يعرض 1 - 10 نتائج من 378 نتيجة بحث عن '"Faletra F."', وقت الاستعلام: 0.71s تنقيح النتائج
  1. 1
    دورية أكاديمية
    SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

    المؤلفون: Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Hernandez-Garcia, A, Pedace, L, Pantaleoni, F, Liu, ZD, de Boer, E, Jackson, A, Bruselles, A, McConkey, H, Stellacci, E, Lo Cicero, S, Motta, M, Carrozzo, R, Dentici, ML, McWalter, K, Desai, M, Monaghan, KG, Telegrafi, A, Philippe, C, Vitobello, A, Au, M, Grand, K, Sanchez-Lara, PA, Baez, J, Lindstrom, K, Kulch, P, Sebastian, J, Madan-Khetarpal, S, Roadhouse, C, MacKenzie, JJ, Monteleone, B, Saunders, CJ, Cuevas, JKJ, Cross, L, Zhou, DH, Hartley, T, Sawyer, SL, Monteiro, FP, Secches, TV, Kok, F, Schultz-Rogers, LE, Macke, EL, Morava, E, Klee, EW, Kemppainen, J, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Pais, L, Gallacher, L, Turnpenny, PD, Stals, K, Ellard, S, Cabet, S, Lesca, G, Pascal, J, Steindl, K, Ravid, S, Weiss, K, Castle, AMR, Carter, MT, Kalsner, L, de Vries, BBA, van Bon, BW, Wevers, MR, Pfundt, R, Stegmann, APA, Kerr, B, Kingston, HM, Chandler, KE, Sheehan, W, Elias, AF, Shinde, DN, Towne, MC, Robin, NH, Goodloe, D, Vanderver, A, Sherbini, O, Bluske, K, Hagelstrom, RT, Zanus, C, Faletra, F, Musante, L, Kurtz-Nelson, EC, Earl, RK, Anderlid, BM, Morin, G, van Slegtenhorst, M, Diderich, KEM, Brooks, AS, Gribnau, J, Boers, RG, Finestra, TR, Carter, LB, Rauch, A, Gasparini, P, Boycott, KM, Barakat, TS, Graham, JM, Faivre, L, Banka, S, Wang, TY, Eichler, EE, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B, Scott, DA, Holder, JL, Tartaglia, M

    المصدر: American journal of human genetics. 108(3):502-516

    مصطلحات موضوعية: Medicin och hälsovetenskap

    الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:146295590Test

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  2. 2
    دورية أكاديمية
    Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis

    المؤلفون: Persico I., Feresin A., Faleschini M., Fontana G., Sirchia F., Faletra F., La Bianca M., Suergiu S., Morgutti M., Maschio M., D'Adamo A. P., Raraigh K., Savoia A., Bottega R.

    المساهمون: Persico, I., Feresin, A., Faleschini, M., Fontana, G., Sirchia, F., Faletra, F., La Bianca, M., Suergiu, S., Morgutti, M., Maschio, M., D'Adamo, A. P., Raraigh, K., Savoia, A., Bottega, R.

    مصطلحات موضوعية: CFTR gene, complex allele, cystic fibrosi, deletion, molecular diagnosis

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35348309; info:eu-repo/semantics/altIdentifier/wos/WOS:000780937400001; volume:10; issue:6; firstpage:"-"; lastpage:"-"; numberofpages:6; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11368/3019191Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127256716; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184661Test/

    الإتاحة: https://doi.org/10.1002/mgg3.1926Test
    http://hdl.handle.net/11368/3019191Test
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184661Test/

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  3. 3
    دورية أكاديمية
    There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

    المؤلفون: Morgan A., Faletra F., Severi G., La Bianca M., Licchetta L., Gasparini P., Graziano C., Girotto G.

    المساهمون: Morgan, A., Faletra, F., Severi, G., La Bianca, M., Licchetta, L., Gasparini, P., Graziano, C., Girotto, G.

    مصطلحات موضوعية: Dual molecular diagnosi, Hereditary hearing lo, Whole-exome sequencing

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35052694; info:eu-repo/semantics/altIdentifier/wos/WOS:000749799600001; volume:10; issue:1; firstpage:"-"; lastpage:"-"; numberofpages:12; journal:BIOMEDICINES; http://hdl.handle.net/11368/3010905Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122270055; https://www.mdpi.com/2227-9059/10/1/12Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773038Test/

    الإتاحة: https://doi.org/10.3390/biomedicines10010012Test
    http://hdl.handle.net/11368/3010905Test
    https://www.mdpi.com/2227-9059/10/1/12Test
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773038Test/

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  4. 4
    دورية أكاديمية
    A child without kneecaps

    المؤلفون: Baldo F., Magnolato A., Bruno I., Faletra F., Carbone M., Barbi E.

