دوريات أكاديمية 27 رسائل جامعية 1 الفيديوهات 1

علم الوراثة 22 الطب 22 البشر 14 genetics (clinical) 13 03 medical and health sciences 12 exome sequencing 11 medicine.disease 11 0301 basic medicine 9 030104 developmental biology 9 علم الأحياء 9 الأعمال 9 business.industry 9 female 9 male 8 0302 clinical medicine 7 adult 7 mutation 7 rare diseases 7 child 6 phenotype 6 qh426-470 6 [sdv.mhep]life sciences [q-bio]/human health and pathology 5 030217 neurology & neurosurgery 5 3. good health 5 مقالة 5 general medicine 5 medicine.medical_specialty 5 missense mutation 5 neurology (clinical) 5 systematic literature reviews 5 adolescent 4 genotype-phenotype correlation 4 intellectual disability 4 medicine.symptom 4 medizin 4 pedigree 4 [sdv.mhep.aha]life sciences [q-bio]/human health and pathology/tissues and organs [q-bio.to] 3 0303 health sciences 3 biological sciences 3 biology.protein 3 biotechnology 3 brief communication 3 السرطان 3 chemical sciences not elsewhere classified 3 clinical neuroscience 3 data sharing 3 data visualization 3 الإعاقات النمائية 3 diagnostic tests (erg 3 ectodermal dysplasia 3

إلزيفير 7 hal ccsd 6  مجموعة ناتشر للنشر 6 elsevier bv 5 bmc 4 springer science and business media llc 3 معهد النشر الرقمي متعدد التخصصات (MDPI) 2 north american neuro-ophthalmology society 2 the university of edinburgh 2 georg thieme verlag kg 1 مطبعة معهد الفيزياء (آي أو بي) 1 jstor 1  ليبينكوت ويليامز ويلكنز 1 معهد النشر الرقمي متعدد التخصصات (MDPI) 1 multidisciplinary digital publishing institute 1 nature portfolio 1 spencer s. eccles health sciences library, university of utah 1 springer international publishing 1 وايلي 1

الإنجليزية 33 غير محدد 15 unknown 4

issn: 1018-4813 6 orphanet journal of rare diseases 5 49th annual north american neuro-ophthalmology society annual meeting 2 2023 north american neuro-ophthalmology society annual meeting 1 american journal of medical genetics. part a 1 cell genomics 1 european journal of clinical investigation 1 european journal of human genetics 1 european journal of human genetics : ejhg 1 european journal of medical genetics 1 genes 1 hgg advances 1 iscience 1 journal of genetics and genomics 1 journal of neuromuscular diseases 1  اتصالات الطبيعة 1 neuromuscular disorders 1 neuropediatrics 1 the plant cell 1

OpenAIRE 23 BASE 22 دليل الدوريات المفتوحة 7

Directory Of Open Access Journals: Doaj Articles 6 Smithsonian Institution: Digital Repository 3 The University Of Utah: J. Willard Marriott Digital Library 3 Archive Ouverte Hal (Hyper Article En Ligne, Ccsd - Centre Pour La Communication Scientifique Directe) 2 Citeseerx 2 Inserm: Hal (Institut National De La Sante Et De La Recherche Medicale) 1 Mdpi Open Access Publishing 1 University Of Edinburgh: Edinburgh Research Archive (Era) 1