المؤلفون: Iman Elahi Vahed, Sahand Tehrani Fateh, Melika Kamali, Farzad Hashemi-Gorji, Zahra Esmaeilzadeh, Hossein Sadeghi, Mohammad Miryounesi, Mohammad-Reza Ghasemi

المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101125- (2024)

مصطلحات موضوعية: Schwartz-Jampel syndrome, HSPG2, Whole exome sequencing, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000788; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/ce2d039902564c5bb060b1e4c71b1f4e

المؤلفون: Panittra Suphatsathienkul, Kullasate Sakpichaisakul, Thanin Wechapinan, Objoon Trachoo, Sorawit Virawan, Rungsima Wanitphakdeedecha

المصدر: Dermatology and Therapy, Vol 14, Iss 2, Pp 545-556 (2024)

مصطلحات موضوعية: Schwartz-Jampel syndrome, Myotonia, Botulinum toxin, Blepharophimosis, HSPG2, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2193-8210; https://doaj.org/toc/2190-9172

URL الوصول: https://doaj.org/article/8856e5a2577c44798389ed35da09208d

المؤلفون: Deepali Bhalla, Sunil Sati, Donald Basel, Vijender Karody

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: Stüve–Wiedemann syndrome, JAK/STAT pathway, leukemia inhibitory factor receptor, skeletal dysplasia, Schwartz–Jampel syndrome Type 2, neonatal respiratory distress, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1341841/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/9b453f71684e4f27b922669aabc1eb1d

المؤلفون: Tessa R. Lavorgna, Timothy E. Gressett, Wesley H. Chastain, Gregory J. Bix

المصدر: Frontiers in Physiology, Vol 14 (2023)

مصطلحات موضوعية: Schwartz-Jampel Syndrome, perlecan, neurologic disease, alzheheimer’s disease, ischemic stroke, musculoskeletal disorders, Physiology, QP1-981

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphys.2023.1189731/full; https://doaj.org/toc/1664-042X

URL الوصول: https://doaj.org/article/801131b510b2466faea403c5e872c462

المؤلفون: Raffaella Brugnoni, Daria Marelli, Nicola Iacomino, Eleonora Canioni, Cristina Cappelletti, Lorenzo Maggi, Anna Ardissone

المصدر: Genes ; Volume 14 ; Issue 9 ; Pages: 1753

مصطلحات موضوعية: Schwartz–Jampel syndrome type 1, HSPG2 gene, perlecan

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/genes14091753

الاتاحة: https://doi.org/10.3390/genes14091753

المؤلفون: Yuri Yamashita, Satoshi Nakada, Kyoko Nakamura, Hidetoshi Sakurai, Kinji Ohno, Tomohide Goto, Yo Mabuchi, Chihiro Akazawa, Nobutaka Hattori, Eri Arikawa-Hirasawa

المصدر: Biomedicines; Volume 11; Issue 3; Pages: 814

مصطلحات موضوعية: Schwartz–Jampel syndrome, skeletal muscle, myotonia, perlecan, human-induced pluripotent stem cell, calcium imaging

وصف الملف: application/pdf

Relation: Cell Biology and Pathology; https://dx.doi.org/10.3390/biomedicines11030814

الاتاحة: https://doi.org/10.3390/biomedicines11030814

المؤلفون: Mevadee Pibulniyom, Patimaporn Pungchanchaikul, Thanate Assawakawintip, Supakit Peanchitlertkajorn

المصدر: Clinical Case Reports, Vol 8, Iss 12, Pp 2550-2553 (2020)

مصطلحات موضوعية: bimaxillary hypoplasia, case report, pediatric obstructive sleep apnea, posterior crossbite, Schwartz‐Jampel syndrome, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/9f76da0ecfd84bcbb1ed8a7c65521c81

المؤلفون: V. M. Kenis, V. N. Komantsev, A. Yu. Dimitrieva, E. V. Melchenko, E. S. Morenko

المصدر: Нервно-мышечные болезни, Vol 10, Iss 2, Pp 53-59 (2020)

