المؤلفون: Charles Marques Lourenço, Jaime Eduardo Cecílio Hallak, Wilson Marques, Pedro J. Tomaselli, Silmara P. Gouvea, Fernanda Barbosa Figueiredo, Silvana Giuliatti, Wilson A. Silva, Anna Paula Paranhos Miranda Covaleski

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Population, Prevalence, Nerve Tissue Proteins, Disease, Biology, Cohort Studies, 03 medical and health sciences, Tooth disease, Young Adult, 0302 clinical medicine, Recessive inheritance, Charcot-Marie-Tooth Disease, Humans, education, Child, Gene, Genetics (clinical), Likely pathogenic, Genetics, Guanine Deaminase, education.field_of_study, MUTAÇÃO GENÉTICA, Axons, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, New mutation, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery, Brazil

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef65dc156ae331e9a88bd20c1ef50efbTest
https://pubmed.ncbi.nlm.nih.gov/33903021Test

المؤلفون: Shirin Farjadian, Giovanni Romeo, Francesco Bonatti, A. Soriano, Claudio Graziano, Antonio Percesepe, Mozhgan Moghtaderi, Michele Reina, Alessia Adorni, Davide Martorana

المصدر: Reumatismo, Vol 71, Iss 2 (2019)

مصطلحات موضوعية: Male, lcsh:Internal medicine, MEFV gene, Familial Mediterranean fever, lcsh:Medicine, Gene mutation, Iran, medicine.disease_cause, Pyrin domain, 03 medical and health sciences, Exon, 0302 clinical medicine, Rheumatology, medicine, Humans, 030212 general & internal medicine, Child, lcsh:RC31-1245, Gene, new mutation, 030203 arthritis & rheumatology, Genetics, Mutation, business.industry, lcsh:R, Pyrin, medicine.disease, MEFV, New mutation, autoinflammatory disorders, business, Pyrin protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7614f776cb9e7547814c827bd438f0fcTest
https://www.reumatismo.org/index.php/reuma/article/view/1141Test

المؤلفون: Corsello G., Antona V., Serra G., Zara F., Giambrone C., Lagalla L., Piccione M., Piro E.

المساهمون: Corsello, G., Antona, V., Serra, G., Zara, F., Giambrone, C., Lagalla, L., Piccione, M., Piro, E.

مصطلحات موضوعية: Genotype-phenotype correlation, New mutation, NF1 gene, NF1 microdeletion syndrome, Adolescent, Adult, Age Factor, Child, Preschool, Cohort Studie, DNA Mutational Analysi, Female, Genes, Neurofibromatosis 1, Genetic Association Studie, Genetic Predisposition to Disease, Human, Italy, Male, Middle Aged, Prevalence, Prognosi, Retrospective Studie, Risk Assessment, Sex Factor, Young Adult, Mutation, Missense

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29618358; info:eu-repo/semantics/altIdentifier/wos/WOS:000429411200002; volume:44; firstpage:45; lastpage:46; numberofpages:2; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11567/1025754Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044968071

الإتاحة: https://doi.org/10.1186/s13052-018-0483-zTest
http://hdl.handle.net/11567/1025754Test

المؤلفون: Gregorio Serra, Federico Zara, Giovanni Corsello, Luca Lagalla, Maria Piccione, Clara Giambrone, Ettore Piro, Vincenzo Antona

المساهمون: Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro

المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: 0301 basic medicine, Genotype-phenotype correlation, New mutation, NF1 gene, NF1 microdeletion syndrome, Adolescent, Adult, Age Factors, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Female, Genes, Neurofibromatosis 1, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Italy, Male, Middle Aged, Neurofibromatosis 1, Prevalence, Prognosis, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Mutation, Missense, Disease, 0302 clinical medicine, Genotype, Medicine, Young adult, lcsh:RJ1-570, Cohort, Cohort study, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 03 medical and health sciences, Neurofibromatosis, Preschool, business.industry, Research, Retrospective cohort study, lcsh:Pediatrics, medicine.disease, Dermatology, 030104 developmental biology, Genes, Pediatrics, Perinatology and Child Health, Mutation, Missense, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4090aac99e2ecd85815a5681e4f8a51Test
https://pubmed.ncbi.nlm.nih.gov/29618358Test

المؤلفون: Michel Hanss, Angéline Chabaud, Ludovic Mansuy, Philippe de Mazancourt, Marie Toussaint-Hacquard, Thomas Lecompte, J. Devignes

المصدر: Annales de biologie clinique. 71:489-495

مصطلحات موضوعية: Male, Heterozygote, Herpesvirus 6, Human, Fibrinogen, Fibrin, Cytosine, Exanthema Subitum, medicine, Consensus sequence, Humans, Histidine, Dysfibrinogenemia, Child, Codon, Gene, Incidental Findings, Polymorphism, Genetic, biology, business.industry, Adenine, Fibrinogens, Abnormal, General Medicine, Afibrinogenemia, medicine.disease, Molecular biology, Mutation, New mutation, Mutation (genetic algorithm), biology.protein, Asparagine, business, Meningitis, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76063be6f8a2a01da0c5eff8046d66f7Test
https://doi.org/10.1684/abc.2013.0872Test

