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1Academic Journal
المؤلفون: Pollazzon, M., Caraffi, S.G., Faccioli, S., Rosato, S., Fodstad, H., Campos-Xavier, B., Soncini, E., Comitini, G., Frattini, D., Grimaldi, T., Marinelli, M., Martorana, D., Percesepe, A., Sassi, S., Fusco, C., Gargano, G., Superti-Furga, A., Garavelli, L.
المصدر: Genes, vol. 13, no. 1, pp. 29
مصطلحات موضوعية: Abnormalities, Multiple/genetics, Adolescent, Adult, Arthrogryposis/genetics, Child, Preschool, Conjunctiva/abnormalities, Female, Genotype, Humans, Loeys-Dietz Syndrome/genetics, Male, Malignant Hyperthermia/genetics, Middle Aged, Mutation/genetics, Pedigree, Phenotype, Pregnancy, Pterygium/genetics, Skin Abnormalities/genetics, Escobar syndrome, amyoplasia, arthrogryposis, differential diagnosis, distal arthrogryposis, genetic testing, multiple pterygium syndrome (MPS), prognosis
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/35052370; info:eu-repo/semantics/altIdentifier/eissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_9DFD90B994C17; https://serval.unil.ch/notice/serval:BIB_9DFD90B994C1; https://serval.unil.ch/resource/serval:BIB_9DFD90B994C1.P001/REF.pdf
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2Academic Journal
المؤلفون: Duarte, AF, Akaishi, P, Molfetta, G, Chodraui-Filho, S, Cintra, M, Toscano, A, Araujo Silva, W, A v Cruz, A
مصطلحات موضوعية: CHLC OFT, Blepharophimosis/diagnostic imaging, Blepharophimosis/genetics, Cross-Sectional Studies, DNA Mutational Analysis, Exons/genetics, Eye Abnormalities/diagnostic imaging, Eye Abnormalities/genetics, Forkhead Transcription Factors/genetics, Gene Amplification, Gene Association Studies, Lacrimal Apparatus/abnormalities, Skin Abnormalities/diagnostic imaging, Skin Abnormalities/genetics, Slit Lamp Microscopy, Tears/physiology, Tomography, X-Ray Computed, Urogenital Abnormalities/diagnostic imaging, Urogenital Abnormalities/genetics
Relation: Ophthalmology. 2017 Mar;124(3):399-406; http://hdl.handle.net/10400.17/2597
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3Academic Journal
المؤلفون: Onnis, G., Bourrat, E., Jonca, N., Dreyfus, I., Severino-Freire, M., Pichery, M., Fischer, J., Mazereeuw-Hautier, J.
المساهمون: Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hopital Saint-Louis AP-HP (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Universitäts Klinikum Freiburg = University Medical Center Freiburg (Uniklinik)
المصدر: ISSN: 0007-0963.
مصطلحات موضوعية: MESH: Acitretin / administration & dosage, MESH: Administration, Oral, MESH: Keratosis / pathology, MESH: Phenotype, MESH: Skin Abnormalities / drug therapy, MESH: Skin Abnormalities / genetics, MESH: Skin Abnormalities / pathology, MESH: Skin Diseases, Genetic / drug therapy, Genetic / genetics, Genetic / pathology, MESH: Adult, MESH: Alitretinoin / administration & dosage, MESH: Dermatologic Agents / administration & dosage, MESH: Diagnosis, Differential, MESH: Drug Substitution, MESH: Female, MESH: Humans, MESH: Keratolytic Agents / administration & dosage, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases
Relation: info:eu-repo/semantics/altIdentifier/pmid/29315485; hal-03536669; https://ut3-toulouseinp.hal.science/hal-03536669; PUBMED: 29315485
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4
المؤلفون: Fanny Morice-Picard, Juliette Mazereeuw-Hautier, A. Taieb, D Mermin, F. Boralevi, Christine Léauté-Labrèze, Nathalie Jonca, M. Pichery
المساهمون: Service de dermatologie [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], CHU Toulouse [Toulouse]
