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1دورية أكاديمية
المؤلفون: Namirah Iftikhar, Osama Khalid, Uzma Ghori
المصدر: Journal of the Pakistan Medical Association, Vol 74, Iss 2 (2024)
مصطلحات موضوعية: Anterior neck space infections, Macroglossia, Sturge weber syndrome, Neurocutaneous disorder, Rare presentation in sturge weber, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Pramanik, Samarpita
المصدر: Asian Journal of Nursing Education and Research 11(2):285-288. 2021
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3دورية أكاديمية
المؤلفون: Low Qin Jian, Lim Tzyy Huei, Hon Shu Ann, Cheo Seng Wee, Noranizah Binti Wagino, Evelyn Yap Wen Lee
المصدر: Malaysian Family Physician, Vol 16, Iss 3, Pp 101-103 (2021)
مصطلحات موضوعية: melkersson-rosenthal syndrome, orofacial granulomatosis, neurocutaneous disorder, Medicine
وصف الملف: electronic resource
العلاقة: https://e-mfp.org/wp-content/uploads/v16n3-Cr-Erythematous-plaques.pdfTest; https://doaj.org/toc/1985-2274Test
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4دورية أكاديمية
المصدر: WORLD JOURNAL OF PEDIATRICS ; ISSN: 1708-8569 ; ISSN: 1867-0687
مصطلحات موضوعية: Medicine and Health Sciences, Capillary malformations, G-protein Gq-G11, Port-wine birthmark, Neurocutaneous disorder, Sturge-Weber syndrome, PORT-WINE STAINS, DYE-LASER TREATMENT, DENTATE NUCLEUS, SIGNAL-INTENSITY, OCULAR MANIFESTATIONS, GLOBUS-PALLIDUS, TASK-FORCE, CHILDREN, SEIZURES, RISK
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01HX4538SHP1HSR4SK0C1F5VXPTest; http://hdl.handle.net/1854/LU-01HX4538SHP1HSR4SK0C1F5VXPTest; http://doi.org/10.1007/s12519-024-00809-yTest; https://biblio.ugent.be/publication/01HX4538SHP1HSR4SK0C1F5VXP/file/01HX454GMB1VPW0WPWTZZRTZFATest
الإتاحة: https://doi.org/10.1007/s12519-024-00809-yTest
https://biblio.ugent.be/publication/01HX4538SHP1HSR4SK0C1F5VXPTest
http://hdl.handle.net/1854/LU-01HX4538SHP1HSR4SK0C1F5VXPTest
https://biblio.ugent.be/publication/01HX4538SHP1HSR4SK0C1F5VXP/file/01HX454GMB1VPW0WPWTZZRTZFATest -
5دورية أكاديمية
المؤلفون: Aimen Malik, Arshia Akbar, Gohar Ashraf, Hammad Akram
المصدر: Apollo Medicine, Vol 18, Iss 3, Pp 208-211 (2021)
مصطلحات موضوعية: adolescents, angiofibroma, angiomyolipoma, autosomal dominant disorder, dermatology, genetic disorders, hamartomas, multisystem disorder, neurocutaneous disorder, rare diseases, skin patches, tuberous sclerosis complex, tuberous sclerosis complex criteria, Medicine
وصف الملف: electronic resource
العلاقة: http://www.apollomedicine.org/article.asp?issn=0976-0016;year=2021;volume=18;issue=3;spage=208;epage=211;aulast=MalikTest; https://doaj.org/toc/0976-0016Test; https://doaj.org/toc/2213-3682Test
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6دورية أكاديمية
المؤلفون: Evelyn Yap Wen Yee
المصدر: Malaysian Family Physician, Vol 16, Iss 2, Pp 70-72 (2021)
مصطلحات موضوعية: melkersson-rosenthal syndrome, orofacial granulomatosis, neurocutaneous disorder, Medicine
وصف الملف: electronic resource
العلاقة: https://e-mfp.org/wp-content/uploads/v16n2-CR-An-interesting-case-of-lip-swelling.pdfTest; https://doaj.org/toc/1985-2274Test
