المؤلفون: Beninca C., Zanette V., Brischigliaro M., Johnson M., Reyes A., Valle D. A. D., J. Robinson A., Degiorgi A., Yeates A., Telles B. A., Prudent J., Baruffini E., S. F. Santos M. L., R. De Souza R. L., Fernandez-Vizarra E., J. Whitworth A., Zeviani M.

المساهمون: Beninca, C., Zanette, V., Brischigliaro, M., Johnson, M., Reyes, A., Valle, D. A. D., J. Robinson, A., Degiorgi, A., Yeates, A., Telles, B. A., Prudent, J., Baruffini, E., S. F. Santos M., L., R. De Souza R., L., Fernandez-Vizarra, E., J. Whitworth, A., Zeviani, M.

مصطلحات موضوعية: clinical genetic, genetic, metabolic disorder, neuromuscular disease

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000624069700002; volume:58; firstpage:155; lastpage:167; numberofpages:13; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11381/2877319Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085681032; https://jmg.bmj.com/content/jmedgenet/early/2020/05/21/jmedgenet-2020-106861.full.pdfTest

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-106861Test
http://hdl.handle.net/11381/2877319Test
https://jmg.bmj.com/content/jmedgenet/early/2020/05/21/jmedgenet-2020-106861.full.pdfTest

المؤلفون: de Lange, Iris M, Helbig, Katherine L., Weckhuysen, Sarah, Møller, Rikke S., Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C., Myers, Candace T., van Paesschen, Wim, STRIANO, PASQUALE, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G. F., Piard, Juliette, Minassian, Berge A., Nezarati, Marjan M., Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van 't Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H., Koeleman, Bobby P. C., Craiu, Dana, Davila, Carol, Obregia, Alexandru, De Jonghe, Peter, Guerrini, Renzo, Lehesjoki, Anna Elina, Marini, Carla, Muhle, Hiltrud, Neubauer, Bernd, Pal, Deb, Selmer, Kaja, Stephani, Ulrich, Sterbova, Katalin, Talvik, Tiina, von Spiczak, Sarah, Caglayan, Hande, Weber, Yvonne, Hoffman Zacharska, Dorota

المساهمون: de Lange, Iris M, Helbig, Katherine L., Weckhuysen, Sarah, Møller, Rikke S., Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C., Myers, Candace T., van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G. F., Piard, Juliette, Minassian, Berge A., Nezarati, Marjan M., Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van 't Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H., Koeleman, Bobby P. C., Craiu, Dana, Davila, Carol, Obregia, Alexandru, De Jonghe, Peter, Guerrini, Renzo, Lehesjoki, Anna Elina, Marini, Carla, Muhle, Hiltrud, Neubauer, Bernd, Pal, Deb, Selmer, Kaja, Stephani, Ulrich, Sterbova, Katalin, Talvik, Tiina, von Spiczak, Sarah, Caglayan, Hande, Weber, Yvonne, Hoffman Zacharska, Dorota

مصطلحات موضوعية: KIAA2022, Clinical genetic, Epilepsy and seizure, X-linked, Genetic, Genetics (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27358180; info:eu-repo/semantics/altIdentifier/wos/WOS:000391457200010; volume:53; firstpage:850-858; lastpage:858; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11567/854841Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84978982755

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-103909Test
http://hdl.handle.net/11567/854841Test

المؤلفون: Morbidoni V., Agolini E., Slep K. C., Pannone L., Zuccarello D., Cassina M., Grosso E., Gai G., Salviati L., Dallapiccola B., Novelli A., Martinelli S., Trevisson E.

المساهمون: Morbidoni, V., Agolini, E., Slep, K. C., Pannone, L., Zuccarello, D., Cassina, M., Grosso, E., Gai, G., Salviati, L., Dallapiccola, B., Novelli, A., Martinelli, S., Trevisson, E.

مصطلحات موضوعية: clinical genetic, developmental, molecular genetics

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32747439; info:eu-repo/semantics/altIdentifier/wos/WOS:000680408300003; firstpage:jmedgenet-2020-106833; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/3355893Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089395685

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-106833Test
http://hdl.handle.net/11577/3355893Test

المؤلفون: Beninca C., Zanette V., Brischigliaro M., Johnson M., Reyes A., Valle D. A. D., J. Robinson A., Degiorgi A., Yeates A., Telles B. A., Prudent J., Baruffini E., S. F. Santos M. L., R. De Souza R. L., Fernandez-Vizarra E., J. Whitworth A., Zeviani M.

المساهمون: Beninca, C., Zanette, V., Brischigliaro, M., Johnson, M., Reyes, A., Valle, D. A. D., J. Robinson, A., Degiorgi, A., Yeates, A., Telles, B. A., Prudent, J., Baruffini, E., S. F. Santos M., L., R. De Souza R., L., Fernandez-Vizarra, E., J. Whitworth, A., Zeviani, M.

