المؤلفون: Antico, Alice^{Aff1, Aff2}, Vitulli, Francesca^{Aff1, Aff3, IDs00381023062324_cor2}, Rossi, Andrea^{Aff4, Aff5}, Gaggero, Gabriele, Piatelli, Gianluca, Consales, Alessandro

المصدر: Child's Nervous System. 40(1):27-39

المؤلفون: Tantibhaedhyangkul, Worasap^{Aff1, Aff2}, Tantrapornpong, Jenjira, Yutchawit, Nuttanun, Theerapanon, Thanakorn, Intarak, Narin, Thaweesapphithak, Sermporn, Porntaveetus, Thantrira^{Aff1, IDs0078402305194w_cor7}, Shotelersuk, Vorasuk^{Aff3, Aff4}

المصدر: Clinical Oral Investigations. 27(10):5827-5839

المؤلفون: Canavese, Federico^Aff3

المساهمون: Longo, Umile Giuseppe, editor^Aff1, Denaro, Vincenzo, editor^Aff2

المصدر: Textbook of Musculoskeletal Disorders. :77-90

المؤلفون: Pelin Kıyat, Dilek Top Kartı, Özgür Esen, Ömer Kartı

المصدر: Türk Oftalmoloji Dergisi, Vol 53, Iss 1, Pp 70-73 (2023)

مصطلحات موضوعية: compressive optic neuropathy, glaucoma, sphenoid bone dysplasia, Medicine, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.oftalmoloji.org/archives/archive-detail/article-preview/sphenoid-bone-dysplasia-a-rare-cause-of-compressiv/58688; https://doaj.org/toc/1300-0659; https://doaj.org/toc/2147-2661

URL الوصول: https://doaj.org/article/8a94f473b8c7419389a14669dc53ac25

المؤلفون: Hammarsjö, A., Pettersson, M., Chitayat, D., Handa, A., Anderlid, B. -M, Bartocci, M., Basel, D., Batkovskyte, D., Beleza-Meireles, A., Conner, P., Eisfeldt, J., Girisha, K. M., Chung, B. H. -Y, Horemuzova, E., Hyodo, H., Korņejeva, L., Lagerstedt-Robinson, K., Lin, A. E., Magnusson, M., Moosa, S., Nayak, S. S., Nilsson, D., Ohashi, H., Ohashi-Fukuda, N., Stranneheim, H., Taylan, F., Traberg, R., Voss, U., Wirta, Valtteri, Nordgren, A., Nishimura, G., Lindstrand, A., Grigelioniene, G.

المصدر: Journal of Human Genetics. 66(10):995-1008

مصطلحات موضوعية: c2cd3 protein, complementary DNA, dync2h1 protein, evc protein, evc2 protein, genomic DNA, ift74 protein, kiaa0753 protein, protein, ttc21b protein, unclassified drug, wdr19 protein, C2cd3 protein, human, cytoplasmic dynein, cytoskeleton protein, DYNC2H1 protein, EVC protein, EVC2 protein, isoprotein, KIAA0753 protein, membrane protein, microtubule associated protein, signal peptide, TTC21B protein, WDR19 protein, adolescent, adult, amino terminal sequence, Article, asphyxiating thoracic dystrophy, blood sampling, child, chondrodysplasia, chromosome 1q, chromosome 1q24q25, ciliopathy, clinical article, clinical feature, cohort analysis, comparative genomic hybridization, computer model, controlled study, copy number variation, cranioectodermal dysplasia, developmental delay, diagnostic value, DNA extraction, DNA sequencing, DNA splicing, Ellis van Creveld syndrome, exon, female, fetus, fetus lung, gene deletion, gene expression, gene sequence, genetic screening, human tissue, infant, Joubert syndrome, lung parenchyma, male, molecular diagnosis, nephronophthisis, newborn, pedigree, phenotype, preschool child, retrospective study, RNA analysis, school child, short rib polydactyly syndrome type 3, single nucleotide polymorphism, skeleton malformation, transcription initiation site, whole exome sequencing, whole genome sequencing, aged, bone dysplasia, genetic predisposition, genetics, high throughput sequencing, human genome, metabolism, middle aged, pathology, skeletal muscle, Bone Diseases, Developmental, Ciliopathies, Cytoplasmic Dyneins, Cytoskeletal Proteins, Genetic Predisposition to Disease, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Intercellular Signaling Peptides and Proteins, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Microtubule-Associated Proteins, Muscle, Skeletal, Protein Isoforms

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-309162
https://doi.org/10.1038/s10038-021-00925-x

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

المؤلفون: Delgado Rubio, Alfonso^{Aff4, Aff5}, Arcangeli, Fabio^Aff6

المساهمون: Norman, Robert A., Series Editor^Aff1, Lotti, Torello M., editor^Aff2, Arcangeli, Fabio, editor^Aff3

المصدر: Clinical Cases in Middle-Years Pediatric Dermatology. :155-159

المؤلفون: Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Débora Bertola, Charles Marques Lourenço, Denise Pontes Cavalcanti, Têmis Maria Félix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flávia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela

المصدر: BMC Pediatrics, Vol 22, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Dwarfism, Management, Medical practice, FGFR3, Bone dysplasia, Guideline, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/6cb774ce002b42298b2e3017d9bdf78b

المؤلفون: sabry nasr ahmed, hussain parappil

المصدر: Journal of Clinical and Basic Research, Vol 6, Iss 3, Pp 27-29 (2022)

مصطلحات موضوعية: anomalies, autosomal recessive, bent bone dysplasia, stüve-wiedemann syndrome, Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: http://jcbr.goums.ac.ir/article-1-374-en.pdf; https://doaj.org/toc/2538-3736

URL الوصول: https://doaj.org/article/c1cfa8363e5f4b65b85b0d9aef80ce77

المؤلفون: Jiayong Zhu, Xiaoqi Zhao, Hui Wang, Hao Xiao, Liaobin Chen

المصدر: Frontiers in Pharmacology, Vol 14 (2023)

مصطلحات موضوعية: dexamethasone, trans-differentiation, hypertrophic chondrocytes, osteoblasts, bone dysplasia, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2023.1120041/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/fe903cd6d2ac4e6390938e856bacee35