المؤلفون: Du N, Wang X, Wang Z, Liu H, Duan H, Zhao S, Banerjee S, Zhang X

المصدر: The Application of Clinical Genetics, Vol Volume 17, Pp 71-84 (2024)

مصطلحات موضوعية: charcot-marie-tooth disease, mtmr2 gene, novel mutation, homozygous, whole exome sequencing, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/identification-of-a-novel-homozygous-mutation-in-mtmr2-gene-causes-ver-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/4f5943f23c1f4e86944e2eed85b4b6fe

المؤلفون: Patrick Scott, Zandre Bruwer, Khalsa Al-Kharusi, Douja Meftah, Fathiya Al-Murshedi

المصدر: Oman Medical Journal, Vol 31, Iss 3, Pp 227-230 (2016)

مصطلحات موضوعية: Optic Neuritis, Schwannoma, Charcot-Marie-Tooth Disease, Type 4B1, Mutation, MTMR2 Gene, Medicine

وصف الملف: electronic resource

Relation: http://www.omjournal.org/fultext_PDF.aspx?DetailsID=766&pdf=images/766_M_Deatials_Pdf_.pdf&type=pdf; https://doaj.org/toc/1999-768X; https://doaj.org/toc/2070-5204

URL الوصول: https://doaj.org/article/447cd2bb9eac469bb1ef7adccb77835f

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المؤلفون: Sarah Leonard-Louis, Raquel Guimarães-Costa, Arnaud Lacour, Isabelle Husson, Guilhem Solé, Philippe Latour, Tanya Stojkovic, Rocío-Nur Villar-Quiles

المساهمون: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), CHU Bordeaux [Bordeaux], Service de neuropédiatrie et maladies métaboliques [CHU Robert-Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU)

المصدر: Neuromuscular Disorders
Neuromuscular Disorders, 2020, 30 (7), pp.576-582. ⟨10.1016/j.nmd.2020.05.003⟩
Neuromuscular Disorders, Elsevier, 2020, 30 (7), pp.576-582. ⟨10.1016/j.nmd.2020.05.003⟩

مصطلحات موضوعية: 0301 basic medicine, Weakness, Pediatrics, medicine.medical_specialty, Usher syndrome, [SDV]Life Sciences [q-bio], 03 medical and health sciences, 0302 clinical medicine, Retinitis pigmentosa, medicine, Foot deformity, Genetics (clinical), MTMR2 gene, Bilateral facial palsy, business.industry, CMT, Disease progression, Confounding, medicine.disease, 3. Good health, Neuropathy, 030104 developmental biology, Neurology, Bulbar and facial weakness, Pediatrics, Perinatology and Child Health, Neurology (clinical), Presentation (obstetrics), medicine.symptom, business, Chiari Syndrome, 030217 neurology & neurosurgery, Usher

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af203985127c129e204fb1cb3795a009
https://hal.sorbonne-universite.fr/hal-02946406

المؤلفون: Fathiya Al-Murshedi, Douja Meftah, Patrick Scott, Zandre Bruwer, Khalsa Al-Kharusi

المصدر: Oman Medical Journal, Vol 31, Iss 3, Pp 227-230 (2016)

مصطلحات موضوعية: 0301 basic medicine, Proband, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Optic Neuritis, Schwannoma, media_common.quotation_subject, Type 4B1, Nonsense, lcsh:Medicine, Case Report, Cervical cord, Disease, MTMR2 Gene, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, otorhinolaryngologic diseases, Optic neuritis, media_common, business.industry, lcsh:R, Facial weakness, General Medicine, medicine.disease, Dermatology, Surgery, nervous system diseases, 030104 developmental biology, Mutation, medicine.symptom, business, Vocal cord paresis, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65fbab02a7c33108c7f9f8fdf72567bd
http://www.omjournal.org/fultext_PDF.aspx?DetailsID=766&pdf=images/766_M_Deatials_Pdf_.pdf&type=pdf

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