المؤلفون: Toskov, Vasil, Kaiser-Labusch, Petra, Lee-Kirsch, Min Ae, Ehl, Stephan^{Aff4, IDs10875024017336_cor5}, Wegehaupt, Oliver^{Aff1, Aff4, IDs10875024017336_cor6}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 44(6)

المؤلفون: Samin Alavi, Mitra Khalili, Paniz Mirmoghaddam, Sharareh Kamfar, Negar Shams

المصدر: Clinical Case Reports, Vol 12, Iss 5, Pp n/a-n/a (2024)

مصطلحات موضوعية: CNS vasculopathy, microcephalic primordial dwarfism, moyamoya disease, non‐moyamoya vessel network, Seckel syndrome, stroke, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/ce9bf69eeda543f5aa264293ebd98ca8

المؤلفون: Divya Agarwal, I P S. Kochar, Vineet Bhushan Gupta, Kriti Menon

المصدر: Apollo Medicine, Vol 20, Iss 2, Pp 93-100 (2023)

مصطلحات موضوعية: achondroplasia, noonan, primordial dwarfism, short stature, skeletal dysplasia, Medicine

وصف الملف: electronic resource

Relation: http://www.apollomedicine.org/article.asp?issn=0976-0016;year=2023;volume=20;issue=2;spage=93;epage=100;aulast=Agarwal; https://doaj.org/toc/0976-0016; https://doaj.org/toc/2213-3682

URL الوصول: https://doaj.org/article/46bbc2e1b5244d279f70b46e1fc30e00

المؤلفون: Bahareh Nazemi Salman, Nazila Biglar, Masoumeh Mirkeshavarz, Ghasem Ansari

المصدر: Journal of Pediatrics Review, Vol 10, Iss 4, Pp 321-330 (2022)

مصطلحات موضوعية: growth disorders, dwarfism, microcephalic osteodysplastic primordial dwarfism, type ii, child, dental, pediatric dentistry, pericentrin, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://jpr.mazums.ac.ir/article-1-479-en.html; https://doaj.org/toc/2322-4398; https://doaj.org/toc/2322-4401

URL الوصول: https://doaj.org/article/b01e8ec4fe4f4bb898cb9398b4a3cd4f

المؤلفون: Maddalena Petraroli, Antonio Percesepe, Maria Piane, Francesca Ormitti, Eleonora Castellone, Margherita Gnocchi, Giulia Messina, Luca Bernardi, Viviana Dora Patianna, Susanna Maria Roberta Esposito, Maria Elisabeth Street

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: growth, microcephalic osteodysplastic primordial dwarfism, cerebral aneurysms, bone dysplasia, short stature, PCNT gene, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1018441/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/f24d572c0398421a9619fc85829b2b1f

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المؤلفون: Wenjiao Zhu, Yuanping Shi, Changrun Zhang, Yajie Peng, Yueyue Wan, Yue Xu, Xuemeng Liu, Bing Han, Shuangxia Zhao, Yanping Kuang, Huaidong Song, Jie Qiao

المصدر: Clinical and Translational Medicine, Vol 13, Iss 1, Pp n/a-n/a (2023)

مصطلحات موضوعية: insulin resistance, primordial dwarfism, SMC5 mutation, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2001-1326

URL الوصول: https://doaj.org/article/7c6e0b32971b40e0b4f73b20cea53c84

المؤلفون: Khojah, Osama^{Aff1, Aff2, IDs00381021052848_cor1}, Alamoudi, Saeed^{Aff1, Aff2}, Aldawsari, Nouf, Babgi, Mohammed^{Aff1, Aff4}, Lary, Ahmed^{Aff1, Aff2, Aff3}

المصدر: Child's Nervous System. 37(12):3847-3860

المؤلفون: Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll, Michael B. Bober

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: MOPDII, Primordial dwarfism, Vascular disease, Moyamoya, Aneurysm, Stroke, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/192b518261284b67aa8698531fe44ec0

المؤلفون: Hyun Chung, MD, Soo Yeon Kim, MD, Jeehoon Kang, MD, Ji Hoon Phi, MD, PhD, Woong-Han Kim, MD, PhD, Sei Won Yang, MD, PhD, Hye Won Kwon, MD, Sang Yoon Lee, MD, PhD, Gi Beom Kim, MD, PhD, Eun Jung Bae, MD, PhD, Mi Kyoung Song, MD, Jong-Hee Chae, MD, PhD

المصدر: JACC: Case Reports, Vol 3, Iss 5, Pp 795-800 (2021)

مصطلحات موضوعية: coronary artery disease, insulin resistance, pediatric, primordial dwarfism, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666084921003065; https://doaj.org/toc/2666-0849

URL الوصول: https://doaj.org/article/23cce14af2c7417793f512d82004438f