المصدر: Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology, Wiley, 2017, 31 (3), pp.e154-e156. ⟨10.1111/jdv.13898⟩مصطلحات موضوعية: 0301 basic medicine, MESH: Mutation, Hot spot (veterinary medicine), Dermatology, MESH: DNA / genetics, MESH: Skin Diseases, Genetic / genetics, MESH: Phenotype, 030207 dermatology & venereal diseases, 03 medical and health sciences, MESH: Skin Abnormalities / metabolism, 0302 clinical medicine, Dna genetics, MESH: Diagnosis, Differential, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Child, Medicine, MESH: DNA Mutational Analysis, Skin pathology, Genetics, MESH: Humans, business.industry, MESH: Molecular Chaperones / genetics, MESH: Molecular Chaperones / metabolism, MESH: Skin Abnormalities / diagnosis, MESH: Skin Diseases, Genetic / diagnosis, Phenotype, MESH: Male, 3. Good health, MESH: Skin / pathology, 030104 developmental biology, Infectious Diseases, MESH: Skin Abnormalities / genetics, MESH: Skin Diseases, Genetic / metabolism, business, Genetic diagnosis
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5
المؤلفون: Wilson A. Silva, Greice Andreotti de Molfetta, Salomão Faroj Chodraui-Filho, Ana Filipa Duarte, Antonio Augusto Velasco e Cruz, Alcina Toscano, Murilo Bicudo Cintra, Patricia Akaishi
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: 0301 basic medicine, Proband, Forkhead Box Protein L2, Male, Blepharophimosis/genetics, DNA Mutational Analysis, Alacrima, Eye Abnormalities/genetics, 0302 clinical medicine, Ptosis, Exons/genetics, Forkhead Transcription Factors/genetics, Eye Abnormalities, Child, Fisher's exact test, Gene Association Studies, Lacrimal Apparatus, Forkhead Transcription Factors, Anatomy, Exons, Forkhead box L2, medicine.anatomical_structure, CHLC OFT, Agenesis, Child, Preschool, symbols, Female, medicine.symptom, Urogenital Abnormalities/diagnostic imaging, Adult, medicine.medical_specialty, Adolescent, Lacrimal gland, Blepharophimosis, Slit Lamp Microscopy, 03 medical and health sciences, symbols.namesake, Ophthalmology, medicine, Humans, Genetic Association Studies, Skin Abnormalities/genetics, Tears/physiology, business.industry, Lacrimal Apparatus/abnormalities, Gene Amplification, Eye Abnormalities/diagnostic imaging, TOMOGRAFIA COMPUTADORIZADA POR RAIOS X, medicine.disease, Skin Abnormalities/diagnostic imaging, 030104 developmental biology, Cross-Sectional Studies, Urogenital Abnormalities/genetics, Tears, Urogenital Abnormalities, Blepharophimosis/diagnostic imaging, 030221 ophthalmology & optometry, Skin Abnormalities, business, Tomography, X-Ray Computed
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6Academic Journal
المؤلفون: Kremer, Laura S, Danhauser, Katharina, Schneider, Dominik, Klee, Dirk, Rokicki, Dariusz, Mayatepek, Ertan, Strom, Tim M, Meitinger, Thomas, Klopstock, Thomas, Pronicka, Ewa, Mayr, Johannes A, Baric, Ivo, Herebian, Diran, Distelmaier, Felix, Prokisch, Holger, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B, Płoski, Rafał, Lohmeier, Klaus
المصدر: The American journal of human genetics 99(4), 894-902 (2016). doi:10.1016/j.ajhg.2016.07.018
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Carrier Proteins: genetics, Carrier Proteins: metabolism, Cell Line, Child, Preschool, Fatal Outcome, Female, Fibroblasts, Humans, Infant, Male, Metabolic Diseases: genetics, Metabolic Diseases: metabolism, Metabolic Diseases: pathology, Mutation, NAD: analogs & derivatives, NAD: metabolism, Nervous System Diseases: genetics, Nervous System Diseases: metabolism, Nervous System Diseases: pathology, Neuroimaging, Racemases and Epimerases: genetics, Skin Abnormalities: genetics, Skin Abnormalities: pathology, Carrier Proteins, NAD, 6-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotide, NAXE protein, human
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/issn/1537-6605; info:eu-repo/semantics/altIdentifier/issn/0002-9297; info:eu-repo/semantics/altIdentifier/pmid/pmid:27616477; https://pub.dzne.de/record/138821; https://pub.dzne.de/search?p=id:%22DZNE-2020-05143%22
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7Academic Journal
المؤلفون: de Leeuw, Nicole, BULK, Saskia, Green, Andrew, Jaeckle-Santos, Lane, Baker, Linda A., Zinn, Andrew R., Kleefstra, Tjitske, van der Smagt, Jasper J., Vianne Morgante, Angela Maria, de Vries, Bert B. A., van Bokhoven, Hans, de Brouwer, Arjan P. M.