المؤلفون: Nurcan Cengiz, Aysun Karabay-Bayazit, Aytül Noyan, Ali Kemal Topaloglu, Berna Şeker-Yılmaz, Gülay Ceylaner, Deniz Kor, Neslihan Önenli-Mungan, Ali Anarat, Bilgin Yüksel, Sevgi Yavuz

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genotype, Turkey, Cystinosis, 030232 urology & nephrology, 030204 cardiovascular system & hematology, medicine.disease_cause, Compound heterozygosity, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, Humans, Child, Mutation, Traditional medicine, business.industry, Clinical course, Infant, medicine.disease, Phenotype, Pedigree, Amino Acid Transport Systems, Neutral, Pediatri, Child, Preschool, Pediatrics, Perinatology and Child Health, New mutation, Female, business, South eastern

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b89834c5341a0c30234d4532f216c3Test
https://hdl.handle.net/20.500.12605/5063Test

المؤلفون: Tanja Karen, Nadja Bogdanova, Annette Linz, Anja Stein, Claudia Möller-Hartmann, Jan-Ulrich Schlump, Dietmar R. Lohmann, Ursula Felderhoff-Mueser, Nursel Elcioglu, Dagmar Wieczorek, Hartmut Fritz Woike, Ute Hehr

المصدر: European Journal of Pediatrics. 171:1611-1618

مصطلحات موضوعية: Genetic Markers, Male, Pediatrics, medicine.medical_specialty, Medizin, Frameshift mutation, medicine, Humans, Craniofacial, Child, Frameshift Mutation, Gene, Genetics, Specific mutation, business.industry, Infant, Newborn, Nuclear Proteins, Mandibulofacial dysostosis, Phosphoproteins, medicine.disease, Phenotype, Pediatrics, Perinatology and Child Health, New mutation, Female, business, Treacher Collins syndrome, Mandibulofacial Dysostosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5969f15041965728f0141eee7fa1175Test
https://doi.org/10.1007/s00431-012-1776-7Test

المؤلفون: Kürşad Aydın, Cengiz Dilber, Olcay Güngör, Ahmet Kağan Özkaya, Gülay Güngör

المساهمون: Çukurova Üniversitesi

المصدر: Acta neurologica Belgica. 117(1)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Neurology, MEDLINE, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Optic Nerve Diseases, medicine, Humans, Child, Neuroradiology, medicine.diagnostic_test, business.industry, Leukodystrophy, Magnetic resonance imaging, Optic Nerve, General Medicine, medicine.disease, Magnetic Resonance Imaging, Leukodystrophy, Globoid Cell, New mutation, Mutation, Krabbe disease, Neurology (clinical), business, 030217 neurology & neurosurgery, Galactosylceramidase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689cef66d1739750392aedcb18c62762Test
https://pubmed.ncbi.nlm.nih.gov/27040675Test

المؤلفون: Peter J.M.J. Kok, Judith O. Kaufmann, Piero C. Giordano, Margreet Bakker-Verweij, Sandra G.J. Arkesteijn, Florens G. A. Versteegh, Cornelis L. Harteveld, Peter van Delft, Marion Phylipsen, Gideon W.A. Lansbergen, Karola Haanappel

المصدر: Hemoglobin, 35(2), 97-102

مصطلحات موضوعية: Adult, Male, Clinical Biochemistry, Mutant, Population, Capillary electrophoresis (CE), Biology, High-performance liquid chromatography, alpha-Thalassemia, Point mutations, Humans, Point Mutation, alpha-Thalassemia (alpha-thal), Hemoglobin A2, Child, Codon, education, Gene, Genetics (clinical), Genetics, education.field_of_study, Hematologic Tests, Base Sequence, Point mutation, Biochemistry (medical), Hematology, Phenotype, Molecular biology, Pedigree, Abnormal hemoglobin, Hemoglobinopathies, Amino Acid Substitution, Child, Preschool, New mutation, Female, High performance liquid chromatography (HPLC)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cded5ac4cbdb85c7d80f72ab22d17338Test
https://doi.org/10.3109/03630269.2011.557459Test

المؤلفون: Helena C. Fernandes, H. G. Santos, Maria do Rosário Almeida, José L. Nunes

المصدر: Clinical Dysmorphology. 18:41-44

مصطلحات موضوعية: Genetics, Portugal, business.industry, Intracellular Signaling Peptides and Proteins, Proteins, Syndrome, General Medicine, language.human_language, Pathology and Forensic Medicine, Mutation, Pediatrics, Perinatology and Child Health, New mutation, Mutation (genetic algorithm), language, Humans, Medicine, Abnormalities, Multiple, Female, Anatomy, Portuguese, Child, business, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e3873d9dfd55c2797a2759bedfb7dcfTest
https://doi.org/10.1097/mcd.0b013e32831868eaTest