المؤلفون: Cooper, Jaimee N, Mittal, Jeenu, Sangadi, Akhila, Klassen, Delany L, King, Ava M, Zalta, Max, Mittal, Rahul, Eshraghi, Adrien A

المصدر: NYMC Student Publications

مصطلحات موضوعية: NRXN1, autism spectrum disorder, gene variants, genetic predisposition, genotype–phenotype correlation, synaptic function, Student, Medicine and Health Sciences

العلاقة: https://touroscholar.touro.edu/nymc_students_pubs/255Test; https://pubmed.ncbi.nlm.nih.gov/38610832/?myncbishare=nymclibTest

الإتاحة: https://doi.org/10.3390/jcm13072067Test
https://touroscholar.touro.edu/nymc_students_pubs/255Test
https://pubmed.ncbi.nlm.nih.gov/38610832/?myncbishare=nymclibTest

المؤلفون: Ayter, Şükriye, Sharafi, Parisa

مصطلحات موضوعية: Neurofibromatosis type 1, Genotype–phenotype correlation, Clinical variability, Modifier genes

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/20.500.11851/794Test; 32; 65; 77; WOS:000434269300002; 2-s2.0-85048232895; Q2

الإتاحة: https://doi.org/20.500.11851/79410.1080/01677063.2018.1456538Test
https://hdl.handle.net/20.500.11851/794Test

المؤلفون: Giulia Giannotti, Alessandro Inserra, Ernesto Leva, Girolamo Mattioli, Giovanna Riccipetitoni, Patrizia Dall'Igna, Paolo Frumento, Luigina Spaccini, Giulia Brisighelli, B.D. Iacobelli, Maurizio Cheli, Anna Maria Fagnani, Luca Pio, Sara Costanzo, Calogero Virgone

المصدر: Journal of Pediatric Surgery. 52:1591-1596

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Anal Canal, Gastroenterology, 0302 clinical medicine, Associated anomalies, Child, education.field_of_study, medicine.diagnostic_test, Genotype–phenotype correlation, Incidence (epidemiology), General Medicine, Perinatology and Child Health, Phenotype, Child, Preschool, 030220 oncology & carcinogenesis, Currarino syndrome, MNX1 gene, Digestive System Abnormalities, Female, Genetic Testing, Homeodomain Proteins, Humans, Mutation, Rectum, Retrospective Studies, Sacrum, Syringomyelia, Transcription Factors, Mutation (genetic algorithm), Genotypeâ phenotype correlation, medicine.medical_specialty, Genetic counseling, Population, Genotype–phenotype correlation, Surgery, Pediatrics, Perinatology and Child Health, 03 medical and health sciences, Internal medicine, medicine, Preschool, education, Genetic testing, business.industry, Retrospective cohort study, medicine.disease, 030104 developmental biology, Settore MED/20, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bc6fd2d8bdd2a413a4755a9c41131dfTest
https://doi.org/10.1016/j.jpedsurg.2017.06.012Test

المؤلفون: Edoardo Giacopuzzi, Silvia Morlino, Silvia Majore, Nicola Chiarelli, Marco Castori, Valeria Cinquina, Giulia Carini, Marina Colombi, Marco Ritelli

مصطلحات موضوعية: 0301 basic medicine, Male, Connective Tissue Disorder, Filamins, 030105 genetics & heredity, Biology, medicine.disease_cause, Filamin, atrophic scarring, 03 medical and health sciences, Ehlersâ Danlos syndrome, Fatal Outcome, Genes, X-Linked, medicine, Genetics, FLNA, Humans, Exome, Child, Preschool, Exome sequencing, Genetic Association Studies, Genetics (clinical), connective tissue, Mutation, genotypeâ phenotype correlations, Dystrophy, High-Throughput Nucleotide Sequencing, X-Linked, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Ehlers–Danlos syndrome, filamin A, genotype–phenotype correlations, Child, Preschool, Ehlers-Danlos Syndrome, Female, Pedigree, Phenotype, RNA Splice Sites, 030104 developmental biology, Genes, Ehlers–Danlos syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a258ac05f66ae5e044779ca29411890bTest
http://hdl.handle.net/11379/501622Test

