المؤلفون: Bonfiglio, Ferdinando, Zheng, Tenghao, Garcia-Etxebarria, Koldo, Hadizadeh, Fatemeh, Bujanda, Luis, Bresso, Francesca, Agreus, Lars, Andreasson, Anna, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T, Karling, Pontus, Ohlsson, Bodil, Simren, Magnus, Walter, Susanna, Nardone, Gerardo, Cuomo, Rosario, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Latiano, Anna, Hübenthal, Matthias, Thijs, Vincent, Netea, Mihai G, Jonkers, Daisy, Chang, Lin, Mayer, Emeran A, Wouters, Mira M, Boeckxstaens, Guy, Camilleri, Michael, Franke, Andre, Zhernakova, Alexandra, D'Amato, Mauro

المصدر: Gastroenterology. 155(1)

مصطلحات موضوعية: Genetics, Prevention, Digestive Diseases, Pain Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, Chromosomes, Human, Pair 9, Constipation, Europe, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Irritable Bowel Syndrome, Male, Menarche, Middle Aged, Polymorphism, Single Nucleotide, Self Report, Sex Factors, Sweden, United States, SNP, Biobank Research, Bowel Symptoms, Clinical Sciences, Neurosciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/625706n2Test

المؤلفون: Lionel, Anath C, Tammimies, Kristiina, Vaags, Andrea K, Rosenfeld, Jill A, Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K, Pillalamarri, Vamsee K, Carter, Melissa T, Gazzellone, Matthew J, Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W, Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C, Leather, Susan, Trounce, John, Bedford, H Melanie, Hatchwell, Eli, Eis, Peggy S, Yuen, Ryan KC, Walker, Susan, Uddin, Mohammed, Geraghty, Michael T, Nikkel, Sarah M, Tomiak, Eva M, Fernandez, Bridget A, Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D, Schachar, Russell J, Roberts, Wendy, Paterson, Andrew D, So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Lowry, R Brian, Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R, Howe, Jennifer L, Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S, Wilks, Timothy M, Sorensen, Mark J, Bader, Patricia I, An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M, Della Monica, Matteo, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C, Talkowski, Michael E, Stavropoulos, Dimitri J, Marshall, Christian R, Scherer, Stephen W

المصدر: Human Molecular Genetics. 23(10)

مصطلحات موضوعية: Pediatric Research Initiative, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Human Genome, Neurosciences, Autism, Clinical Research, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 9, DNA Copy Number Variations, Exons, Female, Gene Expression, Genetic Association Studies, Genetic Predisposition to Disease, Glycoproteins, Humans, Infant, Infant, Newborn, Male, Nerve Tissue Proteins, Organ Specificity, Phenotype, Polymorphism, Single Nucleotide, Protein Isoforms, Receptors, Cell Surface, Risk Factors, Sequence Deletion, Transcription Factors, Transcription Initiation Site, Tripartite Motif Proteins, Ubiquitin-Protein Ligases, Young Adult, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/59x2g1gfTest

المؤلفون: Henström, Maria, Diekmann, Lena, Bonfiglio, Ferdinando, Hadizadeh, Fatemeh, Zheng, Tenghao, Assadi, Ghazaleh, Heine, Martin, Philipp, Ute, Money, Mary E., Belheouane, Meriem, Rafter, Joseph, Nardone, Gerardo, Cuomo, Rosario, Galeazzi, Francesca, Neri, Matteo, Walter, Susanna, Simrén, Magnus, Karling, Pontus, Ohlsson, Bodil, Schmidt, Peter T., Lindberg, Greger, Dlugosz, Aldona, Agreus, Lars, Andreasson, Anna, Mayer, Emeran, Baines, John F., Engstrand, Lars, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Chang, Lin, Camilleri, Michael, Franke, Andre, Naim, Hassan Y., D'Amato, Mauro, Kuech, Eva-Maria, Von Köckritz-Blickwede, Maren, Thingholm, Louise B, DIerks, Claudia, DIstl, Ottmar, Heinsen, Femke-Anouska, Usai-Satta, Paolo, Portincasa, Piero

