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1دورية أكاديمية
المؤلفون: Crettol, S., Monnat, M., Eap, C.B.
المصدر: Critical Care, vol. 11, no. 1, pp. 119
مصطلحات موضوعية: Cytochrome P-450 Enzyme System/metabolism, Humans, Methadone/adverse effects, Narcotics/adverse effects, Polymorphism, Genetic, Receptors, Opioid, mu/genetics, Respiratory Insufficiency/chemically induced, Respiratory Insufficiency/genetics, Risk Factors
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17338832; info:eu-repo/semantics/altIdentifier/pissn/1466-609X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4436790B32FC6; https://serval.unil.ch/notice/serval:BIB_4436790B32FCTest; https://serval.unil.ch/resource/serval:BIB_4436790B32FC.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4436790B32FC6Test
الإتاحة: https://doi.org/10.1186/cc5699Test
https://serval.unil.ch/notice/serval:BIB_4436790B32FCTest
https://serval.unil.ch/resource/serval:BIB_4436790B32FC.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4436790B32FC6Test -
2دورية أكاديمية
المؤلفون: Sadowski, Samantha, Chassaing, Nicolas, Gaj, Zuzanna, Czichos, Ewa, Wilczynski, Jan, Nowakowska, Dorota
المساهمون: Medical University of Łódź (MUL), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Polish Mother’s Memorial Hospital Research Institute Lodz (ICZMP), Duchess Anna Mazowiecka Public Teaching Hospital Warsaw
المصدر: ISSN: 2472-1727.
مصطلحات موضوعية: Matthew-Wood syndrome, STRA6 gene mutations, anophthalmia, MESH: Abnormalities, Multiple / diagnosis, Multiple / genetics, MESH: Male, MESH: Membrane Proteins / genetics, Multiple / pathology, MESH: Microphthalmos / diagnosis, MESH: Microphthalmos / genetics, MESH: Microphthalmos / pathology, MESH: Mutation, Missense, MESH: Pregnancy, MESH: Respiratory Insufficiency / diagnosis, MESH: Respiratory Insufficiency / genetics, MESH: Humans, MESH: Respiratory Insufficiency / pathology, MESH: Anophthalmos / diagnosis, MESH: Anophthalmos / genetics, MESH: Anophthalmos / pathology, MESH: Fatal Outcome, MESH: Female, MESH: Frameshift Mutation, MESH: Gene Expression, MESH: Infant, MESH: Inheritance Patterns, MESH: Lung / abnormalities, MESH: Lung / pathology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28398665; hal-03282659; https://ut3-toulouseinp.hal.science/hal-03282659Test; PUBMED: 28398665
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المؤلفون: Sadowski, Samantha, Chassaing, Nicolas, Gaj, Zuzanna, Czichos, Ewa, Wilczynski, Jan, Nowakowska, Dorota
المساهمون: Medical University of Łódź (MUL), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Polish Mother’s Memorial Hospital Research Institute [Lodz] (ICZMP), Duchess Anna Mazowiecka Public Teaching Hospital [Warsaw]
المصدر: Birth Defects Research
Birth Defects Research, Wiley, 2017, 109 (4), pp.251-253. ⟨10.1002/bdra.23465⟩مصطلحات موضوعية: MESH: Lung Diseases / diagnosis, Lung Diseases, Male, MESH: Respiratory Insufficiency / genetics, MESH: Fatal Outcome, MESH: Gene Expression, MESH: Lung / pathology, Inheritance Patterns, Mutation, Missense, Gene Expression, MESH: Membrane Proteins / genetics, MESH: Anophthalmos / diagnosis, STRA6 gene mutations, MESH: Microphthalmos / diagnosis, MESH: Pregnancy, Fatal Outcome, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Pregnancy, anophthalmia, Humans, Microphthalmos, Abnormalities, Multiple, MESH: Lung Diseases / pathology, Frameshift Mutation, Lung, MESH: Anophthalmos / pathology, MESH: Microphthalmos / pathology, MESH: Respiratory Insufficiency / diagnosis, MESH: Humans, MESH: Lung Diseases / genetics, MESH: Frameshift Mutation, MESH: Lung / abnormalities, Anophthalmos, Infant, Membrane Proteins, MESH: Anophthalmos / genetics, MESH: Abnormalities, Multiple / genetics, MESH: Microphthalmos / genetics, MESH: Infant, MESH: Male, MESH: Mutation, Missense, MESH: Abnormalities, Multiple / diagnosis, MESH: Respiratory Insufficiency / pathology, Matthew-Wood syndrome, MESH: Abnormalities, Multiple / pathology, Female, MESH: Inheritance Patterns, Respiratory Insufficiency, MESH: Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::800f77e7ed4d0e01ed307d6c52a1d818Test
