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1
المؤلفون: Süleyman Serdar Koca, Sheela Nampoothiri, Meenakshi Bhat, Dhanya Yesodharan, Chandrababu Kk, Jules G. Leroy, Michael J. Friez, Sara Cathey, Mahesh Kappanayil, Andrea Superti-Furga, Nursel Elcioglu, Natasha Radhakrishnan, Mohandas Nair K, Richard M. Pauli, Vinod Krishnan, Sheila Unger, Jayesh Sheth, Francisca Coutinho, Sandra Alves
المصدر: Clinical dysmorphology. 28(1)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Mucolipidosis-IIIαβ, Consanguinity, Clawing of Fingers, GNPTG, Pathology and Forensic Medicine, Cohort Studies, Young Adult, Mucolipidoses, Hypertrophy of Forearm, Genotype, Medicine, Humans, Young adult, Child, Genetics (clinical), business.industry, Mucolipidosis, General Medicine, medicine.disease, Carpal Tunnel Syndrome, Doenças Genéticas, Lysosomal Storage Diseases, Genu Valgum, Phenotype, Rheumatoid arthritis, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Mucolipidosis IIIγ, Female, Anatomy, business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c79709b2bef5c0bbb68f88e53dbdd9Test
https://pubmed.ncbi.nlm.nih.gov/30507725Test -
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المؤلفون: Swathi Shetty, Sanjeeva Gn, Abhilash Dwarakanathan, Meenakshi Bhat
المصدر: Clinical dysmorphology. 24(4)
مصطلحات موضوعية: Male, Foot Deformities, Congenital, Mutation, Missense, India, Oculodentodigital dysplasia, Pathology and Forensic Medicine, Craniofacial Abnormalities, Medicine, Missense mutation, Humans, Eye Abnormalities, Child, Genetics (clinical), Sequence Deletion, Genetics, business.industry, Tooth Abnormalities, General Medicine, medicine.disease, Deletion mutation, Child, Preschool, Connexin 43, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Syndactyly, Anatomy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a56a437ecf69203f3fecd18ceb4c1fTest
https://pubmed.ncbi.nlm.nih.gov/26087145Test