المصدر: American Journal of Medical Genetics. Part A, 152A (12), 3084-90 (2010)
مصطلحات موضوعية: Abnormalities, Multiple/genetics, Child, Preschool, Chromosomes, Human, X/genetics, Humans, Infant, Intellectual Disability/genetics, Male, Pedigree, Point Mutation, Seizures/genetics, Skin Abnormalities/genetics, Speech Disorders/genetics, Syndrome, Ubiquitin-Conjugating Enzymes/deficiency/genetics, Urogenital Abnormalities/genetics, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
Relation: urn:issn:1552-4825; urn:issn:1552-4833; https://orbi.uliege.be/handle/2268/181834; info:hdl:2268/181834; info:pmid:21108393
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8Academic Journal
المؤلفون: Westerterp, Marit, Berbée, Jimmy F P, Delsing, Dianne J M, Jong, Miek C, Gijbels, Marion J J, Dahlmans, Vivian E H, Offerman, Erik H, Romijn, Johannes A, Havekes, Louis M, Rensen, Patrick C N
المصدر: Westerterp , M , Berbée , J F P , Delsing , D J M , Jong , M C , Gijbels , M J J , Dahlmans , V E H , Offerman , E H , Romijn , J A , Havekes , L M & Rensen , P C N 2007 , ' Apolipoprotein C-I binds free fatty acids and reduces their intracellular esterification ' , Journal of Lipid Research , vol. 48 , no. 6 , pp. 1353-1361 . https://doi.org/10.1194/jlr.M700024-JLR200
مصطلحات موضوعية: Animals, Apolipoprotein C-I/chemistry, Cells, Cultured, Dermatologic Surgical Procedures, Enzyme-Linked Immunosorbent Assay, Esterification, Fatty Acids, Nonesterified/chemistry, Female, Humans, Lipoproteins, VLDL/metabolism, Macrophages/cytology, Male, Mice, Inbred C57BL, Knockout, Transgenic, Oleic Acid/pharmacokinetics, Phenotype, Protein Binding, Skin/metabolism, Skin Abnormalities/genetics, Skin Transplantation
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9
المؤلفون: Johannes A. Romijn, V.E.H. Dahlmans, Jimmy F.P. Berbée, Patrick C.N. Rensen, Marit Westerterp, Marion J.J. Gijbels, Dianne J.M. Delsing, Miek C. Jong, E.H. Offerman, Louis M. Havekes
المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Translational Immunology Groningen (TRIGR), Other departments
المصدر: Journal of Lipid Research, 48(6), 1353-1361. AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
Journal of Lipid Research, Vol 48, Iss 6, Pp 1353-1361 (2007)
Journal of lipid research, 48(6), 1353-1361. American Society for Biochemistry and Molecular Biology Inc.مصطلحات موضوعية: Male, Very low-density lipoprotein, Dermatologic Surgical Procedures, Adipose tissue, Fatty Acids, Nonesterified, Lipoproteins, VLDL, Inbred C57BL, Biochemistry, Transgenic, Mice, Endocrinology, Skin/metabolism, Cells, Cultured, chemistry.chemical_classification, Mice, Knockout, Lipoprotein lipase, Cultured, Nonesterified/chemistry, Fatty Acids, lipoprotein, Skin Transplantation, Fatty Acids, Nonesterified/chemistry, Phenotype, lipids (amino acids, peptides, and proteins), Female, Intracellular, Protein Binding, medicine.medical_specialty, skin, Cells, Lipoproteins, Knockout, lipoprotein lipase, Enzyme-Linked Immunosorbent Assay, Mice, Transgenic, macrophage, QD415-436, Biology, Oleic Acid/pharmacokinetics, Internal medicine, medicine, Lipoproteins, VLDL/metabolism, Animals, Humans, triglyceride, Skin Abnormalities/genetics, Apolipoprotein C-I, Esterification, Macrophages, Fatty acid, Macrophages/cytology, VLDL/metabolism, Cell Biology, Transplantation, Mice, Inbred C57BL, chemistry, Skin Abnormalities, Apolipoprotein C-I/chemistry, Apolipoprotein C1, Oleic Acid, Lipoprotein
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10Academic Journal
المؤلفون: Sundberg, J P, Boggess, D
المصدر: Faculty Research 1990 - 1999