https://pubmed.ncbi.nlm.nih.gov/28398665Test -
4دورية أكاديمية
المؤلفون: González-Freire, Marta, Santiago Dorrego, Catalina, Gómez Gallego, Félix, Pérez Ruiz, Margarita, Foster, Carl, Arenas, Joaquín, Lucía Mulas, Alejandro
مصطلحات موضوعية: Genetic Predisposition To Disease/*Genetics, Glycogen Storage Disease Type V/*Genetics, Mutation/*Genetics, Myostatin/*Genetics, Amp Deaminase/Genetics, Dna Mutational Analysis, Exercise Tolerance/Genetics, Female, Genetic Variation/Genetics, Genotype, Glycogen/Metabolism, Glycogen Storage Disease Type V/Metabolism, Glycogen Storage Disease Type V/Physiopathology, Heterozygote, Humans, Muscle Weakness/Genetics, Muscle, Skeletal/Metabolism, Skeletal/Physiopathology, Peptidyl-Dipeptidase A/Genetics, Phenotype, Respiratory Insufficiency/Genetics, Enfermedad nutricional, Deporte, Tratamiento médico
العلاقة: González-Freire, M., Santiago-Dorrego, C., Gómez-Gallego, F., Pérez-Ruiz, M., Foster, C., Arenas, J., & Lucía-Mulas, A. (2009). Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease? Neuromuscular Disorders, 19(3), 220-222.; http://hdl.handle.net/11268/1120Test
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5دورية أكاديمية
المؤلفون: Maquet, Emilie, Costagliola, Sabine, Parma, Jasmine, Hobertus, Christiane, Oligny, L L, Fournet, Jean-Christophe, Robitaille, Yves, Vuissoz, Jean-Marc, Payot, Antoine, Laberge, Sophie, Vassart, Gilbert, Van Vliet, G., Deladoëy, Johnny
المصدر: The Journal of clinical endocrinology and metabolism, 94 (1
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Amino Acid Sequence, Animals, COS Cells, Cercopithecus aethiops, DNA -- metabolism, Female, Heterozygote, Humans, Hypothyroidism -- genetics, Immunohistochemistry, Infant, Newborn, Molecular Sequence Data, Mutation, Nuclear Proteins -- chemistry, Nuclear Proteins -- genetics, Respiratory Insufficiency -- genetics, Sequence Analysis, DNA, Transcription Factors -- chemistry, Transcription Factors -- genetics, Transcriptional Activation
وصف الملف: 2 full-text file(s): application/pdf | application/pdf
العلاقة: uri/info:doi/10.1210/jc.2008-1402; uri/info:pii/jc.2008-1402; uri/info:pmid/18957494; uri/info:scp/58149373950; https://dipot.ulb.ac.be/dspace/bitstream/2013/52421/4/doi_27631.pdfTest; https://dipot.ulb.ac.be/dspace/bitstream/2013/52421/1/2009Test Lethal respiratory failure and mild primary hypothyroidism.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/52421Test
الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/52421Test
https://dipot.ulb.ac.be/dspace/bitstream/2013/52421/1/2009Test Lethal respiratory failure and mild primary hypothyroidism.pdf -
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المؤلفون: Carl Foster, Joaquín Arenas, Alejandro Lucia, Félix Gómez-Gallego, Margarita Pérez, Catalina Santiago, Marta Gonzalez-Freire
مصطلحات موضوعية: DNA Mutational Analysis, Respiratory Insufficiency/Genetics, Myostatin, Disease, AMP Deaminase, Tratamiento médico, Genotype, Glycogen/Metabolism, Actinin, Genetics (clinical), Exercise Tolerance, Muscle Weakness, Exercise Tolerance/Genetics, biology, Muscle, Skeletal/Physiopathology, Genetic Variation/Genetics, Deporte, Dna Mutational Analysis, Phenotype, Neurology, Peptidyl-Dipeptidase A/Genetics, Female, medicine.symptom, Respiratory Insufficiency, Glycogen storage disease type V, Glycogen, Adult, Glycogen Storage Disease Type V/Physiopathology, medicine.medical_specialty, Heterozygote, Adolescent, Genetic Predisposition To Disease/*Genetics, Peptidyl-Dipeptidase A, Internal medicine, Genetic variation, Glycogen Storage Disease Type V/*Genetics, medicine, Myostatin/*Genetics, Humans, Genetic Predisposition to Disease, Muscle, Skeletal, Enfermedad nutricional, Muscle Weakness/Genetics, Aged, Muscle weakness, Genetic Variation, Cardiorespiratory fitness, Heterozygote advantage, medicine.disease, Endocrinology, Muscle, Skeletal/Metabolism, Amp Deaminase/Genetics, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Glycogen Storage Disease Type V, Neurology (clinical), Glycogen Storage Disease Type V/Metabolism, Mutation/*Genetics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::539c42aa69b9ade0cc7de6f61a11a30dTest
