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1Academic Journal
المؤلفون: Sono, Reiri, Larrinaga, Tania M, Huang, Alden, Makhlouf, Frank, Kang, Xuedong, Su, Jonathan, Lau, Ryan, Arboleda, Valerie A, Biniwale, Reshma, Fishbein, Gregory A, Khanlou, Negar, Si, Ming-Sing, Satou, Gary M, Halnon, Nancy, Ucla Congenital Heart Defects-BioCore Faculty, Van Arsdell, Glen S, Gregorio, Carol C, Nelson, Stanly, Touma, Marlin
المصدر: Cells. 12(11)
مصطلحات موضوعية: Heart, Humans, Cardiomyopathy, Dilated, Cardiomyopathies, Homozygote, Infant, Infant, Newborn, Male, Exome Sequencing, DCM, LMOD2, heart maturation, leiomodins, neonatal cardiomyopathy, sarcomere, thin filament, whole-exome sequencing, whole-genome sequencing, Genetics, Pediatric, Cardiovascular, Heart Disease, Aetiology, 2.1 Biological and endogenous factors
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Zhao, Yan, Wang, Lee-kai, Eskin, Ascia, Kang, Xuedong, Fajardo, Viviana M, Mehta, Zubin, Pineles, Stacy, Schmidt, Ryan J, Nagiel, Aaron, Satou, Gary, Garg, Meena, Federman, Myke, Reardon, Leigh C, Lee, Steven L, Biniwale, Reshma, Grody, Wayne W, Halnon, Nancy, Khanlou, Negar, Quintero-Rivera, Fabiola, Alejos, Juan C, Nakano, Atsushi, Fishbein, Gregory A, Van Arsdell, Glen S, Nelson, Stanley F, Touma, Marlin
المصدر: Journal of Molecular Medicine. 99(11)
مصطلحات موضوعية: Medicinal and Biomolecular Chemistry, Chemical Sciences, Pediatric, Rare Diseases, Congenital Structural Anomalies, Cancer, Heart Disease, Human Genome, Genetics, Cardiovascular, Biotechnology, Cancer Genomics, 2.1 Biological and endogenous factors, Good Health and Well Being, Alstrom Syndrome, Cardiomyopathies, Cell Cycle Proteins, Ciliopathies, Endocardial Fibroelastosis, Epithelial-Mesenchymal Transition, Female, Fibroblasts, Humans, Infant, Mutation, Myocardium, Phenotype, RNA-Seq, Transcriptome, Primary endocardial fibroelastosis, Neonatal cardiomyopathy, Alstrom syndrome, Exome sequencing, RNA sequencing, Fibrosis, Epithelial mesenchymal transition, Retinal dystrophy, Rare undiagnosed disease, Immunology, Medicinal and biomolecular chemistry
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez, Juan C. Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel A. Martín
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 2; Pages: 1743
مصطلحات موضوعية: NDUFB11 gene, mitochondrial complex I, neonatal cardiomyopathy, splicing, heart muscle, skeletal muscle
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms24021743
الاتاحة: https://doi.org/10.3390/ijms24021743
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4Academic Journal
المؤلفون: Ilham Benyamna
مصطلحات موضوعية: Neonatal Cardiomyopathy Neonatal Lupus Childhood Onset Lupus SSA Antibodies SSB Antibodies Heart Failure
Relation: https://doi.org/10.5281/zenodo.5234881; https://doi.org/10.5281/zenodo.5234882; oai:zenodo.org:5234882
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المؤلفون: Stanley F. Nelson, Marlin Touma, Steven L. Lee, Myke Federman, Wayne W. Grody, Ryan J. Schmidt, Stacy L. Pineles, Reshma Biniwale, Yan Zhao, Aaron Nagiel, Gary Satou, Zubin Mehta, Glen Van Arsdell, Juan C. Alejos, Xuedong Kang, Atsushi Nakano, Lee-kai Wang, Ascia Eskin, Gregory A. Fishbein, Fabiola Quintero-Rivera, Meena Garg, Leigh C. Reardon, Nancy Halnon, Negar Khanlou, Viviana M. Fajardo
المصدر: Journal of molecular medicine (Berlin, Germany), vol 99, iss 11
Journal of Molecular Medicine (Berlin, Germany)مصطلحات موضوعية: Proband, Exome sequencing, Cardiomyopathy, Cell Cycle Proteins, Cardiovascular, Neonatal cardiomyopathy, Congenital, Drug Discovery, 2.1 Biological and endogenous factors, RNA-Seq, Aetiology, Alstrom syndrome, Genetics (clinical), Genetics, Pediatric, Retinal dystrophy, RNA sequencing, Endocardial Fibroelastosis, Phenotype, Heart Disease, Molecular Medicine, Original Article, Female, Cardiomyopathies, Biotechnology, Epithelial-Mesenchymal Transition, Immunology, Frameshift mutation, Medicinal and Biomolecular Chemistry, Rare Diseases, medicine, Humans, Loss function, Rare undiagnosed disease, business.industry, Myocardium, Human Genome, Infant, Fibroblasts, medicine.disease, Fibrosis, Human genetics, Ciliopathies, Brain Disorders, Ciliopathy, Good Health and Well Being, Mutation, Congenital Structural Anomalies, business, Transcriptome, Epithelial mesenchymal transition, Primary endocardial fibroelastosis, Alström syndrome
وصف الملف: application/pdf
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6Academic Journal
المؤلفون: Baban A., Adorisio R., Corica B., Rizzo C., Cali F., Semeraro M., Taurisano R., Magliozzi M., Carrozzo R., Parisi F., Dallapiccola B., Vaz F. M., Drago F., Dionisi-Vici C.