مصطلحات موضوعية: chondrodystrophic myotonia, schwartz–jampel syndrome comprehensive diagnostics, surgical treatment, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/387; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/cf036b15e5bb4d5c92d638550a8f50ed

المؤلفون: Osama Shaalan, Mahmoud Daoud, Ashraf EL-Molla, Rashed Al-Otaibi, Abdulaleem Alatassi

المصدر: JA Clinical Reports, Vol 6, Iss 1, Pp 1-4 (2020)

مصطلحات موضوعية: Schwartz, Jampel Syndrome, Osteochondrodysplasias, Myotonia, Spinal Anesthesia, Anesthesiology, RD78.3-87.3, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40981-020-00357-0; https://doaj.org/toc/2363-9024

URL الوصول: https://doaj.org/article/a06eb54a5aaa46bc8c4a299af6ddab6e

المؤلفون: Jubara Alallah, Loujen Omar Alamoudi, Reham Mohmmed Makki, Aiman Shawli, Alaa T. AlHarbi

المصدر: International Journal of Pediatrics and Adolescent Medicine, Vol 9, Iss 2, Pp 143-146 (2022)

مصطلحات موضوعية: Stüve-Wiedemann syndrome, Schwartz Jampel syndrome, Skeletal dysplasia, Hypertonia, Hyperthermia, Pediatrics, RJ1-570

Relation: http://www.sciencedirect.com/science/article/pii/S2352646721000867; https://doaj.org/toc/2352-6467; https://doaj.org/article/13541ced89f242fcb110050ca52589b4

الاتاحة: https://doi.org/10.1016/j.ijpam.2021.10.002
https://doaj.org/article/13541ced89f242fcb110050ca52589b4

المؤلفون: Po-Yu Lin, Jia-Horung Hung, Chao-Kai Hsu, Yao-Tsung Chang, Yuan-Ting Sun

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: Schwartz–Jampel syndrome, heparan sulfate proteoglycan 2, perlecan, short exercise test, primary fibroblast, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.632336/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/7fa255bfef7b499d9180ea41548f6acc

المؤلفون: Ashutosh Parajuli, Shaopeng Pei, Hongbo Zhao, Jerahme R. Martinez, X. Lucas Lu, X. Sherry Liu, Mary C. Farach-Carson, Catherine B. Kirn-Safran, Liyun Wang

المصدر: Biomolecules; Volume 10; Issue 2; Pages: 198

مصطلحات موضوعية: perlecan, Schwartz-Jampel syndrome, trabecular bone, osteoporosis, osteoclastogenesis, hindlimb suspension, re-ambulation, micro-computed tomography

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/biom10020198

الاتاحة: https://doi.org/10.3390/biom10020198

المؤلفون: Keika Mukaihara, Kohei Godai, Tomotsugu Yamada, Maiko Hasegawa-Moriyama, Yuichi Kanmura

المصدر: JA Clinical Reports, Vol 2, Iss 1, Pp 1-4 (2016)

مصطلحات موضوعية: MultiViewScope, Schwartz–Jampel syndrome, Stylet scope, Anesthesiology, RD78.3-87.3, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40981-016-0062-5; https://doaj.org/toc/2363-9024

URL الوصول: https://doaj.org/article/3253c02d34114456b1991942ba9a5101

المؤلفون: Fernando Calado de Oliveira Camacho, Tânia Marina Lopes Amaral, Joana Irene de Barros Mourão

المصدر: Saudi Journal of Anaesthesia, Vol 12, Iss 1, Pp 128-130 (2018)

مصطلحات موضوعية: Difficult airway, malignant hyperthermia, Schwartz–Jampel syndrome, Anesthesiology, RD78.3-87.3

وصف الملف: electronic resource

Relation: http://www.saudija.org/article.asp?issn=1658-354X;year=2018;volume=12;issue=1;spage=128;epage=130;aulast=de; https://doaj.org/toc/1658-354X

