المؤلفون: Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Hélène Choquet, Mahmoud Habeeb, Sionne E. M. Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E. Rojas Lopez, Anthony P. Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T. H. Van Dooren, Annette J. M. Geerards, Christoph W. Haudum, Valeria Lo Faro, Abi Tenen, Mark J. Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S. Rahi, Ronald M. Krauss, Elisabeth Theusch, Jac C. Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A. Meester-Smoor, Andrea J. Richardson, Paul A. Mitchell, Kent D. Taylor, Ronald B. Melles, Anthony J. Aldave, Richard A. Mills, Ke Cao, Elsie Chan, Mark D. Daniell, Jie Jin Wang, Jerome I. Rotter, Alex W. Hewitt, Stuart MacGregor, Caroline C. W. Klaver, Wishal D. Ramdas, Jamie E. Craig, Sudha K. Iyengar, David O’Brart, Eric Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi

المصدر: Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3642

URL الوصول: https://doaj.org/article/6eed77457b784436985e138a87c60544

المؤلفون: Layal Abi Farraj, Wassim Daoud Khatoun, Naji Abou Chebel, Victor Wakim, Katia Dawali, Michella Ghassibe-Sabbagh

المصدر: Diagnostic Pathology, Vol 14, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Cleft palate, PGAP3, Lebanese population, Syndromic, HPMRS, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13000-019-0902-5; https://doaj.org/toc/1746-1596

URL الوصول: https://doaj.org/article/4ce151ee6f6c40eab0ac8015075195f2

المؤلفون: Pierre Zalloua, Hanane Kadar, Essa Hariri, Layal Abi Farraj, Francois Brial, Lyamine Hedjazi, Aurelie Le Lay, Alexandre Colleu, Justine Dubus, David Touboul, Fumihiko Matsuda, Mark Lathrop, Jeremy K. Nicholson, Marc-Emmanuel Dumas, Dominique Gauguier

المصدر: Lipids in Health and Disease, Vol 18, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Lipidomics, Lipoproteins, HDL cholesterol, Sphingolipids, UPLC-MS, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12944-018-0948-5; https://doaj.org/toc/1476-511X

URL الوصول: https://doaj.org/article/0f841e838d45496fa533e172b6df96fa

المؤلفون: Michella Ghassibe-Sabbagh, Zeina Mehanna, Layal Abi Farraj, Angelique K. Salloum, Pierre A. Zalloua

المصدر: Journal of Clinical & Translational Endocrinology, Vol 16, Iss , Pp - (2019)

مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214623718301376; https://doaj.org/toc/2214-6237

URL الوصول: https://doaj.org/article/77ae7eed6cf340d68e369bc5da97f0a0

المؤلفون: Evangelia S, Panagiotou, Narcis, Fernandez-Fuentes, Layal Abi, Farraj, Martin, McKibbin, Nursel H, Elçioglu, Hussain, Jafri, Eren, Cerman, David A, Parry, Clare V, Logan, Colin A, Johnson, Chris F, Inglehearn, Carmel, Toomes, Manir, Ali

المصدر: Molecular vision. 28

مصطلحات موضوعية: Homeodomain Proteins, DNA Copy Number Variations, DNA Mutational Analysis, DNA, Cataract, Corneal Diseases, Pedigree, Coloboma, Phenotype, Mutation, Trans-Activators, Humans, Microphthalmos, Eye Abnormalities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f0c8a5fc02f422254043ff8688c9b9d5
https://pubmed.ncbi.nlm.nih.gov/35693420

المؤلفون: Victor Wakim, Layal Abi Farraj, Wassim Daoud Khatoun, Michella Ghassibe-Sabbagh, Katia Dawali, Naji Abou Chebel

