المؤلفون: Peshimam, N., Farah, H., Caswell, R., Ellard, S., Jan, W., Calder, A. D., Cobben, J., Kariholu, U., Leitch, H. G.

مصطلحات موضوعية: Humans, Infant, Newborn, Osteochondrodysplasias/diagnostic imaging/genetics, Radiography, Retrospective Studies, Siblings, Sedaghatian type, Skeletal dysplasia, Spondylometaphyseal dysplasia

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1769-7212Test(22)00122-7; Eur J Med Genet. 2022 Aug;65(8):104541. doi:10.1016/j.ejmg.2022.104541. Epub 2022 Jun 16.; https://rde.dspace-express.com/handle/11287/622649Test; European journal of medical genetics

الإتاحة: https://doi.org/10.1016/j.ejmg.2022.104541Test
https://rde.dspace-express.com/handle/11287/622649Test

المساهمون: College of Medicine, Dept. of Orthopedic Surgery, Yun-Jung Lim, Hye-Ran Lee, Ok-Hwa Kim, Tae-Joon Cho, Kun-Bo Park, Park, Kun Bo

مصطلحات موضوعية: Adolescent, Child, Diagnosis, Differential, Humans, Male, Osteochondrodysplasias/diagnostic imaging, Brachyolmia, Metaphyseal striations, TRPV4

العلاقة: SKELETAL RADIOLOGY; J02660; OAK-2017-04869; https://ir.ymlib.yonsei.ac.kr/handle/22282913/160795Test; https://link.springer.com/article/10.1007%2Fs00256-017-2684-8Test; T201703328; SKELETAL RADIOLOGY, Vol.46(9) : 1297-1300, 2017

الإتاحة: https://doi.org/10.1007/s00256-017-2684-8Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/160795Test

المساهمون: Tadashi Kaname, Chang-Seok Ki, Norio Niikawa, George S. Baillie, Jonathan P. Day, Ken-ichi Yamamura, Tohru Ohta, Gen Nishimura, Nobuo Mastuura, Ok-Hwa Kim, Young Bae Sohn, Hyun Woo Kim, Sung Yoon Cho, Ah-Ra Ko, Jin Young Lee, Hyun Wook Kim, Sung Ho Ryu, Hwanseok Rhee, Kap-Seok Yang, Keehyoung Joo, Jooyoung Lee, Chi Hwa Kim, Kwang-Hyun Cho, Dongsan Kim, Kumiko Yanagi, Kenji Naritomi, Ko-ichiro Yoshiura, Tatsuro Kondoh, Eiji Nii, Hidefumi Tonoki, Miles D. Houslaya, Dong-Kyu Jin, Kim, Hyun Woo

مصطلحات موضوعية: Adolescent, Adult, Amino Acid Substitution, Animals, Child, Preschool, Cyclic AMP-Dependent Protein Kinases/chemistry, Cyclic AMP-Dependent Protein Kinases/genetics, Cyclic AMP-Dependent Protein Kinases/metabolism, Cyclic Nucleotide Phosphodiesterases, Type 4*/chemistry, Type 4*/genetics, Type 4*/metabolism, Dysostoses*/diagnostic imaging, Dysostoses*/enzymology, Dysostoses*/genetics, Female, HEK293 Cells, Heterozygote, Humans, Intellectual Disability*/diagnostic imaging, Intellectual Disability*/enzymology, Intellectual Disability*/genetics, Male, Molecular Docking Simulation, Mutation, Missense, Osteochondrodysplasias*/diagnostic imaging, Osteochondrodysplasias*/enzymology, Osteochondrodysplasias*/genetics

وصف الملف: 2446~2459

العلاقة: CELLULAR SIGNALLING; J00502; OAK-2014-02886; https://ir.ymlib.yonsei.ac.kr/handle/22282913/138619Test; http://www.sciencedirect.com/science/article/pii/S0898656814002472Test; T201405120; CELLULAR SIGNALLING, Vol.26(11) : 2446-2459, 2014

الإتاحة: https://doi.org/10.1016/j.cellsig.2014.07.025Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/138619Test
http://www.sciencedirect.com/science/article/pii/S0898656814002472Test

المؤلفون: Dahl, M, Birkebaek, N H, Rungby, J, Herlin, T

المصدر: Ugeskrift for Laeger. 161(26):3996

المساهمون: Ok-Hwa Kim, Hyunwoong Park, Moon-Woo Seong, Tae-Joon Cho, Gen Nishimura, Andrea Superti-Furga, Sheila Unger, Shiro Ikegawa, In Ho Choi, Hae-Ryong Song, Hyun Woo Kim, Won Joon Yoo, Jong Sup Shim, Chin Youb Chung, Chang-Wug Oh, Changhoon Jeong, Kwang Soon Song, Sang Gyo Seo, Sung Im Cho, Im Kyung Yeo, So Yeon Kim, Seungman Park, Sung Sup Park, Kim, Hyun Woo

مصطلحات موضوعية: Adolescent, Adult, Anion Transport Proteins/genetics, Asian Continental Ancestry Group/ethnology, Asian Continental Ancestry Group/genetics, Cartilage Oligomeric Matrix Protein, Child, Preschool, Cohort Studies, Collagen Type IX/genetics, Extracellular Matrix Proteins/genetics, Female, Genetic Association Studies, Genetic Heterogeneity, Genetic Testing, Genome, Human, Glycoproteins/genetics, Humans, Limb Deformities, Congenital/diagnostic imaging, Congenital/genetics, Congenital/pathology, Male, Matrilin Proteins, Mutation, Missense, Osteochondrodysplasias/diagnostic imaging, Osteochondrodysplasias/ethnology, Osteochondrodysplasias/genetics

وصف الملف: 2669~2680

العلاقة: AMERICAN JOURNAL OF MEDICINE; J00093; OAK-2011-02257; https://ir.ymlib.yonsei.ac.kr/handle/22282913/94783Test; T201104709; AMERICAN JOURNAL OF MEDICINE, Vol.155A(11) : 2669-2680, 2011

الإتاحة: https://doi.org/10.1002/ajmg.a.34246Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/94783Test

المؤلفون: Holmberg Jörgensen, P, Bang Pedersen, C, Hougaard, K

المصدر: Ugeskrift for Laeger. 154(17):1189

المؤلفون: Thompson, E., Abdalla, E., Superti-Furga, A., McAlister, W., Kratz, L., Unger, S., Royer-Bertrand, B., Campos-Xavier, B., Mittaz-Crettol, L., Amin, A.K., DeSanto, C., Wilson, D.B., Douglas, G., Kozel, B., Shinawi, M.

المصدر: Bone, vol. 120, pp. 354-363

مصطلحات موضوعية: Adult, Base Sequence, Child, Preschool, Evolution, Molecular, Female, Genetic Variation, Humans, Infant, Newborn, Lymphocytes/metabolism, Male, Osteochondrodysplasias/diagnostic imaging, Osteochondrodysplasias/metabolism, Osteochondrodysplasias/pathology, Pedigree, Phenotype, Receptors, Cytoplasmic and Nuclear/genetics, Greenberg dysplasia, LBR, Lamin B receptor, Pelger-Huët anomaly, Rhizomelic shortening, Skeletal dysplasia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30448303; info:eu-repo/semantics/altIdentifier/eissn/1873-2763; https://serval.unil.ch/notice/serval:BIB_7E21E815D10ETest; urn:issn:1873-2763

الإتاحة: https://doi.org/10.1016/j.bone.2018.11.006Test
https://serval.unil.ch/notice/serval:BIB_7E21E815D10ETest