المؤلفون: Ritelli, Marco, Morlino, Silvia, Giacopuzzi, Edoardo, Carini, Giulia, Cinquina, Valeria, Chiarelli, Nicola, Majore, Silvia, Colombi, Marina, Castori, Marco

المساهمون: Ritelli, Marco, Morlino, Silvia, Giacopuzzi, Edoardo, Carini, Giulia, Cinquina, Valeria, Chiarelli, Nicola, Majore, Silvia, Colombi, Marina, Castori, Marco

مصطلحات موضوعية: atrophic scarring, connective tissue, Ehlers–Danlos syndrome, filamin A, genotype–phenotype correlation, Child, Preschool, Ehlers-Danlos Syndrome, Exome, Fatal Outcome, Female, Filamin, Genes, X-Linked, Genetic Association Studie, High-Throughput Nucleotide Sequencing, Human, Magnetic Resonance Imaging, Male, Middle Aged, Pedigree, Mutation, Phenotype, RNA Splice Site, Genetic, Genetics (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27739212; info:eu-repo/semantics/altIdentifier/wos/WOS:000393134900024; volume:173; issue:1; firstpage:169; lastpage:176; numberofpages:8; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11379/501622Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84991471672; http://onlinelibrary.wiley.com/journal/10.1002Test/(ISSN)1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.38004Test
http://hdl.handle.net/11379/501622Test

المؤلفون: Costanzo, Sara, Spaccini, Luigina, Pio, Luca, Mattioli, Girolamo, Virgone, Calogero, Dall'Igna, Patrizia, Iacobelli, Barbara, Inserra, Alessandro, Brisighelli, Giulia, Fagnani, Anna Maria, Leva, Ernesto, Giannotti, Giulia, Cheli, Maurizio, Frumento, Paolo, Riccipetitoni, Giovanna

المساهمون: Costanzo, Sara, Spaccini, Luigina, Pio, Luca, Mattioli, Girolamo, Virgone, Calogero, Dall'Igna, Patrizia, Iacobelli, Barbara, Inserra, Alessandro, Brisighelli, Giulia, Fagnani, Anna Maria, Leva, Ernesto, Giannotti, Giulia, Cheli, Maurizio, Frumento, Paolo, Riccipetitoni, Giovanna

مصطلحات موضوعية: Associated anomalie, Currarino syndrome, Genotype–phenotype correlation, MNX1 gene, Surgery, Pediatrics, Perinatology and Child Health

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28689883; info:eu-repo/semantics/altIdentifier/wos/WOS:000415316900010; volume:52; issue:10; firstpage:1591; lastpage:1596; numberofpages:6; journal:JOURNAL OF PEDIATRIC SURGERY; http://hdl.handle.net/11577/3255629Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85021834961; http://www.elsevier.com/inca/publications/store/6/2/3/1/4/8/index.httTest

الإتاحة: https://doi.org/10.1016/j.jpedsurg.2017.06.012Test
http://hdl.handle.net/11577/3255629Test
http://www.elsevier.com/inca/publications/store/6/2/3/1/4/8/index.httTest

المساهمون: Moreno Uribe, L. M., Miller, S. F.

المصدر: Orthod Craniofac Res. 2015; 18(0 1):91-99.

مصطلحات موضوعية: Article, candidate genes, cephalometry, craniofacial, genetics, genomic medicine, genotype–phenotype correlation, phenomics

العلاقة: cdc:30831; http://stacks.cdc.gov/view/cdc/30831Test/

الإتاحة: http://stacks.cdc.gov/view/cdc/30831Test/

المساهمون: Moreno Uribe, L. M., Miller, S. F.

المصدر: Orthod Craniofac Res. 2015; 18(0 1):91-99.

مصطلحات موضوعية: Article, candidate genes, cephalometry, craniofacial, genetics, genomic medicine, genotype–phenotype correlation, phenomics, scipo, lang

العلاقة: http://stacks.cdc.gov/view/cdc/30831Test/

الإتاحة: http://stacks.cdc.gov/view/cdc/30831Test/