المصدر: Diagnostic Pathology, Vol 14, Iss 1, Pp 1-5 (2019)
Diagnostic Pathology

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Lebanese population, Histology, Population, Receptors, Cell Surface, Case Report, 030105 genetics & heredity, Pathology and Forensic Medicine, 03 medical and health sciences, symbols.namesake, PGAP3, Intellectual Disability, Intellectual disability, medicine, HPMRS, lcsh:Pathology, Humans, Abnormalities, Multiple, Syndromic, education, Exome sequencing, Genetic testing, Sanger sequencing, Genetics, education.field_of_study, medicine.diagnostic_test, business.industry, Phosphorus Metabolism Disorders, General Medicine, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Cleft palate, Skin hyperpigmentation, Mutation, Mutation (genetic algorithm), symbols, business, Carboxylic Ester Hydrolases, Founder effect, lcsh:RB1-214

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51539785313e211b005f6504aeac0210
http://link.springer.com/article/10.1186/s13000-019-0902-5

المؤلفون: Zeina Mehanna, Angelique K. Salloum, Michella Ghassibe-Sabbagh, Layal Abi Farraj, Pierre Zalloua

المصدر: Journal of Clinical & Translational Endocrinology, Vol 16, Iss, Pp-(2019)
Journal of Clinical & Translational Endocrinology

مصطلحات موضوعية: Lebanese population, medicine.medical_specialty, Polycystic ovarian syndrome, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, Macrosomia, Gestational diabetes mellitus, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Diabetes mellitus, Type 2 diabetes mellitus, Epidemiology, medicine, 030212 general & internal medicine, education, Multinomial logistic regression, education.field_of_study, lcsh:RC648-665, Obstetrics, business.industry, Type 2 Diabetes Mellitus, nutritional and metabolic diseases, medicine.disease, female genital diseases and pregnancy complications, Gestational diabetes, Clinical diagnosis, Cohort, business, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::344b62e34d1c50a2d01ee9c9d37efe20
http://www.sciencedirect.com/science/article/pii/S2214623718301376

المؤلفون: Alexandre Colleu, Essa Hariri, David Touboul, Pierre Zalloua, Jeremy K. Nicholson, Lyamine Hedjazi, Dominique Gauguier, Francois Brial, Hanane Kadar, Aurélie Le Lay, Mark Lathrop, Marc-Emmanuel Dumas, Justine Dubus, Layal Abi Farraj, Fumihiko Matsuda

المساهمون: Gestionnaire, Hal Sorbonne Université, Lebanese American University (LAU), Université Paris Descartes - Paris 5 (UPD5), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Institut de Chimie des Substances Naturelles (ICSN), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Graduate School of Medicine and Faculty of Medicine Kyoto University, McGill University and Genome Quebec Innovation Centre, Imperial College London, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'étude des Résidus et Contaminants dans les Aliments (LABERCA), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire, Agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), École pratique des hautes études (EPHE)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre d'Etude du Polymorphisme Humain (CEPH), Université Paris Diderot - Paris 7 (UPD7)-Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset, Biomolecular Medicine, The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford [Oxford]