URL الوصول: https://doaj.org/article/b73d3619cdeb4e8aae641dc6bbebde7d

المؤلفون: Bahram Eshraghi, Mahla Shadravan, Elham Aalami, Elias Khalili Pour

المصدر: Journal of Ophthalmic & Vision Research, Vol 11, Iss 3, Pp 329-332 (2016)

مصطلحات موضوعية: Blepharospasm, Orbicularis Oculi Myectomy, Schwartz Jampel Syndrome, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.jovr.org/article.asp?issn=2008-322X;year=2016;volume=11;issue=3;spage=329;epage=332;aulast=Eshraghi; https://doaj.org/toc/2008-322X

URL الوصول: https://doaj.org/article/96403e07c2d7424b8dd8ed07ec6dbd8c

المؤلفون: Martinez, Jerahme R., Dhawan, Akash, Farach-Carson, Mary C.

مصطلحات موضوعية: Schwartz-Jampel syndrome, dyssegmental dysplasia Silverman-Handmaker type, perlecan

وصف الملف: application/pdf

Relation: Martinez, Jerahme R., Dhawan, Akash and Farach-Carson, Mary C. "Modular Proteoglycan Perlecan/HSPG2: Mutations, Phenotypes, and Functions." Genes, 9, no. 11 (2018) MDPI: https://doi.org/10.3390/genes9110556.; https://hdl.handle.net/1911/105076; genes-09-00556; https://doi.org/10.3390/genes9110556

الاتاحة: https://hdl.handle.net/1911/105076
https://doi.org/10.3390/genes9110556

المؤلفون: Balal, Mehmet, Demir, Turgay, Koc, Filiz

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: Schwartz-Jampel Syndrome, Skeletal Deformity, Heparan Sulfate Proteoglycan 2, Perlecan Protein

Relation: JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.4328/JCAM.5515; https://hdl.handle.net/20.500.12605/9414; 168; 170

الاتاحة: https://hdl.handle.net/20.500.12605/9414
https://doi.org/10.4328/JCAM.5515

المؤلفون: N. A. Shnayder

المصدر: Нервно-мышечные болезни, Vol 0, Iss 2, Pp 29-39 (2015)

مصطلحات موضوعية: chondrodystrophic myotonia, schwartz–jampel syndrome, genetics, clinics, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/77; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/38f30351b4334437ab268232cca8ccef

المؤلفون: Włodzisław Kuliński, Mateusz Burak

المصدر: Studia Medyczne, Vol 30, Iss 4, Pp 261-264 (2015)

مصطلحات موضوعية: rehabilitation, physical therapy, Schwartz-Jampel syndrome, Medicine

وصف الملف: electronic resource

Relation: http://www.termedia.pl/Problems-in-physical-therapy-and-rehabilitation-in-Schwartz-Jampel-syndrome-case-study,67,24247,1,1.html; https://doaj.org/toc/1899-1874; https://doaj.org/toc/2300-6722

URL الوصول: https://doaj.org/article/e31663f6ed92444e9c3c4d6fcb22018c

المؤلفون: Magda Valentim Palassi Quintela, Alexsandro Oliveira, Estêvão Rios Monteiro, Barbara J. Hoogenboom, Ana Paula de Moraes Jorge

المصدر: Journal of Bodywork and Movement Therapies. 26:72-76

مصطلحات موضوعية: Complementary and Manual Therapy, 030222 orthopedics, medicine.medical_specialty, Rehabilitation, business.industry, Schwartz–Jampel syndrome, 3d analysis, medicine.medical_treatment, Physical Therapy, Sports Therapy and Rehabilitation, 030229 sport sciences, medicine.disease, Myotonia, stomatognathic diseases, 03 medical and health sciences, Facial dysmorphism, 0302 clinical medicine, Photogrammetry, Physical medicine and rehabilitation, Complementary and alternative medicine, Report (document), medicine, business, Muscle contracture

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a0bba50200dbd98ddbda7bd9d31f94ae
https://doi.org/10.1016/j.jbmt.2020.12.017