-
1
المؤلفون: Sadia Saeed, Lijiao Ning, Alaa Badreddine, Muhammad Usman Mirza, Mathilde Boissel, Roohia Khanam, Jaida Manzoor, Qasim M Janjua, Waqas I. Khan, Bénédicte Toussaint, Emmanuel Vaillant, Souhila Amanzougarene, Mehdi Derhourhi, John F Trant, Anna-Maria Siegert, Brian Y. H. Lam, Giles S.H. Yeo, Layachi Chabraoui, Asmae Touzani, Abhishek Kulkarni, I. Sadaf Farooqi, Amélie Bonnefond, Muhammad Arslan, Philippe Froguel
المصدر: Diabetes.
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af9660c24c88e25870fda43b98904f4a
https://doi.org/10.2337/db22-1017 -
2
المؤلفون: Philippe Froguel, Muhammad Arslan, Amélie Bonnefond, I. Sadaf Farooqi, Abhishek Kulkarni, Asmae Touzani, Layachi Chabraoui, Giles S.H. Yeo, Brian Y. H. Lam, Anna-Maria Siegert, John F Trant, Mehdi Derhourhi, Souhila Amanzougarene, Emmanuel Vaillant, Bénédicte Toussaint, Waqas I. Khan, Qasim M Janjua, Jaida Manzoor, Roohia Khanam, Mathilde Boissel, Muhammad Usman Mirza, Alaa Badreddine, Lijiao Ning, Sadia Saeed
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c723fe4a6cfa3973d43947a84428c8ef
https://doi.org/10.2337/figshare.22577353 -
3
المؤلفون: Sadia Saeed, Roohia Khanam, Qasim M. Janjua, Jaida Manzoor, Lijiao Ning, Sharoon Hanook, Mickaël Canouil, Muhammad Ali, Hina Ayesha, Waqas I. Khan, I. Sadaf Farooqi, Giles S.H. Yeo, Stephen O’Rahilly, Amélie Bonnefond, Taeed A. Butt, Muhammad Arslan, Philippe Froguel
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::342109fe0a29e661fb8df566b08ec7c0
https://doi.org/10.1101/2023.03.09.23286793 -
4
المؤلفون: Emmanuel Vaillant, Taeed A. Butt, Philippe Froguel, Sadia M. Din, Mehdi Derhourhi, Emmanuelle Durand, Hina Ayesha, Souhila Amanzougarene, Laraib Inam, Qasim M. Janjua, Muhammad Arslan, Qura-tul Ain, Stéphane Lobbens, Alaa Badreddine, Stefan Gaget, Jaida Manzoor, Amélie Bonnefond, Waqas I. Khan, Sadia Saeed, Lionel Berberian
المصدر: Diabetes. 69:1424-1438
مصطلحات موضوعية: Leptin, Male, 0301 basic medicine, Proband, Pediatric Obesity, Candidate gene, Adolescent, DNA Copy Number Variations, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Biology, Childhood obesity, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Prevalence, Internal Medicine, medicine, Humans, Copy-number variation, Child, Genetics, Point mutation, Infant, medicine.disease, Obesity, Obesity, Morbid, 030104 developmental biology, Child, Preschool, Mutation, Cohort, Receptor, Melanocortin, Type 4, Receptors, Leptin, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f268c1be90afddd68606594b9e08543f
https://doi.org/10.2337/db19-1238 -
5
المؤلفون: Philippe Froguel, Amélie Bonnefond, Taeed A. Butt, Waqas I. Khan, Stefan Gaget, Lionel Berberian, Alaa Badreddine, Souhila Amanzougarene, Mehdi Derhourhi, Emmanuelle Durand, Emmanuel Vaillant, Stephane Lobbens, Laraib Inam, Qura-tul Ain, Hina Ayesha, Qasim M. Janjua, Sadia M. Din, Jaida Manzoor, Muhammad Arslan, Sadia Saeed, Ada Admin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de4dcc2d3e954070e913fb2788d186de
https://doi.org/10.2337/figshare.12200843.v1 -
6
المؤلفون: Raphaël Boutry, Amar Abderrahmani, Philippe Froguel, Qasim M. Janjua, Sadia Saeed, Waqas I. Khan, Jochen Lang, Muhammad Usman Mirza, Emmanuelle Durand, Franck De Graeve, Taeed A. Butt, Olivier Sand, Jaida Manzoor, Muhammad Ali, G. Queniat, Julien Gaitan, Tuula Rinne, Amélie Bonnefond, Iandry Rabearivelo, Dina A. Schott, Connie T.R.M. Stumpel, Hina Ayesha, Alexandra Milochau, Emmanuel Vaillant, Sadia M. Din, Attiya Haseeb, Filippo Tamanini, Muhammad Arslan
المساهمون: Chimie et Biologie des Membranes et des Nanoobjets (CBMN), École Nationale d'Ingénieurs des Travaux Agricoles - Bordeaux (ENITAB)-Institut de Chimie du CNRS (INC)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica
المصدر: Nature Genetics, 50, 175
Nature Genetics
Nature Genetics, Nature Publishing Group, In press, 50 (2), pp.175-+. ⟨10.1038/s41588-017-0023-6⟩
Nature Genetics, 50(2), 175-179. Nature Publishing Group
Nature Genetics, 50, 2, pp. 175مصطلحات موضوعية: 0301 basic medicine, SUSCEPTIBILITY LOCI, Population, CHILDHOOD, 030209 endocrinology & metabolism, CHILDREN, Genome-wide association study, Biology, Compound heterozygosity, Genetic analysis, Energy homeostasis, EARLY-LIFE, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Genetics, medicine, Sequencing, Clinical genetics, GENOME-WIDE ASSOCIATION, education, Gene, EXENDIN-4, Loss function, 030304 developmental biology, Genetics & Heredity, education.field_of_study, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Science & Technology, Liraglutide, 11 Medical And Health Sciences, [CHIM.MATE]Chemical Sciences/Material chemistry, 06 Biological Sciences, Severe obesity, ADCY3, Early life, BODY-MASS INDEX, INDIVIDUALS, 030104 developmental biology, LIRAGLUTIDE, Susceptibility locus, POPULATIONS, Life Sciences & Biomedicine, Body mass index, 030217 neurology & neurosurgery, Developmental Biology, medicine.drug
-
7
المؤلفون: Amy Barrett, Sian Ellard, Syed Aman, Khadiga Y. Eltonbary, Hussein Alawneh, Irina Tiron, Kevin Colclough, Wojciech Młynarski, Sujatha M. Jagadeesh, Martijn van de Bunt, Kathryn Noyes, Andrew T. Hattersley, Neeta Deshpande, Sarah E. Flanagan, Teoman Akcay, Nancy Samir Elbarbary, Melanie Kershaw, Catherine J. Peters, Anne Raimondo, Mohammad A. Abduljabbar, Bilgin Yüksel, Waqas I. Khan, Alisson Chatelas, Huseyin Demirbilek, Nick Shaw, Parijat De, Soren K. Thomsen, Frank Eickmeier, Lesley Turner, Anna L. Gloyn, Mahmoud Al-Zyoud, Ali J. Chakera, Louise Bath, Doga Turkkahraman, Elisa De Franco, Erdem Durmaz, Marc Fillion
المساهمون: Çukurova Üniversitesi
المصدر: Human Molecular Genetics
مصطلحات موضوعية: Male, medicine.medical_specialty, Hot Temperature, Genotype, Mutation, Missense, Biology, medicine.disease_cause, Severity of Illness Index, Neonatal diabetes mellitus, Internal medicine, Diabetes mellitus, Enzyme Stability, Glucokinase, Diabetes Mellitus, Genetics, medicine, Birth Weight, Humans, Missense mutation, Age of Onset, Allele, Child, Molecular Biology, Genetics (clinical), Enzyme Assays, Mutation, Homozygote, Infant, Newborn, Infant, Articles, General Medicine, medicine.disease, Recombinant Proteins, 3. Good health, Kinetics, Phenotype, Endocrinology, Child, Preschool, Female, Age of onset
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::855640b90cb234214b4922385ed52f73
https://hdl.handle.net/20.500.12605/18560 -
8
المؤلفون: Kate Chandler, Waqas I Khan, Sahar Mansour, Faezeh Sakhinia, Dan Hanson, Emily Stratta, Emma Wakeling, Tessa Coulson, Sheela Nampoothiri, Elisabeth Rosser, Amit Sud, Peter E. Clayton, Indi Banerjee, Philip Murray, Graeme C.M. Black, Claire Bonshek, Atilano Carcavilla, Louise C. Wilson, Ajibola Omokanye, Samia A. Temtamy, Mona Aglan
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Male, MAPK/ERK pathway, medicine.medical_specialty, medicine.medical_treatment, STAT5B, Dwarfism, Biology, medicine.disease_cause, Endocrinology, Internal medicine, medicine, Humans, Insulin-Like Growth Factor I, Child, Fibroblast, Molecular Biology, Protein kinase B, Mutation, Growth factor, Infant, Cullin Proteins, medicine.disease, Spine, Cytoskeletal Proteins, medicine.anatomical_structure, Cell culture, Child, Preschool, Growth Hormone, 3-M syndrome, Muscle Hypotonia, Female, Carrier Proteins, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89174cdb1c635299d61c1afdffea76b2
http://www.scopus.com/inward/record.url?eid=2-s2.0-84875019580&partnerID=MN8TOARS
Find this article in full text from Springer Verlag.