, G., Guerrini, R., Sessa, W.C., Lefeber, D.J., Tartaglia, M., Hamdan, F.F., Grabińska, K.A., Leuzzi, V.
المصدر: Brain, vol. 145, no. 1, pp. 208-223
مصطلحات موضوعية: Alkyl and Aryl Transferases, Child, Dolichols/metabolism, Humans, Myoclonus, Neurodegenerative Diseases/genetics, Retinitis Pigmentosa/genetics, congenital disorders of glycosylation, dolichol, movement disorder, myoclonus epilepsy, neurodegenerative disorder
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34382076; info:eu-repo/semantics/altIdentifier/eissn/1460-2156; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_49C7D80FE3EC1; https://serval.unil.ch/notice/serval:BIB_49C7D80FE3ECTest; urn:issn:0006-8950; https://serval.unil.ch/resource/serval:BIB_49C7D80FE3EC.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_49C7D80FE3EC1Test
الإتاحة: https://doi.org/10.1093/brain/awab299Test
https://serval.unil.ch/notice/serval:BIB_49C7D80FE3ECTest
https://serval.unil.ch/resource/serval:BIB_49C7D80FE3EC.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_49C7D80FE3EC1Test -
6دورية أكاديمية
المؤلفون: Loberti, L., Bruno, L.P., Granata, S., Doddato, G., Resciniti, S., Fava, F., Carullo, M., Rahikkala, E., Jouret, G., Menke, L.A., Lederer, D., Vrielynck, P., Ryba, L., Brunetti-Pierri, N., Lasa-Aranzasti, A., Cueto-González, A.M., Trujillano, L., Valenzuela, I., Tizzano, E.F., Spinelli, A.M., Bruno, I., Currò, A., Stanzial, F., Benedicenti, F., Lopergolo, D., Santorelli, F.M., Aristidou, C., Tanteles, G.A., Maystadt, I., Tkemaladze, T., Reimand, T., Lokke, H., Õunap, K., Haanpää, M.K., Holubová, A., Zoubková, V., Schwarz, M., Žordania, R., Muru, K., Roht, L., Tihveräinen, A., Teek, R., Thomson, U., Atallah, I., Superti-Furga, A., Buoni, S., Canitano, R., Scandurra, V., Rossetti, A., Grosso, S., Battini, R., Baldassarri, M., Mencarelli, M.A., Rizzo, C.L., Bruttini, M., Mari, F., Ariani, F., Renieri, A., Pinto, A.M.
المصدر: Human molecular genetics, vol. 31, no. 24, pp. 4131-4142
مصطلحات موضوعية: Pregnancy, Female, Humans, Facies, Tooth Abnormalities/genetics, Bone Diseases, Developmental/genetics, Abnormalities, Multiple/genetics, Multiple/diagnosis, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Comparative Genomic Hybridization, Repressor Proteins/genetics, Phenotype, Dwarfism/genetics, European People
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35861666; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CD40BBEC41D30; https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3Test; urn:issn:0964-6906; https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD40BBEC41D30Test
الإتاحة: https://doi.org/10.1093/hmg/ddac167Test
https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3Test
https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD40BBEC41D30Test -
7دورية أكاديمية
المؤلفون: Atallah, I., McCormick, D., Good, J.M., Barigou, M., Fraga, M., Sempoux, C., Superti-Furga, A., Semple, R.K., Tran, C.
المصدر: Journal of clinical lipidology, vol. 16, no. 5, pp. 583-590
مصطلحات موضوعية: Female, Humans, Adult, Werner Syndrome/diagnosis, Werner Syndrome/genetics, Werner Syndrome/complications, Werner Syndrome Helicase/genetics, Werner Syndrome Helicase/metabolism, RecQ Helicases/genetics, RecQ Helicases/metabolism, Exodeoxyribonucleases/genetics, Exodeoxyribonucleases/metabolism, Lipodystrophy, Diabetes Mellitus/diagnosis, Diabetes Mellitus/genetics, Insulin Resistance/genetics, Dyslipidemias/complications, Dyslipidemias/diagnosis, Dyslipidemias/genetics, Insulins/metabolism, Diabetes, Dyslipidaemia, Exome, Helicase, Liver steatosis, Partial lipodystrophy, Werner syndrome
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35780059; info:eu-repo/semantics/altIdentifier/pissn/1933-2874; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E5FCC361A2476; https://serval.unil.ch/notice/serval:BIB_E5FCC361A247Test; urn:issn:1876-4789; https://serval.unil.ch/resource/serval:BIB_E5FCC361A247.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5FCC361A2476Test
الإتاحة: https://doi.org/10.1016/j.jacl.2022.06.004Test
https://serval.unil.ch/notice/serval:BIB_E5FCC361A247Test
https://serval.unil.ch/resource/serval:BIB_E5FCC361A247.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5FCC361A2476Test -
8دورية أكاديمية
المؤلفون: Good, J.M., Atallah, I., Castro Jimenez, M., Benninger, D., Kuntzer, T., Superti-Furga, A., Tran, C.
المصدر: Genes, vol. 12, no. 5, pp. 695
مصطلحات موضوعية: ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics, Adrenoleukodystrophy/diagnosis, Adrenoleukodystrophy/genetics, Adult, Carbohydrate Metabolism, Inborn Errors/diagnosis, Inborn Errors/genetics, Cholestanetriol 26-Monooxygenase/genetics, Female, Genetic Testing/methods, Glucose Transporter Type 1/genetics, High-Throughput Nucleotide Sequencing/methods, Humans, Male, Middle Aged, Monosaccharide Transport Proteins/deficiency, Monosaccharide Transport Proteins/genetics, Sequence Analysis, DNA/methods, Xanthomatosis, Cerebrotendinous/diagnosis, Cerebrotendinous/genetics, X-linked adrenoleukodystrophy, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency syndrome, neurogenetic disorders, next-generation sequencing (NGS), treatable diseases
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34066437; info:eu-repo/semantics/altIdentifier/eissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_EF75CA328A1A1; https://serval.unil.ch/notice/serval:BIB_EF75CA328A1ATest; urn:issn:2073-4425; https://serval.unil.ch/resource/serval:BIB_EF75CA328A1A.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_EF75CA328A1A1Test
الإتاحة: https://doi.org/10.3390/genes12050695Test
https://serval.unil.ch/notice/serval:BIB_EF75CA328A1ATest
https://serval.unil.ch/resource/serval:BIB_EF75CA328A1A.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_EF75CA328A1A1Test -
9دورية أكاديمية
المؤلفون: Giraud, L., Wuyam, B., Destors, M., Atallah, I.
المصدر: European Annals of Otorhinolaryngology, Head and Neck Diseases ; volume 138, issue 6, page 479-482 ; ISSN 1879-7296
مصطلحات موضوعية: Otorhinolaryngology, Surgery
الإتاحة: https://doi.org/10.1016/j.anorl.2021.02.005Test
https://api.elsevier.com/content/article/PII:S1879729621000235?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1879729621000235?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Giraud, L., Wuyam, B., Destors, M., Atallah, I.
المصدر: Annales françaises d'Oto-rhino-laryngologie et de Pathologie Cervico-faciale ; volume 138, issue 6, page 478-481 ; ISSN 1879-7261
مصطلحات موضوعية: Otorhinolaryngology, Surgery
الإتاحة: https://doi.org/10.1016/j.aforl.2020.12.003Test
https://api.elsevier.com/content/article/PII:S1879726121000322?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1879726121000322?httpAccept=text/plainTest
النص الكامل