المؤلفون: Sönmez, Hafize Emine, Savaş, Merve, Aliyeva, Bülbül, Deniz, Adnan, Güngör, Mesut, Anık, Yonca, Kara, Bülent

المساهمون: Savaş, Merve

مصطلحات موضوعية: Anakinra, Beyin hacimsel çalışmaları, Brain volumetric studies, Subkortikal kistlerle birlikte megalensefalik lökoensefalopati, Megalencephalic leukoencephalopathy with subcortical cysts, MLC1 geni, MLC1 gene

وصف الملف: application/pdf

Relation: Pediatric Neurology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Sönmez, H. E., Savaş, M., Aliyeva, B., Deniz, A., Güngör, M., Anık, Y., & Kara, B. (2023). The Effect of Interleukin-1 Antagonists on Brain Volume and Cognitive Function in Two Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts. Pediatric neurology, 144, 72–77. https://doi.org/10.1016/j.pediatrneurol.2023.04.008; https://hdl.handle.net/20.500.12900/269; 144; 72; 77

الاتاحة: https://hdl.handle.net/20.500.12900/269

المؤلفون: Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir, Henry Houlden

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Intellectual disability, VPS53 gene, GLB1 gene, MLC1 gene, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-00998-z; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/e12db3ed56af4fa8b96452f503099b00

المؤلفون: Türkyılmaz A, Ünver O, Ekinci G, Türkdoğan D

المصدر: Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 89-92 (2019)

مصطلحات موضوعية: cdna sequencing, exon skipping, leuko-encephalopathy, mlc1 gene, splice-site mutation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/a81d31e7ccd542ca93e6f1b0d9ec16ed

المؤلفون: Ilyas, M, Efthymiou, S, Salpietro, V, Noureen, N, Zafar, F, Rauf, S, Mir, A, Houlden, H

المصدر: BMC Medical Genetics , 21 , Article 59. (2020)

مصطلحات موضوعية: Intellectual disability, VPS53 gene, GLB1 gene, MLC1 gene, Whole exome sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10094879/1/s12881-020-00998-z.pdf; https://discovery.ucl.ac.uk/id/eprint/10094879/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10094879/1/s12881-020-00998-z.pdf
https://discovery.ucl.ac.uk/id/eprint/10094879/

المؤلفون: Ayberk Türkyılmaz, Olcay Ünver, Gazenfer Ekinci, Dilsad Turkdogan

المساهمون: Turkyilmaz, A., Unver, O., Ekinci, G., Turkdogan, D.

المصدر: Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 89-92 (2019)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Megalencephalic leukoencephalopathy with subcortical cysts, Splice site mutation, Cerebellar ataxia, cDNA sequencing, business.industry, Macrocephaly, Case Report, Neurological disorder, QH426-470, MLC1 gene, medicine.disease, Exon skipping, Leukoencephalopathy, Exon, Leuko-encephalopathy, medicine, Genetics, medicine.symptom, business, Splice-site mutation, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::698cec7147d77102a8be0c81a5d8949b
http://europepmc.org/articles/PMC6956632

المؤلفون: Mohammad Hamid, Gholamreza Shariati, Behnaz Andashti, Alihossein Saberi, Hamid Galehdari

المصدر: Clinical Case Reports

مصطلحات موضوعية: leukodystrophy, Pathology, medicine.medical_specialty, Megalencephalic leukoencephalopathy with subcortical cysts, medicine.diagnostic_test, business.industry, Leukodystrophy, Macrocephaly, Magnetic resonance imaging, Prenatal diagnosis, Case Reports, General Medicine, Neurological disorder, MLC1 gene, medicine.disease, Seizure recurrence, Leukoencephalopathy, medicine, novel mutation, medicine.symptom, Iranian, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3097cc7d17701266f53ae5148e988940
https://doi.org/10.1002/ccr3.168

المؤلفون: Soysal, Zeyneb, Okur, Murat, Eröz, Recep, Gün, Emrah, Kocabay, Kenan, Beşir, Fahri Halit

المساهمون: DÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

مصطلحات موضوعية: Macrocephaly, MLC1 gene, Neurodegenerative disorder, Subcortical cysts, Van der Knaap disease

Relation: Genetic Counseling; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/20.500.12684/435; 26; 233; 236

الاتاحة: https://hdl.handle.net/20.500.12684/435

المؤلفون: Soysal, Zeyneb, Okur, Murat, Eröz, Recep, Gün, Emrah, Kocabay, Kenan, Beşir, Fahri Halit

المساهمون: DÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

مصطلحات موضوعية: Macrocephaly, MLC1 gene, Neurodegenerative disorder, Subcortical cysts, Van der Knaap disease

Relation: Genetic Counseling; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/20.500.12684/3675; 26; 233; 236

الاتاحة: https://hdl.handle.net/20.500.12684/3675

المؤلفون: Ashrafi, Mahmoud Reza, Kariminejad, Ariana, Alizadeh, Houman, Bozorgmehr, Bita, Amoeian, Sepideh, Kariminejad, Mohammad-Hasan

مصطلحات موضوعية: Macrocephaly, Leukoencephalopathy, Megalencephaly, MLC1 gene

Relation: http://hdl.handle.net/1807/58955; http://www.bioline.org.br/abstract?id=pe09054; http://www.bioline.org.br/pe; http://diglib.tums.ac.ir/pub/

الاتاحة: http://hdl.handle.net/1807/58955
http://www.bioline.org.br/abstract?id=pe09054
http://www.bioline.org.br/pe
http://diglib.tums.ac.ir/pub/

المؤلفون: Uluç Yiş, Gert C. Scheper, Nedret Uran, Aycan Ünalp, An Çakmakçı

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.turkishjournalpediatrics.org/pediatrics/pdf/pdf_TJP_761.pdf.

مصطلحات موضوعية: Key words, megalencephalic leukoencephalopathy, subcortical cysts, MLC1 gene, Turkish population. Megalencephalic leukoencephalopathy with

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.589.3568; http://www.turkishjournalpediatrics.org/pediatrics/pdf/pdf_TJP_761.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.589.3568
http://www.turkishjournalpediatrics.org/pediatrics/pdf/pdf_TJP_761.pdf