المساهمون: Henström, Maria, Diekmann, Lena, Bonfiglio, Ferdinando, Hadizadeh, Fatemeh, Zheng, Tenghao, Assadi, Ghazaleh, Heine, Martin, Philipp, Ute, Money, Mary E., Belheouane, Meriem, Rafter, Joseph, Nardone, Gerardo, Cuomo, Rosario, Galeazzi, Francesca, Neri, Matteo, Walter, Susanna, Simrén, Magnu, Karling, Pontu, Ohlsson, Bodil, Schmidt, Peter T., Lindberg, Greger, Dlugosz, Aldona, Agreus, Lar, Andreasson, Anna, Mayer, Emeran, Baines, John F., Engstrand, Lar, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Chang, Lin, Camilleri, Michael, Franke, Andre, Naim, Hassan Y., D'Amato, Mauro, Kuech, Eva-Maria, Von Köckritz-Blickwede, Maren, Thingholm, Louise B, Dierks, Claudia, Distl, Ottmar, Heinsen, Femke-Anouska, Usai-Satta, Paolo, Portincasa, Piero

مصطلحات موضوعية: DIARRHOEA, GENETICS, IRRITABLE BOWEL SYNDROME, POLYMORPHIC VARIATION, Adult, Animal, Carbohydrate Metabolism, Inborn Error, Case-Control Studie, Cell Line, Cell Membrane, DNA Mutational Analysi, Defecation, Diarrhea, Exon, Fece, Female, Gene Dosage, Genotype, Haplorhini, Human, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Risk Factor, Sucrase-Isomaltase Complex, Transfection, Gastroenterology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27872184; info:eu-repo/semantics/altIdentifier/wos/WOS:000419604800011; volume:67; issue:2; firstpage:263; lastpage:270; numberofpages:8; journal:GUT; http://hdl.handle.net/11586/185583Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85006058898; http://gut.bmj.com/content/by/yearTest

الإتاحة: https://doi.org/10.1136/gutjnl-2016-312456Test
http://hdl.handle.net/11586/185583Test
http://gut.bmj.com/content/by/yearTest

المؤلفون: Giuseppe Lamorte, Jessica Rosati, Daniela Ferrari, Laura Bernardini, Gianluigi Mazzoccoli, Matteo Della Monica, Angelo L. Vescovi, Antonella De Jaco, Elisa Maria Turco, Annamaria Nardone, Ersilia Vinci, Filomena Altieri, Barbara Torres

المساهمون: Altieri, F, Turco, E, Vinci, E, Torres, B, Ferrari, D, De Jaco, A, Mazzoccoli, G, Lamorte, G, Nardone, A, Della Monica, M, Bernardini, L, Vescovi, A, Rosati, J

المصدر: Stem Cell Research, Vol 28, Iss, Pp 153-156 (2018)

مصطلحات موضوعية: Adult, 0301 basic medicine, Cellular differentiation, Induced Pluripotent Stem Cells, Cell Culture Techniques, Retinoic acid, 030105 genetics & heredity, Biology, medicine.disease_cause, Mice, 03 medical and health sciences, chemistry.chemical_compound, medicine, Animals, Humans, Coding region, Induced pluripotent stem cell, lcsh:QH301-705.5, Gene, Embryoid Bodies, Genetics, Mutation, Base Sequence, Teratoma, Genetic disorder, Cell Differentiation, Cell Biology, General Medicine, Smith–Magenis syndrome, medicine.disease, lcsh:Biology (General), chemistry, Trans-Activators, Female, Smith-Magenis Syndrome, Transcription Factors, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a085952af3911fae3616d629973c25dTest
https://doi.org/10.1016/j.scr.2018.02.016Test

المؤلفون: Diana Postorivo, Barbara Torres, Matteo Della Monica, Antonio Novelli, Anna Maria Nardone, Laura Bernardini, Francesca Clementina Radio, Bruno Dallapiccola, Cristina Gorgone, Gioacchino Scarano, Teresa Mattina, Claudia Cesario, Fabio Acquaviva, Monia Magliozzi, Viola Alesi, Fortunato Lonardo, Maria Cristina Digilio

المصدر: American Journal of Medical Genetics Part A. 176:2501-2508

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, Candidate gene, 030105 genetics & heredity, Bioinformatics, Pathogenesis, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Craniofacial, Gene, Wolf–Hirschhorn syndrome, Genetics (clinical), Psychomotor learning, business.industry, Infant, Newborn, Infant, medicine.disease, Child, Preschool, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc38b4b0575bf6d38b6a87c9e93087bTest
https://doi.org/10.1002/ajmg.a.40512Test