المساهمون: Baban, A., Adorisio, R., Corica, B., Rizzo, C., Cali, F., Semeraro, M., Taurisano, R., Magliozzi, M., Carrozzo, R., Parisi, F., Dallapiccola, B., Vaz, F. M., Drago, F., Dionisi-Vici, C.
مصطلحات موضوعية: delayed 3-MGA-uria, neonatal cardiomyopathy, TMEM70, Barth (TAZ)
Relation: info:eu-repo/semantics/altIdentifier/pmid/31729175; info:eu-repo/semantics/altIdentifier/wos/WOS:000496543500001; volume:182; issue:1; firstpage:64; lastpage:70; numberofpages:7; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11573/1402653; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075485646
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المؤلفون: Rachele Adorisio, Anwar Baban, Rosalba Carrozzo, Bruno Dallapiccola, Carlo Dionisi-Vici, Frédéric M. Vaz, Cristiano Rizzo, Monia Magliozzi, Fabrizio Drago, Roberta Taurisano, Bernadette Corica, Federica Calì, Francesco Parisi, Michela Semeraro
المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, APH - Personalized Medicine, APH - Methodology
المصدر: American journal of medical genetics. Part A, 182(1), 64-70. Wiley-Liss Inc.
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Cardiomyopathy, TMEM70, Neonatal onset, Glutarates, Mitochondrial Proteins, delayed 3-MGA-uria, neonatal cardiomyopathy, TMEM70, Barth (TAZ), Genetics, Medicine, Humans, Family history, Age of Onset, Child, Genetics (clinical), Phenocopy, Metabolic Syndrome, business.industry, Infant, Newborn, Infant, Membrane Proteins, Barth syndrome, 3-Methylglutaconic Aciduria, medicine.disease, Barth Syndrome, Mutation, Etiology, Biomarker (medicine), Female, business, Cardiomyopathies, Barth (TAZ), Acyltransferases, Metabolism, Inborn Errors, Transcription Factors
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8Academic Journal
المؤلفون: Burkitt-Wright, Emma M M, Bradley, Lisa, Shorto, Jennifer, Mcconnell, Vivienne P M, Gannon, Caroline, Firth, Helen V., Park, Soo Mi, D'Amore, Angela, Munyard, Paul F., Turnpenny, Peter D., Charlton, Amanda, Wilson, Meredith, Kerr, Bronwyn
المصدر: Burkitt-Wright , E M M , Bradley , L , Shorto , J , Mcconnell , V P M , Gannon , C , Firth , H V , Park , S M , D'Amore , A , Munyard , P F , Turnpenny , P D , Charlton , A , Wilson , M & Kerr , B 2012 , ' Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val ' , American Journal of Medical Genetics. Part A , vol. 158 , no. 5 , pp. 1102-1110 . https://doi.org/10.1002/ajmg.a.35296
مصطلحات موضوعية: Congenital alveolar dysplasia, Costello syndrome, Dinucleotide insertion/deletion mutation, HRAS, Neonatal cardiomyopathy
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9
المؤلفون: Emma M M, Burkitt-Wright, Lisa, Bradley, Jennifer, Shorto, Vivienne P M, McConnell, Caroline, Gannon, Helen V, Firth, Soo-Mi, Park, Angela, D'Amore, Paul F, Munyard, Peter D, Turnpenny, Amanda, Charlton, Meredith, Wilson, Bronwyn, Kerr
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Diagnosis, Differential, Heart Defects, Congenital, Genes, ras, INDEL Mutation, congenital alveolar dysplasia, Costello Syndrome, HRAS, Infant, Newborn, neonatal cardiomyopathy, Humans, Research Articles, dinucleotide insertion/deletion mutation