مصطلحات موضوعية: clinical genetic, genetic, metabolic disorder, neuromuscular disease

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32439808; info:eu-repo/semantics/altIdentifier/wos/WOS:000624069700002; firstpage:jmedgenet-2020-106861; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/3354159Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085681032

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-106861Test
http://hdl.handle.net/11577/3354159Test

المؤلفون: Spagnolo, Paolo, Cottin, Vincent

المساهمون: Spagnolo, Paolo, Cottin, Vincent

مصطلحات موضوعية: Clinical genetic, Diffuse parenchymal lung disease, Genetic screening/counselling, Genetic, Genetic Variation, Genomic, Genotype, Human, Idiopathic Pulmonary Fibrosi, Genetic Predisposition to Disease, Precision Medicine, Genetics (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28011761; info:eu-repo/semantics/altIdentifier/wos/WOS:000395523600004; volume:54; issue:2; firstpage:73; lastpage:83; numberofpages:11; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/3276307Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85007560243; http://jmg.bmj.com/content/by/yearTest

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-103973Test
http://hdl.handle.net/11577/3276307Test
http://jmg.bmj.com/content/by/yearTest

المؤلفون: Severino, M, BERTAMINO, MARTA, Tortora, D, Morana, G, Uccella, S, BOCCIARDI, RENATA, RAVAZZOLO, ROBERTO, Rossi, A, Di Rocco, M.

المساهمون: Severino, M, Bertamino, Marta, Tortora, D, Morana, G, Uccella, S, Bocciardi, Renata, Ravazzolo, Roberto, Rossi, A, Di Rocco, M.

مصطلحات موضوعية: Brain MRI, Clinical genetic, Diagnostic, Fibrodysplasia Ossificans Progressiva, Activin Receptors, Type I, Adolescent, Adult, Central Nervous System, Child, Cross-Sectional Studie, Female, Human, Magnetic Resonance Imaging, Male, Middle Aged, Myositis Ossifican, Young Adult, Mutation, Missense

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27565519; info:eu-repo/semantics/altIdentifier/wos/WOS:000391457200011; volume:53; firstpage:859; lastpage:864; numberofpages:6; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11567/858693Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84984622427

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-104076Test
http://hdl.handle.net/11567/858693Test

المؤلفون: Valentina Fodale, Viviana Caputo, Chiara Leoni, Andrea Ciolfi, Daniela Melis, Marco Tartaglia, Giuseppe Zampino, Laura Mazzanti, Antonio Pizzuti, Maria Francesca Bedeschi, Elisabetta Flex

المساهمون: Flex, Elisabetta, Ciolfi, Andrea, Caputo, Viviana, Fodale, Valentina, Leoni, Chiara, Melis, Daniela, Bedeschi, Maria Francesca, Mazzanti, Laura, Pizzuti, Antonio, Tartaglia, Marco, Zampino, Giuseppe

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: Male, Ubiquitin-Protein Ligase, Microcephaly, Optic disk, Telecanthus, TUMOR-SUPPRESSOR GENE, PHENOTYPE, Kaufman oculocerebrofacial syndrome, Congenital, Diagnosis, Developmental, Exome, Genome-wide, Molecular genetics, Eye Abnormalities, Child, Author Keywords:Clinical genetics, Molecular genetics KeyWords Plus:JUVENILE MYELOMONOCYTIC LEUKEMIA, DNA-SEQUENCING DATA, GERMLINE MUTATIONS, ANGELMAN SYNDROME, IDENTIFICATION, DELINEATION, DEFICIENCY, EXPRESSION, Genetics (clinical), Exome sequencing, Genetics, Sanger sequencing, Homozygote, Hypotonia, Pedigree, Limb Deformities, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, clinical genetics, diagnosis, developmental, molecular genetics, genome-wide, symbols, Female, New Disease Loci, medicine.symptom, Diagnosi, Human, Clinical genetic, Ubiquitin-Protein Ligases, Molecular Sequence Data, Limb Deformities, Congenital, Biology, symbols.namesake, Genetic, Intellectual Disability, medicine, Humans, Clinical genetics, Base Sequence, Facies, medicine.disease, Facie, Protein ubiquitination, Eye Abnormalitie, Mutation, Molecular genetic

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d301ee366c85b12605f6f6f4cad004Test
http://europepmc.org/articles/PMC3717725Test

المؤلفون: E. Flex, V. Fodale, C. Leoni, D. Melis, M. F. Bedeschi, L. Mazzanti, M. Tartaglia, G. Zampino, CIOLFI, ANDREA, CAPUTO, VIVIANA, PIZZUTI, Antonio

المساهمون: E., Flex, Ciolfi, Andrea, Caputo, Viviana, V., Fodale, C., Leoni, D., Meli, M. F., Bedeschi, L., Mazzanti, Pizzuti, Antonio, M., Tartaglia, G., Zampino

مصطلحات موضوعية: clinical genetic, diagnosi, developmental, molecular genetic, genome-wide

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23687348; info:eu-repo/semantics/altIdentifier/wos/WOS:000322123200001; volume:50; issue:8; firstpage:493; lastpage:499; numberofpages:7; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11573/516432Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84883199248; http://jmg.bmj.com/content/50/8/493.longTest

الإتاحة: https://doi.org/10.1136/jmedgenet-2012-101405Test
http://hdl.handle.net/11573/516432Test
http://jmg.bmj.com/content/50/8/493.longTest