المؤلفون: Piero Portincasa, Fatemeh Hadizadeh, Gerardo Nardone, Giovanni Barbara, Lars Engstrand, Ghazaleh Assadi, Anna Andreasson, Louise B. Thingholm, Emeran A. Mayer, Lars Agréus, Lena Diekmann, John F. Baines, Martin Heine, Mauro D'Amato, Rosario Cuomo, Ottmar Distl, Ute Philipp, Aldona Dlugosz, Vincenzo Stanghellini, Magnus Simrén, Pontus Karling, Eva Maria Kuech, Andre Franke, C. Dierks, Matteo Neri, Michael Camilleri, Maria Henström, Maren von Köckritz-Blickwede, Ferdinando Bonfiglio, Susanna Walter, Hassan Y. Naim, Bodil Ohlsson, Mary E. Money, Greger Lindberg, Meriem Belheouane, Peter T. Schmidt, Lin Chang, Joseph Rafter, Paolo Usai-Satta, Francesca Galeazzi, Massimo Bellini, Femke-Anouska Heinsen, Tenghao Zheng

المساهمون: Henström, Maria, Diekmann, Lena, Bonfiglio, Ferdinando, Hadizadeh, Fatemeh, Kuech, Eva Maria, von Köckritz Blickwede, Maren, Thingholm, Louise B, Zheng, Tenghao, Assadi, Ghazaleh, Dierks, Claudia, Heine, Martin, Philipp, Ute, Distl, Ottmar, Money, Mary E, Belheouane, Meriem, Heinsen, Femke Anouska, Rafter, Joseph, Nardone, GERARDO ANTONIO PIO, Cuomo, Rosario, Usai Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Walter, Susanna, Simrén, Magnu, Karling, Pontu, Ohlsson, Bodil, Schmidt, Peter T, Lindberg, Greger, Dlugosz, Aldona, Agreus, Lar, Andreasson, Anna, Mayer, Emeran, Baines, John F, Engstrand, Lar, Portincasa, Piero, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Chang, Lin, Camilleri, Michael, Franke, Andre, Naim, Hassan Y, D'Amato, Mauro, Kuech, Eva-Maria, von Köckritz-Blickwede, Maren, Thingholm, Louise B., Money, Mary E., Heinsen, Femke-Anouska, Nardone, Gerardo, Usai-Satta, Paolo, Schmidt, Peter T., Baines, John F., Naim, Hassan Y.

المصدر: Gut

مصطلحات موضوعية: Male, DNA Mutational Analysis, Gene Dosage, DIARRHOEA, Bioinformatics, GENETICS, IRRITABLE BOWEL SYNDROME, POLYMORPHIC VARIATION, Adult, Animals, Carbohydrate Metabolism, Inborn Errors, Case-Control Studies, Cell Line, Cell Membrane, Defecation, Diarrhea, Exons, Feces, Female, Genotype, Haplorhini, Humans, Irritable Bowel Syndrome, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Risk Factors, Sucrase-Isomaltase Complex, Transfection, Gastroenterology, Sucrase-isomaltase complex, Pathogenesis, 0302 clinical medicine, Irritable bowel syndrome, 2. Zero hunger, Genetics, Inborn Errors, Single Nucleotide, 3. Good health, 030220 oncology & carcinogenesis, Medical genetics, Carbohydrate Metabolism, 030211 gastroenterology & hepatology, medicine.symptom, Sucrase-isomaltase, medicine.medical_specialty, Gastroenterology and Hepatology, Biology, Gene dosage, Neurogastroenterology, 03 medical and health sciences, medicine, Gastroenterologi, Polymorphism, Case-control study, medicine.disease

وصف الملف: application/pdf; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bbaf7cf787cb86498166072005d30a1Test
http://hdl.handle.net/11568/948647Test

المؤلفون: Isabella Mammi, Diana Postorivo, Aminta Varricchio, Maria Garzo, Elisa Nalesso, Teresa Mattina, Ilaria Catusi, Maria Paola Recalcati, Laura Cardarelli, Nicola Beltrami, Anna Sajeva, Maria Teresa Bonati, Daniela Giardino, Annapia Verri, Lidia Larizza, Asia Costa, Nicoletta Villa, Anna Maria Nardone

