يعرض 1 - 10 نتائج من 236 نتيجة بحث عن '"Nanisme"', وقت الاستعلام: 1.31s تنقيح النتائج
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    دورية أكاديمية

    المؤلفون: Laurin, Michel

    المساهمون: Centre de Recherche en Paléontologie - Paris (CR2P), Muséum national d'Histoire naturelle (MNHN)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Subvention récurrente du CR2P.

    المصدر: ISSN: 0758-4113 ; Bulletin de la société d'histoire naturelle de Toulouse ; https://hal.science/hal-04521980Test ; Bulletin de la société d'histoire naturelle de Toulouse, 2023, 159, pp.159-170 ; https://shnt.frTest/.

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    دورية أكاديمية

    المساهمون: Institut Català de la Salut, Cali E Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Suri M Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom. Scala M Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Ferla MP Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom. Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom. Alavi S Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran. Palindrome, Isfahan, Iran. Faqeih EA Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia. Valenzuela I Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia

    وصف الملف: application/pdf; image/jpeg; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

    العلاقة: Genetics in Medicine;25(1); https://doi.org/10.1016/j.gim.2022.09.016Test; Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, et al. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genet Med. 2023 Jan;25(1):135–42.; https://hdl.handle.net/11351/9325Test; 000928239000001

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    دورية أكاديمية
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    دورية أكاديمية
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    دورية أكاديمية
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    دورية أكاديمية
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    المؤلفون: Dibas-Franck, Axelle

    المساهمون: Aix-Marseille Université - École de médecine (AMU SMPM MED), Aix-Marseille Université - Faculté des sciences médicales et paramédicales (AMU SMPM), Aix Marseille Université (AMU)-Aix Marseille Université (AMU), Rachel Reynaud

    المصدر: Sciences du Vivant [q-bio]. 2023

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    دورية أكاديمية
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    دورية أكاديمية