https://hdl.handle.net/11268/1120Test -
7دورية أكاديمية
المؤلفون: Wong, VCN, LEE, SL, Goh, W, Li, S, Chung, BHY
مصطلحات موضوعية: Mutation/*genetics, DNA-Binding Proteins/*genetics, Humans, Infant, Male, Respiratory Insufficiency/*genetics, Spinal Muscular Atrophies of Childhood/complications/*diagnosis/*genetics, Transcription Factors/*genetics
العلاقة: Pediatric Neurology; http://www.scopus.com/mlt/select.url?eid=2-s2.0-33744789163&selection=ref&src=s&origin=recordpageTest; Pediatric Neurology, 2006, v. 34 n. 6, p. 474-477; 477; WOS:000238745500010; eid_2-s2.0-33744789163; 474; http://hdl.handle.net/10722/143525Test; 34
الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2005.10.022Test
http://hdl.handle.net/10722/143525Test -
8دورية أكاديمية
المؤلفون: Lange, Stephan, Xiang, Fengqing, Yakovenko, Andrey, Vihola, Anna, Hackman, Peter, Rostkova, Elena, Kristensen, Jakob, Brandmeier, Birgit, Franzen, Gereon, Hedberg, Birgitta, Gunnarsson, Lars Gunnar, Hughes, Simon M, Marchand, Sylvie, Sejersen, Thomas, Richard, Isabelle, Edström, Lars, Ehler, Elisabeth, Udd, Bjarne, Gautel, Mathias
المصدر: Lange , S , Xiang , F , Yakovenko , A , Vihola , A , Hackman , P , Rostkova , E , Kristensen , J , Brandmeier , B , Franzen , G , Hedberg , B , Gunnarsson , L G , Hughes , S M , Marchand , S , Sejersen , T , Richard , I , Edström , L , Ehler , E , Udd , B & Gautel , M 2005 , ' The kinase domain of titin controls muscle gene expression and protein turnover ' , Science (New York, N.Y.) , ....
مصطلحات موضوعية: Amino Acid Sequence, Amino Acid Substitution, Animals, Catalytic Domain, Cell Line, Cell Nucleus/metabolism, Connectin, Gene Expression Regulation, Heat-Shock Proteins/metabolism, Humans, Intracellular Signaling Peptides and Proteins, Ligands, Mice, Inbred C3H, Molecular Sequence Data, Muscle Proteins/chemistry, Muscle, Skeletal/metabolism, Muscular Diseases/genetics, Mutation, Myocytes, Cardiac/metabolism, Protein Binding, Protein Conformation, Protein Kinases/chemistry, Protein Structure, Tertiary, Proteins/metabolism, Rats, Respiratory Insufficiency/genetics
الإتاحة: https://doi.org/10.1126/science.1110463Test
https://pure.au.dk/portal/en/publications/9f191b90-3654-438e-9d4c-5d48cce353f1Test -
9دورية أكاديمية
المؤلفون: Fan, G., Beard, C., Chen, R.Z., Csankovszki, G., Sun, Y., Siniaia, M., Biniszkiewicz, D., Bates, B., Lee, P.P., Kuhn, R., Trumpp, A., Poon, C., Wilson, C.B., Jaenisch, R.
المصدر: Journal of Neuroscience, vol. 21, no. 3, pp. 788-797
مصطلحات موضوعية: Animals, Newborn, Cell Count, Cell Death, Cell Survival/physiology, Cells, Cultured, Central Nervous System/growth &, development, Central Nervous System/metabolism, Crosses, Genetic, DNA (Cytosine-5-)-Methyltransferase/deficiency, DNA (Cytosine-5-)-Methyltransferase/genetics, DNA Methylation, Electrophysiology, Gene Targeting, Mice, Transgenic, Mosaicism/genetics, Neurodegenerative Diseases/genetics, Neurodegenerative Diseases/metabolism, Neurons/cytology, Neurons/metabolism, Respiratory Insufficiency/genetics, Stem Cells/cytology, Stem Cells/metabolism
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/11157065; info:eu-repo/semantics/altIdentifier/pissn/1529-2401[electronic]; https://serval.unil.ch/notice/serval:BIB_20777Test
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10مورد إلكتروني
المصدر: The Journal of clinical endocrinology and metabolism, 94 (1
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Amino Acid Sequence, Animals, COS Cells, Cercopithecus aethiops, DNA -- metabolism, Female, Heterozygote, Humans, Hypothyroidism -- genetics, Immunohistochemistry, Infant, Newborn, Molecular Sequence Data, Mutation, Nuclear Proteins -- chemistry, Nuclear Proteins -- genetics, Respiratory Insufficiency -- genetics, Sequence Analysis, DNA, Transcription Factors -- chemistry, Transcription Factors -- genetics, Transcriptional Activation, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article