المصدر: European Journal of Medical Genetics. 61:173-180

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Gestational Age, 030105 genetics & heredity, Biology, Molecular cytogenetics, 03 medical and health sciences, Fetus, Chromosome 19, Genetics, medicine, Humans, Abnormalities, Multiple, Supernumerary, Copy-number variation, Small supernumerary marker chromosome, Genetic Association Studies, Genetics (clinical), Chromosome Aberrations, Mosaicism, Cytogenetics, Chromosome, General Medicine, Phenotype, Child, Preschool, Cytogenetic Analysis, Female, Chromosomes, Human, Pair 19

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ee44c49bf4aa6e1d6440e91216290a5Test
https://doi.org/10.1016/j.ejmg.2017.11.007Test

المؤلفون: Giovanni Barbara, Yuri A. Saito, Mauro D'Amato, Greger Lindberg, Massimo Bellini, Nicholas J. Talley, Piero Portincasa, Rosario Cuomo, Weronica E. Ek, Cheryl E. Bernard, Gerardo Nardone, Aldona Dlugosz, Arthur Beyder, Pontus Karling, G. Richard Locke, Maria Gazouli, Michael J. Ackerman, Peter T. Schmidt, Bodil Ohlsson, Matteo Neri, Michael Camilleri, David J. Tester, Peter R. Strege, Felicity Enders, Paolo Usai-Satta, Francesca Galeazzi, Gianrico Farrugia, Amelia Mazzone

المساهمون: Beyder, A, Mazzone, A, Strege, Pr, Tester, Dj, Saito, Ya, Bernard, Ce, Enders, Ft, Ek, We, Schmidt, Pt, Dlugosz, A, Lindberg, G, Karling, P, Ohlsson, B, Gazouli, M, Nardone, GERARDO ANTONIO PIO, Cuomo, Rosario, Usai Satta, P, Galeazzi, F, Neri, M, Portincasa, P, Bellini, M, Barbara, G, Camilleri, M, Locke GR, 3rd, Talley, Nj, D'Amato, M, Ackerman, Mj, Farrugia, G., Beyder, Arthur, Mazzone, Amelia, Strege, Peter R, Tester, David J, Saito, Yuri A, Bernard, Cheryl E, Enders, Felicity T, Ek, Weronica E, Schmidt, Peter T, Dlugosz, Aldona, Lindberg, Greger, Karling, Pontu, Ohlsson, Bodil, Gazouli, Maria, Nardone, Gerardo, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Camilleri, Michael, Locke, G Richard, Talley, Nicholas J, D'Amato, Mauro, Ackerman, Michael J, Farrugia, Gianrico

المصدر: Gastroenterology. 146:1659-1668

مصطلحات موضوعية: Male, Proband, Genetics, GI Motility, Polymorphism, Voltage-Gated Sodium Channel, Adolescent, Adult, Aged, Case-Control Studies, Channelopathies, Constipation, DNA Mutational Analysis, Diarrhea, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, HEK293 Cells, Humans, Irritable Bowel Syndrome, Membrane Potentials, Middle Aged, NAV1.5 Voltage-Gated Sodium Channel, Phenotype, Prevalence, Prospective Studies, Risk Factors, Transfection, Voltage-Gated Sodium Channel Blockers, Young Adult, Gastrointestinal Motility, Mutation, Missense, Gastroenterology, Genome-wide association study, Nav1.5, HEK293 Cell, Missense mutation, Irritable bowel syndrome, biology, cardiovascular system, Case-Control Studie, Human, medicine.drug, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Membrane Potential, Article, Channelopathie, DNA Mutational Analysi, Genetic, Mexiletine, Internal medicine, medicine, cardiovascular diseases, Hepatology, business.industry, Risk Factor, Case-control study, medicine.disease, Prospective Studie, Endocrinology, Voltage-Gated Sodium Channel Blocker, Mutation, biology.protein, Missense, business

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de6db4556c406511980f0953168251fTest
https://doi.org/10.1053/j.gastro.2014.02.054Test

المؤلفون: Mauro D'Amato, Anna Andreasson, Guy E. Boeckxstaens, Ferdinando Bonfiglio, Mira M. Wouters, Anna Latiano, Gerardo Nardone, Matteo Neri, Francesca Galeazzi, Greger Lindberg, Tenghao Zheng, Lars Agréus, Alexandra Zhernakova, Matthias Hübenthal, Susanna Walter, Emeran A. Mayer, Lin Chang, Luis Bujanda, Massimo Bellini, Daisy Jonkers, Mihai G. Netea, Paolo Usai-Satta, Francesca Bresso, Pontus Karling, Bodil Ohlsson, Rosario Cuomo, Fatemeh Hadizadeh, Giovanni Barbara, Vincent Thijs, Magnus Simrén, Aldona Dlugosz, Michael Camilleri, Piero Portincasa, Koldo Garcia-Etxebarria, Andre Franke, Peter T. Schmidt