    المساهمون: Baldo, F., Magnolato, A., Bruno, I., Faletra, F., Carbone, M., Barbi, E.

    مصطلحات موضوعية: Kneecap, nail-patella syndrome, children

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33961326; info:eu-repo/semantics/altIdentifier/wos/WOS:000648025300001; volume:58/2022; issue:3; firstpage:550; lastpage:550; numberofpages:1; journal:JOURNAL OF PAEDIATRICS AND CHILD HEALTH; https://hdl.handle.net/11368/3026170Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105647593

    الإتاحة: https://doi.org/10.1111/jpc.15519Test
    https://hdl.handle.net/11368/3026170Test

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  5. 5
    دورية أكاديمية
    Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

    المؤلفون: Orsini A., Santangelo A., Bravin F., Bonuccelli A., Peroni D., Battini R., Foiadelli T., Bertini V., Valetto A., Iacomino M., Nigro V., Torella A. L., Scala M., Capra V., Vari M. S., Fetta A., Di Pisa V., Montanari F., Epifanio R., Bonanni P., Giorda R., Operto F., Pastorino G., Sarigecili E., Sardaroglu E., Okuyaz C., Bozdogan S., Musante L., Faletra F., Zanus C., Ferretti A., Vigevano F., Striano P., Cordelli D. M.

    المساهمون: Orsini, A., Santangelo, A., Bravin, F., Bonuccelli, A., Peroni, D., Battini, R., Foiadelli, T., Bertini, V., Valetto, A., Iacomino, M., Nigro, V., Torella, A. L., Scala, M., Capra, V., Vari, M. S., Fetta, A., Di Pisa, V., Montanari, F., Epifanio, R., Bonanni, P., Giorda, R., Operto, F., Pastorino, G., Sarigecili, E., Sardaroglu, E., Okuyaz, C., Bozdogan, S., Musante, L., Faletra, F., Zanus, C., Ferretti, A., Vigevano, F., Striano, P., Cordelli, D. M.

    مصطلحات موضوعية: CSNK2B, Epilepsy, Neurodevelopment, Pobind, Seizure

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35205321; info:eu-repo/semantics/altIdentifier/wos/WOS:000763276000001; volume:13; firstpage:276; lastpage:290; numberofpages:15; journal:GENES; http://hdl.handle.net/11567/1075538Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124084248

    الإتاحة: https://doi.org/10.3390/genes13020276Test
    http://hdl.handle.net/11567/1075538Test

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  6. 6
    دورية أكاديمية
    GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

    المؤلفون: Bottega R., Marzollo A., Marinoni M., Athanasakis E., Persico I., Bianco A. M., Faleschini M., Valencic E., Simoncini D., Rossini L., Corsolini F., La Bianca M., Robustelli G., Gabelli M., Agosti M., Biffi A., Grotto P., Bozzi V., Noris P., Burlina A. B., d'Adamo A. P., Tommasini A., Faletra F., Pastore A., Savoia A.

    المساهمون: Bottega, R., Marzollo, A., Marinoni, M., Athanasakis, E., Persico, I., Bianco, A. M., Faleschini, M., Valencic, E., Simoncini, D., Rossini, L., Corsolini, F., La Bianca, M., Robustelli, G., Gabelli, M., Agosti, M., Biffi, A., Grotto, P., Bozzi, V., Noris, P., Burlina, A. B., D'Adamo, A. P., Tommasini, A., Faletra, F., Pastore, A., Savoia, A.

    مصطلحات موضوعية: GNE-related thrombocytopenia, GNE mutations

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34788986; info:eu-repo/semantics/altIdentifier/wos/WOS:000964438900001; volume:107; issue:3; firstpage:750; lastpage:754; numberofpages:5; journal:HAEMATOLOGICA; http://hdl.handle.net/11368/3014458Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122445699; https://haematologica.org/article/view/haematol.2021.279689Test

    الإتاحة: https://doi.org/10.3324/haematol.2021.279689Test
    http://hdl.handle.net/11368/3014458Test
    https://haematologica.org/article/view/haematol.2021.279689Test

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  7. 7
    دورية أكاديمية
    TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

    المؤلفون: Musante, L, Faletra, F, Meier, K, Tomoum, H, Najarzadeh Torbati, P, Blair, E, North, S, Gärtner, J, Diegmann, S, Beiraghi Toosi, M, Ashrafzadeh, F, Ghayoor Karimiani, E, Murphy, D, Murru, FM, Zanus, C, Magnolato, A, La Bianca, M, Feresin, A, Girotto, G, Gasparini, P, Costa, P, Carrozzi, M

