المؤلفون: Anna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, Gabriele Trimarchi, Manuela Napoli, Daniele Frattini, Carlotta Spagnoli, Livia Garavelli, Carlo Fusco

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: TAOK1, Periventricular nodular heterotopia, PVNH, PNH, Neuronal migration disorders, Macrocephaly, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/5beec6055b924a6e98b954d1773212b0

المؤلفون: Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 2, p 1248 (2024)

مصطلحات موضوعية: epilepsy, developmental and epileptic encephalopathies, outcome, genetics, drugresistance, behaviour, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/2/1248; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/ada6bc1d4b3e4764896ca76a1f59cb82

الاتاحة: https://doi.org/10.3390/ijms25021248
https://doaj.org/article/ada6bc1d4b3e4764896ca76a1f59cb82

المؤلفون: Roberta Zuntini, Chiara Cattani, Lucia Pedace, Evelina Miele, Stefano Giuseppe Caraffi, Stefano Gardini, Elena Ficarelli, Simone Pizzi, Francesca Clementina Radio, Angelica Barone, Simonetta Piana, Patrizia Bertolini, Domenico Corradi, Maria Marinelli, Caterina Longo, Alberico Motolese, Orsetta Zuffardi, Marco Tartaglia, Livia Garavelli

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: epidermal nevus, rhabdomyosarcoma, HRAS, postzygotic mutation, paternal UPD11, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1231434/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/11c9a2f28d984570a4371bea13d887a7

المؤلفون: Carlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, Susanna Rizzi, Camilla Cappelletti, Simone Pizzi, Daniele Frattini, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Marcello Niceta, Francesca Clementina Radio, Marco Tartaglia, Livia Garavelli, Carlo Fusco

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: autism, epilepsy, movement disorder, angiomas, choanal atresia, FOXP1, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1207176/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/b63d96ca2f06471c8155a7c1ece643c5

المؤلفون: Ajay X. Thomas, Nichole Link, Laurie A. Robak, Gail Demmler‐Harrison, Emily C. Pao, Audrey E. Squire, Savannah Michels, Julie S. Cohen, Anne Comi, Paolo Prontera, Alberto Verrotti di Pianella, Giuseppe Di Cara, Livia Garavelli, Stefano Giuseppe Caraffi, Carlo Fusco, Roberta Zuntini, Kendall C. Parks, Elliott H. Sherr, Mais O. Hashem, Sateesh Maddirevula, Fowzan S. Alkuraya, Isphana A. F. Contractar, Jennifer E. Neil, Christopher A. Walsh, Hugo J. Bellen, Hsiao‐Tuan Chao, Robin D. Clark, Ghayda M. Mirzaa

المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1276-1288 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/bf3759a0566147bbb6315854302293ea

المؤلفون: Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Francesca Peluso, Maria Chiara Baroni, Valeria Polizzi, Manuela Napoli, Simonetta Rosato, Gabriele Trimarchi, Chiara Gelmini, Stefano Giuseppe Caraffi, Anita Wischmeijer, Daniele Frattini, Antonio Novelli, Livia Garavelli

المصدر: Genes; Volume 14; Issue 8; Pages: 1526

مصطلحات موضوعية: ectrodactyly, SHFM, DLX5, DLX6, DYNC1I1, TADs, imprinting, regulatory elements

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14081526

الاتاحة: https://doi.org/10.3390/genes14081526

المؤلفون: Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, Elisa Rubinato, Stefania Lenarduzzi, Claudio Graziano, Livia Garavelli, Sara Miccoli, Stefania Bigoni, Anna Morgan, Giorgia Girotto

المصدر: Biomedicines; Volume 11; Issue 3; Pages: 703

مصطلحات موضوعية: hereditary hearing loss, MLPA, long-range PCR, whole exome sequencing, non-syndromic mimics, dual molecular diagnosis

وصف الملف: application/pdf

Relation: Molecular Genetics and Genetic Diseases; https://dx.doi.org/10.3390/biomedicines11030703

الاتاحة: https://doi.org/10.3390/biomedicines11030703

المؤلفون: Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Marco Tartaglia, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli

المصدر: Genes; Volume 14; Issue 3; Pages: 549

مصطلحات موضوعية: capillary malformation-arteriovenous malformation (CM-AVM), RASA1, prenatal findings, polyhydramnios, non-immune fetal hydrops, chylothorax

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14030549

الاتاحة: https://doi.org/10.3390/genes14030549

المؤلفون: Viola Trevisani, Eleonora Balestri, Manuela Napoli, Stefano Giuseppe Caraffi, Maria Chiara Baroni, Francesca Peluso, Anna Colonna, Lorenzo Iughetti, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli

المصدر: Genes, Vol 14, Iss 1745, p 1745 (2023)

مصطلحات موضوعية: diprosopus, diprosopia, craniofacial duplication, case report, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/14/9/1745; https://doaj.org/toc/2073-4425; https://doaj.org/article/2ded4476af5b413e88434805e8908530

الاتاحة: https://doi.org/10.3390/genes14091745
https://doaj.org/article/2ded4476af5b413e88434805e8908530