المساهمون: Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Interne Geneeskunde, RS: NUTRIM - R2 - Liver and digestive health, Bonfiglio, Ferdinando, Zheng, Tenghao, Garcia-Etxebarria, Koldo, Hadizadeh, Fatemeh, Bujanda, Lui, Bresso, Francesca, Agreus, Lar, Andreasson, Anna, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T., Karling, Pontu, Ohlsson, Bodil, Simren, Magnu, Walter, Susanna, Nardone, Gerardo, Cuomo, Rosario, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Latiano, Anna, Hübenthal, Matthia, Thijs, Vincent, Netea, Mihai G., Jonkers, Daisy, Chang, Lin, Mayer, Emeran A., Wouters, Mira M., Boeckxstaens, Guy, Camilleri, Michael, Franke, Andre, Zhernakova, Alexandra, D'Amato, Mauro

المصدر: Gastroenterology, vol 155, iss 1
Gastroenterology, 155, 1, pp. 168-179
Gastroenterology, 155(1), 168-179. W B SAUNDERS CO-ELSEVIER INC
Gastroenterology, 155, 168-179
Gastroenterology, 155(1), 168-179. Elsevier Saunders

مصطلحات موضوعية: 0301 basic medicine, Male, Constipation, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Genome-wide association study, Sex Factor, Bioinformatics, Irritable Bowel Syndrome, 0302 clinical medicine, Genotype, Medicine, 2.1 Biological and endogenous factors, Aetiology, Irritable bowel syndrome, POPULATION, RISK, education.field_of_study, Pain Research, Gastroenterology, Single Nucleotide, Middle Aged, Europe, Medical genetics, 030211 gastroenterology & hepatology, Female, medicine.symptom, Chromosomes, Human, Pair 9, Life Sciences & Biomedicine, Bowel Symptom, Human, Pair 9, United State, Adult, medicine.medical_specialty, GENETICS, Population, Clinical Sciences, Biobank Research, SNP, Single-nucleotide polymorphism, Chromosome 9, Polymorphism, Single Nucleotide, Article, Chromosomes, Paediatrics and Reproductive Medicine, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, AGE, Sex Factors, Genetic, Genetics, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, Polymorphism, education, METAANALYSIS, Bowel Symptoms, Aged, Menarche, Sweden, Science & Technology, Hepatology, Gastroenterology & Hepatology, business.industry, GENDER-RELATED DIFFERENCES, COLONIC TRANSIT, Prevention, Human Genome, Neurosciences, Genetic Variation, medicine.disease, FUNCTIONAL GI DISORDERS, United States, 030104 developmental biology, CHANNELOPATHIES, Self Report, business, Digestive Diseases, Genome-Wide Association Study

وصف الملف: application/pdf; Print-Electronic; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::094a0c40a4bd743e184799dd00d52791Test
https://escholarship.org/uc/item/625706n2Test

المؤلفون: Maria Iascone, Diana Postorivo, Michele Pinelli, Maria Teresa Falco, Maria Elena Sana, Fabio Acquaviva, Anna Maria Nardone, Paolo Fontana, Matteo Della Monica, Fortunato Lonardo, Gioacchino Scarano

المصدر: American Journal of Medical Genetics Part A. 173:231-238

مصطلحات موضوعية: Adult, 0301 basic medicine, Offspring, Retinoic acid induced 1, media_common.quotation_subject, Genetic counseling, Mothers, 030105 genetics & heredity, Nuclear Family, Frameshift mutation, 03 medical and health sciences, Genetics, Humans, Medicine, Exome, Child, Genetic Association Studies, Genetics (clinical), Exome sequencing, media_common, Comparative Genomic Hybridization, Daughter, business.industry, Intracellular Signaling Peptides and Proteins, Genetic disorder, Facies, High-Throughput Nucleotide Sequencing, Reproducibility of Results, medicine.disease, Smith–Magenis syndrome, Pedigree, Repressor Proteins, Phenotype, 030104 developmental biology, Mutation, Female, Smith-Magenis Syndrome, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e4f7284b6b21ac2cb25ed2cda4a3d1Test
https://doi.org/10.1002/ajmg.a.37989Test