    وصف الملف: application/pdf; application/vnd.ms-excel

    العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114790/1/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202022%20-%20Musante%20-%20TTC5%20syndrome%20Clinical%20and%20molecular%20spectrum%20of%20a%20severe%20and.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114790/6/ajmga62852-sup-0001-tables.xlsxTest; Musante, L; Faletra, F; Meier, K; Tomoum, H; Najarzadeh Torbati, P; Blair, E; North, S; Gärtner, J; Diegmann, S; Beiraghi Toosi, M; et al. Musante, L; Faletra, F; Meier, K; Tomoum, H; Najarzadeh Torbati, P; Blair, E; North, S; Gärtner, J; Diegmann, S; Beiraghi Toosi, M; Ashrafzadeh, F; Ghayoor Karimiani, E; Murphy, D; Murru, FM; Zanus, C; Magnolato, A; La Bianca, M; Feresin, A; Girotto, G; Gasparini, P; Costa, P; Carrozzi, M (2022) TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition. Am J Med Genet A, 188 (9). pp. 2652-2665. ISSN 1552-4833 https://doi.org/10.1002/ajmg.a.62852Test SGUL Authors: Karimiani, Ehsan Ghayoor

    الإتاحة: https://doi.org/10.1002/ajmg.a.62852Test
    https://openaccess.sgul.ac.uk/id/eprint/114790Test/
    https://openaccess.sgul.ac.uk/id/eprint/114790/1/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202022%20-%20Musante%20-%20TTC5%20syndrome%20Clinical%20and%20molecular%20spectrum%20of%20a%20severe%20and.pdfTest
    https://openaccess.sgul.ac.uk/id/eprint/114790/6/ajmga62852-sup-0001-tables.xlsxTest

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  8. 8
    دورية أكاديمية
    Additional value of CMR feature tracking parameters for the evaluation of the risk of complex ventricular arrhythmias and sudden cardiac death in patients with Mitral Valve Prolapse

    المؤلفون: Pavon, A, Guglielmo, M, Arangalage, D, Bonanni, M, Angelini, G, Paiocchi, V, Leo, L, Valgimigli, M, Pedrazzini, G, Pontone, G, Monney, P, Faletra, F

    المصدر: European Heart Journal - Cardiovascular Imaging ; volume 23, issue Supplement_1 ; ISSN 2047-2404 2047-2412

    مصطلحات موضوعية: Cardiology and Cardiovascular Medicine, Radiology, Nuclear Medicine and imaging, General Medicine

    الإتاحة: https://doi.org/10.1093/ehjci/jeab289.372Test
    https://academic.oup.com/ehjcimaging/article-pdf/23/Supplement_1/jeab289.372/42395698/jeab289.372.pdfTest

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  9. 9
    دورية أكاديمية
    Multimodality imaging in the evaluation of left ventricle myocardial deformation determined by edema and scar in acute myocarditis

    المؤلفون: Angelini, G, Bonanni, M, Paiocchi, VL, Leo, LA, Schlossbauer, S, Pasotti, E, Pedrazzini, G, Valgimigli, M, Favale, S, Forleo, C, Pavon, AG, Faletra, F

    المصدر: European Heart Journal - Cardiovascular Imaging ; volume 23, issue Supplement_1 ; ISSN 2047-2404 2047-2412

    مصطلحات موضوعية: Cardiology and Cardiovascular Medicine, Radiology, Nuclear Medicine and imaging, General Medicine

    الإتاحة: https://doi.org/10.1093/ehjci/jeab289.439Test
    https://academic.oup.com/ehjcimaging/article-pdf/23/Supplement_1/jeab289.439/42394648/jeab289.439.pdfTest

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  10. 10
    دورية أكاديمية
    Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis

    المؤلفون: Sirchia F., Fantasia I., Feresin A., Giorgio E., Faletra F., Mordeglia D., Barbieri M., Guida V., De Luca A., Stampalija T.

    المساهمون: Sirchia, F., Fantasia, I., Feresin, A., Giorgio, E., Faletra, F., Mordeglia, D., Barbieri, M., Guida, V., De Luca, A., Stampalija, T.

    مصطلحات موضوعية: Arthrogryposi, Case report, COFS3, ERCC5 gene, Fetal growth restriction

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33766032; info:eu-repo/semantics/altIdentifier/wos/WOS:000635182500001; volume:14; issue:1; firstpage:"-"; lastpage:"-"; numberofpages:6; journal:BMC MEDICAL GENOMICS; http://hdl.handle.net/11368/2992819Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103147103; https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-021-00939-6Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7992958Test/

    الإتاحة: https://doi.org/10.1186/s12920-021-00939-6Test
    http://hdl.handle.net/11368/2992819Test
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7992958Test/

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