المصدر: Lipids in Health and Disease
Lipids in Health and Disease, 2019, 18 (1), pp.38. ⟨10.1186/s12944-018-0948-5⟩
Lipids in Health and Disease, BioMed Central, 2019, 18 (1), pp.38. ⟨10.1186/s12944-018-0948-5⟩
Lipids in Health and Disease, BioMed Central, 2019, 18 (1), ⟨10.1186/s12944-018-0948-5⟩
Lipids in Health and Disease, Vol 18, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Metabolite, [SDV]Life Sciences [q-bio], Clinical Biochemistry, Coronary Artery Disease, 030204 cardiovascular system & hematology, Mass Spectrometry, TOXICITY, Coronary artery disease, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, HDL cholesterol, Medicine, ARTERY-DISEASE, lcsh:RC620-627, [SDV.BBM.BC] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], ComputingMilieux_MISCELLANEOUS, Aged, 80 and over, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.TOX.ECO] Life Sciences [q-bio]/Toxicology/Ecotoxicology, LARGE-SCALE, Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Sphingomyelins, 3. Good health, Lipoproteins, LDL, [CHIM.THEO]Chemical Sciences/Theoretical and/or physical chemistry, lcsh:Nutritional diseases. Deficiency diseases, Cholesterol, Female, lipids (amino acids, peptides, and proteins), [SDV.TOX.ECO]Life Sciences [q-bio]/Toxicology/Ecotoxicology, Lipoproteins, HDL, Sphingomyelin, Life Sciences & Biomedicine, [CHIM.CHEM]Chemical Sciences/Cheminformatics, Lipidology, Adult, medicine.medical_specialty, Biochemistry & Molecular Biology, [CHIM.ANAL] Chemical Sciences/Analytical chemistry, Adolescent, Clinical chemistry, Lipoproteins, 030209 endocrinology & metabolism, Clinical nutrition, METABOLISM, 0899 Other Information And Computing Sciences, UPLC-MS, Gas Chromatography-Mass Spectrometry, Young Adult, 03 medical and health sciences, [CHIM.ANAL]Chemical Sciences/Analytical chemistry, RISK-FACTOR, Internal medicine, Lipidomics, 1101 Medical Biochemistry And Metabolomics, Humans, Metabolomics, [CHIM]Chemical Sciences, CORONARY-HEART-DISEASE, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Aged, Sphingolipids, Science & Technology, Nutrition & Dietetics, business.industry, Research, Biochemistry (medical), medicine.disease, Sphingolipid, [SDE.BE] Environmental Sciences/Biodiversity and Ecology, [CHIM.THEO] Chemical Sciences/Theoretical and/or physical chemistry, chemistry, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, business, [CHIM.OTHE]Chemical Sciences/Other

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9c9f09da414c52e790fd104c1005fbd
http://hdl.handle.net/10044/1/68186

المؤلفون: Adewonuola Alase, Michael D Morgan, Layal Abi Farraj, Ian M. Carr, Ana Tiganescu, Paul M. Stewart

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: Primary (chemistry), Chemistry, medicine.drug_class, medicine, Cancer research, Inflammation, Beta-hydroxysteroid dehydrogenase, medicine.symptom, Anti-inflammatory

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::83a5498c840731e89b3468786e66473c
https://doi.org/10.1530/endoabs.44.p35

المؤلفون: Layal Abi Farraj, D. J. Coster, Ha Ae Bae, Judith Lechner, Paul Mitchell, Manir Ali, Maurice Yap, Gowthaman Govindarajan, Emmanuelle Souzeau, David Simpson, Richard A. Mills, Manoranjan Das, Colin E. Willoughby, Jasenka Guduric-Fuchs, Tony Phillips, Kathryn P. Burdon, Shea Ping Yip, Jamie E Craig, Salina Siddiqui, Richard G Lindsay, Periasamy Sundaresan, Chris F. Inglehearn, Aine Rice

المصدر: Lechner, J, Bae, H A, Guduric-Fuchs, J, Rice, A, Govindarajan, G, Siddiqui, S, Abi Farraj, L, Yip, S P, Yap, M, Das, M, Souzeau, E, Coster, D, Mills, R A, Lindsay, R, Phillips, T, Mitchell, P, Ali, M, Inglehearn, C F, Sundaresan, P, Craig, J E, Simpson, D A, Burdon, K P & Willoughby, C E 2013, ' Mutational Analysis of MIR184 in Sporadic Keratoconus and Myopia ', Investigative Opthalmology and Visual Science, vol. 54, no. 8, pp. 5266-72 . https://doi.org/10.1167/iovs.13-12035

مصطلحات موضوعية: Male, Keratoconus, genetic structures, Genotype, Mutant, DNA Mutational Analysis, Anterior polar cataract, medicine.disease_cause, Real-Time Polymerase Chain Reaction, medicine, Myopia, Humans, Genetics, corneal dystrophies, Mutation, business.industry, MIR184, Dystrophy, DNA, Middle Aged, medicine.disease, Phenotype, eye diseases, Pedigree, MicroRNAs, Real-time polymerase chain reaction, Mutation testing, Female, hsa-miR-184, business, hereditary

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::975c0ffe5c30491475864d291c9569b5
https://pubmed.ncbi.nlm.nih.gov/23833072