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7دورية أكاديمية
المؤلفون: Clévia Rosset, Mariane da Cunha Jaeger, Eduardo Filippi-Chiela, Larissa Brussa Reis, Ivaine Taís Sauthier Sartor, Cristina Brinckmann Oliveira Netto, Caroline Brunetto de Farias, Rafael Roesler, Patricia Ashton-Prolla
المصدر: Genetics and Molecular Biology, Vol 44, Iss 4 (2021)
مصطلحات موضوعية: Autophagy, mTOR inhibitors, neurocutaneous disorder, Rapamycin, Tuberous Sclerosis Complex, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000600701&tlng=enTest; https://doaj.org/toc/1678-4685Test
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8دورية أكاديمية
المؤلفون: Rosset, Clévia, Jaeger, Mariane da Cunha, Chiela, Eduardo Cremonese Filippi, Reis, Larissa Brussa, Sartor, Ivaine Tais Sauthier, Netto, Cristina Brinckmann Oliveira, Farias, Caroline Brunetto de, Roesler, Rafael, Prolla, Patrícia Ashton
مصطلحات موضوعية: Esclerose tuberosa, Alvo mecanístico do complexo 1 de rapamicina, Sobrevivência celular, Ciclo celular, Autofagia, Autophagy, MTOR inhibitors, Neurocutaneous disorder, Rapamycin, Tuberous Sclerosis Complex
وصف الملف: application/pdf
العلاقة: Genetics and molecular biology. Ribeirão Preto. Vol. 44, no. 4 (2021), e20200475, 8 p.; http://hdl.handle.net/10183/233840Test; 001135318
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9دورية أكاديمية
المصدر: International Journal of Contemporary Pediatrics; Vol. 7 No. 11 (2020): November 2020; 2239-2242 ; 2349-3291 ; 2349-3283
مصطلحات موضوعية: Bloch-sulzberger disease, Incontinentia pigmenti, Neonatal seizures, Neurocutaneous disorder, X linked dominant
وصف الملف: application/pdf
العلاقة: https://www.ijpediatrics.com/index.php/ijcp/article/view/3686/2469Test; https://www.ijpediatrics.com/index.php/ijcp/article/view/3686Test
الإتاحة: https://doi.org/10.18203/2349-3291.ijcp20204552Test
https://www.ijpediatrics.com/index.php/ijcp/article/view/3686Test -
10دورية أكاديمية
المؤلفون: Mohamed, Miski, Gardeitchik, Thatjana, Balasubramaniam, Shanti, Guerrero‐Castillo, Sergio, Dalloyaux, Daisy, Kraaij, Sanne, Venselaar, Hanka, Hoischen, Alexander, Urban, Zsolt, Brandt, Ulrich, Al‐Shawi, Raya, Simons, J. Paul, Frison, Michele, Ngu, Lock‐Hock, Callewaert, Bert, Spelbrink, Hans, Kallemeijn, Wouter W., Aerts, Johannes M. F. G., Waugh, Mark G., Morava, Eva, Wevers, Ron A.
المصدر: JOURNAL OF INHERITED METABOLIC DISEASE ; ISSN: 0141-8955 ; ISSN: 1573-2665
مصطلحات موضوعية: Medicine and Health Sciences, Genetics(clinical), Genetics, choreoathetosis, cutis laxa, inborn error of metabolism, movement disorder, neurocutaneous disorder, neurometabolism, phosphatidyl inositol, GLUCOCEREBROSIDASE, MUTATIONS, TRAFFICKING, PTDINS(4)P
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8686020Test; http://hdl.handle.net/1854/LU-8686020Test; http://dx.doi.org/10.1002/jimd.12255Test; https://biblio.ugent.be/publication/8686020/file/8686022Test
الإتاحة: https://doi.org/10.1002/jimd.12255Test
https://biblio.ugent.be/publication/8686020Test
http://hdl.handle.net/1854/LU-8686020Test
https://biblio.ugent.be/publication/8686020/file/8686022Test