-
1دورية أكاديمية
المؤلفون: Kunj Naik, Aditya Ganesh Garlapati, Shailaja Anand, Renu Magdum, Nilay Dhore
المصدر: Medical Journal of Dr. D.Y. Patil Vidyapeeth, Vol 16, Iss 7, Pp 136-139 (2023)
مصطلحات موضوعية: congenital corneal anesthesia, congenital insensitivity to pain with anhidrosis (cipa), hereditary sensory neuropathy type iv, hsan iv, hsnan4, Medicine
وصف الملف: electronic resource
-
2دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
3
المؤلفون: Veerle Van Gerwen, Nathalie Verpoorten, Eva Nelis, Willem F. M. Arts, Chantal Ceuterick-de Groote, Lieven Lagae, Liesbet Deprez, Linda De Meirleir, Peter De Jonghe, Kristl Claeys, Kathelijn Keymolen, An Jacobs, Vincent Timmerman
المساهمون: Pediatrics, Clinical sciences, Faculty of Medicine and Pharmacy
المصدر: Vrije Universiteit Brussel
Neuromuscular disordersمصطلحات موضوعية: Male, DNA Mutational Analysis, Mutation, Missense, Biology, Receptor tyrosine kinase, Linkage Disequilibrium, Frameshift mutation, Congenital insensitivity to pain with anhidrosis, Microscopy, Electron, Transmission, Hereditary sensory and autonomic neuropathy, medicine, Missense mutation, Humans, RNA, Messenger, Anhidrosis, Hereditary Sensory and Autonomic Neuropathies, Receptor, trkA, Child, Frameshift Mutation, Genetics (clinical), Skin, Genetics, Splice site mutation, neurotrophic tyrosine kinase receptor type 1 gene, Reverse Transcriptase Polymerase Chain Reaction, Genetic disorder, Infant, Exons, medicine.disease, Neurology, Case-Control Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), hereditary sensory neuropathy type IV, RNA Splice Sites, medicine.symptom