المؤلفون: Silvia Sassi, Silvia Faccioli, Giuseppina Mariagrazia Farella, Roberto Tedeschi, Livia Garavelli, Maria Grazia Benedetti

المساهمون: Silvia Sassi, Silvia Faccioli, Giuseppina Mariagrazia Farella, Roberto Tedeschi, Livia Garavelli, Maria Grazia Benedetti

مصطلحات موضوعية: progressive pseudorheumatoid dysplasia, gait deviation, gait analysi, muscle activity

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36553423; info:eu-repo/semantics/altIdentifier/wos/WOS:000902361800001; volume:9; issue:12; firstpage:1; lastpage:9; numberofpages:9; journal:CHILDREN; https://hdl.handle.net/11585/909809; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144687249; https://www.mdpi.com/2227-9067/9/12/1982

الاتاحة: https://hdl.handle.net/11585/909809
https://doi.org/10.3390/children9121982
https://www.mdpi.com/2227-9067/9/12/1982

المؤلفون: Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Mowat-Wilson syndrome, ZEB2, Growth charts, Weight, Length, Height, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01418-4; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/80124a98602c4794863224c650289c08

المؤلفون: Berardo Rinaldi, Roberta Villa, Alessandra Sironi, Livia Garavelli, Palma Finelli, Maria Francesca Bedeschi

المساهمون: B. Rinaldi, R. Villa, A. Sironi, L. Garavelli, P. Finelli, M. Francesca Bedeschi

مصطلحات موضوعية: Smith-Mageni, SMS, RAI1, 17p11.2 deletion syndrome, sleep disorders, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/35205380; info:eu-repo/semantics/altIdentifier/wos/WOS:000975419700001; volume:13; issue:2; firstpage:1; lastpage:17; numberofpages:17; journal:GENES; https://hdl.handle.net/2434/925921; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124821415

الاتاحة: https://hdl.handle.net/2434/925921
https://doi.org/10.3390/genes13020335

المؤلفون: Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, Ambrin Fatima, Lars Allan Larsen, Roberta Zuntini, Manuela Napoli, Livia Garavelli

المصدر: Genes; Volume 13; Issue 4; Pages: 634

مصطلحات موضوعية: microcephaly, MCPH1, MRI, SNP array, simplified gyral pattern

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13040634

الاتاحة: https://doi.org/10.3390/genes13040634

المؤلفون: Simonetta Rosato, Sheila Unger, Belinda Campos-Xavier, Stefano Giuseppe Caraffi, Laura Beltrami, Marzia Pollazzon, Ivan Ivanovski, Marco Castori, Maria Paola Bonasoni, Giuseppina Comitini, Peter G. J. Nikkels, Kristin Lindstrom, Christine Umandap, Andrea Superti-Furga, Livia Garavelli

المصدر: Genes; Volume 13; Issue 2; Pages: 261

مصطلحات موضوعية: osteocraniostenosis (OCS), Kenny-Caffey syndrome (KCS), FAM111A, cloverleaf skull, gracile bone dysplasia, hypoplastic spleen, asplenia, microphthalmia

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13020261

الاتاحة: https://doi.org/10.3390/genes13020261

المؤلفون: Christel Tran, Licia Turolla, Diana Ballhausen, Sandrine Cornaz Buros, Tony Teav, Hector Gallart-Ayala, Julijana Ivanisevic, Mohamed Faouzi, Dirk J. Lefeber, Ivan Ivanovski, Sara Giangiobbe, Stefano Giuseppe Caraffi, Livia Garavelli, Andrea Superti-Furga

المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100777- (2021)

مصطلحات موضوعية: Sialic acid, NANS deficiency, Developmental delay, Nutrition therapy, Brain gangliosides, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000719; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/63d32cbd678940469e7e39b261c4ce6e

المؤلفون: Haghshenas, Sadegheh, Bout, Hidde J, Schijns, Josephine M, Levy, Michael A, Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A, Williams, Ella M, Halliday, Benjamin J, Huisman, Sylvia A, Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F, Galazzi, Elena, van Gils, Julien, Hurst, Anna C E, Kaiser, Frank J, Lacombe, Didier, Martinez-Monseny, Antonio F, Fergelot, Patricia, Monteiro, Fabíola P, Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N, Alders, Mariëlle, Robertson, Stephen P, Sadikovic, Bekim, Menke, Leonie A The members of the MKHK Research Consortium are An- drea Angius, Janice A. Baker, Emma Bedoukian, Vikas Bhambhani, Olaf Bodamer, Alan O’Brien, Jill Clayton- Smith, Laura Crisponi, Anna Mar ́ıa Cueto Gonza ́lez, the DDD study, Koenraad Devriendt, Elena Dominguez Gar- rido, Nadja Ehmke, Albertien van Eerde, Annette P. M. van den Elzen, Laurence Faivre, Laura Fisher, Josue A. Flores- Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto Garc ́ıa-Min ̃au ́r, Livia Garavelli, That- jana Gardeitchik, Erica H. Gerkes, Julien van Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Riddervold Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilencikova, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, Maja Kovacevi, c, A. M. A. (Guus) Lachmeijer, Brendan Lanpher, Marine Lebrun, Eyby Leon, Angie Ward Lichty, Ruth Lin, Isabel Llano-Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia B. Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury-Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Pat- terson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Per- sico, Valentina Pes, Marzia Pollazzon, Thomas Potjer, Lor- raine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola K. Ragge, Jan Peter Rake, Conny M. A. van Ravenswaaij-Arts, Gillian Rea, Claudia Ruivenkamp, Au- drey Rutz, Sulagna C Saitta, Rossana Sanchez Russo, Gijs W. E. Santen, Elise Schaefer, Vandana Shashi, Laura Schultz-Rogers, Andrea Sluga, Stefano Sotgiu, Elisabeth Steichen-Gersdorf, Jennifer A. Sullivan, Yu Sun, Mohnish Suri, Marco Tartaglia, Matt Tedder, Paulien Terhal, Ian Tully, Nienke Verbeek, Maren Wenzel, Susan M. White, Bing Xiao.

المساهمون: Sadegheh, Haghshena, Hidde J, Bout, Josephine M, Schijn, Michael A, Levy, Jennifer, Kerkhof, Pratibha, Bhai, Haley, Mcconkey, Zandra A, Jenkin, Ella M, William, Benjamin J, Halliday, Sylvia A, Huisman, Peter, Lauffer, Vivian, de Waard, Laura, Witteveen, Siddharth, Banka, Angela F, Brady, Elena, Galazzi, Julien, van Gil, Anna C E, Hurst, Frank J, Kaiser, Didier, Lacombe, Antonio F, Martinez-Monseny, Patricia, Fergelot, Fabíola P, Monteiro, Ilaria, Parenti, Luca, Persani, Fernando, Santos-Simarro, Brittany N, Simpson, Mariëlle, Alder, Stephen P, Robertson, Bekim, Sadikovic, Menke, A The members of the MKHK Research Consortium are An- drea Angius, Leonie, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vika, Bodamer, Olaf, O’Brien, Alan, Clayton- Smith, Jill, Crisponi, Laura, Mar ́ıa Cueto Gonza ́lez, Anna, DDD study, The, Devriendt, Koenraad, Dominguez Gar- rido, Elena, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P. M., Faivre, Laurence, Fisher, Laura, Flores- Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, Garc ́ıa-Min ̃au ́r, Sixto, Garavelli, Livia, jana Gardeitchik, That-, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Gonzalez Garcia, Aixa, Riddervold Heimdal, Ketil, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovacevi, Maja, C, (Guus) Lachmeijer, A. M. A., Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Ward Lichty, Angie, Lin, Ruth, Llano-Rivas, Isabel, Ann Lynch, Sally, Maas, Saskia M., Maitz, Silvia B., Mckee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Pat- terson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Per- sico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thoma, raine Potocki, Lor-

مصطلحات موضوعية: CREB-binding protein, DNA methylation, E1A-associated protein p300, MKHK, Menke-Hennekam syndrome, Rubinstein-Taybi syndrome, episignature, intellectual disability, intrinsically disordered linker, zinc-finger domain

Relation: info:eu-repo/semantics/altIdentifier/pmid/38553851; volume:5; firstpage:1; lastpage:19; numberofpages:19; journal:HGG ADVANCES; https://hdl.handle.net/11386/4895476

الاتاحة: https://hdl.handle.net/11386/4895476
https://doi.org/10.1016/j.xhgg.2024.100287

المؤلفون: Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello

المصدر: The American Journal of Human Genetics. 110:681-690

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55945c53254c4d34de031af05e90375a
https://doi.org/10.1016/j.ajhg.2023.03.005

المؤلفون: Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, Simonetta Rosato, Heidi Fodstad, Belinda Campos-Xavier, Emanuele Soncini, Giuseppina Comitini, Daniele Frattini, Teresa Grimaldi, Maria Marinelli, Davide Martorana, Antonio Percesepe, Silvia Sassi, Carlo Fusco, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli

المصدر: Genes; Volume 13; Issue 1; Pages: 29

مصطلحات موضوعية: arthrogryposis, distal arthrogryposis, multiple pterygium syndrome (MPS), Escobar syndrome, amyoplasia, genetic testing, differential diagnosis, prognosis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13010029

الاتاحة: https://doi.org/10.3390/genes13010029

المؤلفون: Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli

المصدر: Genes; Volume 12; Issue 8; Pages: 1208

مصطلحات موضوعية: CEP85L, lissencephaly 10, posterior lissencephaly, double-cortex, abnormalities of cortical development, whole exome sequencing, donor splice site

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12081208

الاتاحة: https://doi.org/10.3390/genes12081208

المؤلفون: Duccio Maria Cordelli, Veronica Di Pisa, Anna Fetta, Livia Garavelli, Lucia Maltoni, Luca Soliani, Emilia Ricci

المصدر: Genes; Volume 12; Issue 7; Pages: 982

مصطلحات موضوعية: ZEB2, neural crest, GABAergic transmission, corpus callosum, epilepsy, sleep disorders, neurodevelopmental delay, intellectual disability

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12070982

الاتاحة: https://doi.org/10.3390/genes12070982