المؤلفون: Karaer, D., Durak, T., Karaer, K.

مصطلحات موضوعية: CCBE1 protein, human, calcium binding protein, tumor suppressor protein, case report, craniofacial malformation, intestine lymphangiectasia, lymphedema, mutation, Calcium-Binding Proteins, Craniofacial Abnormalities, Hennekam lymphangiectasia lymphedema syndrome, Humans, Lymphangiectasis, Intestinal, Tumor Suppressor Proteins

العلاقة: Clinical Dysmorphology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/56860Test; https://doi.org/10.1097/MCD.0000000000000488Test; 33; 87; 89; 2-s2.0-85186840507

الإتاحة: https://doi.org/10.1097/MCD.0000000000000488Test
https://hdl.handle.net/11499/56860Test

المؤلفون: Shinwari, K., Guojun, L., Deryabina, S. S., Bolkov, M. A., Tuzankina, I. A., Chereshnev, V. A.

المصدر: Sci. World J.
Scientific World Journal

مصطلحات موضوعية: MUTATION, MISSENSE, GENETIC ALGORITHM, ANIMAL MODEL, UNCLASSIFIED DRUG, ANIMAL EXPERIMENT, COLLAGEN BINDING PROTEIN, GENETIC ASSOCIATION, SERINE, BIOINFORMATICS, HENNEKAM SYNDROME, HUMANS, GLYCINE, AMINO ACID SEQUENCE, TRYPTOPHAN, FEMALE, CYSTEINE, CCBE1 PROTEIN, HUMAN, GLUTAMIC ACID, SEQUENCE HOMOLOGY, PROTEIN STABILITY, CALCIUM BINDING PROTEIN, GENE FREQUENCY, COMPUTATIONAL BIOLOGY, PROTEIN PHOSPHORYLATION, SINGLE NUCLEOTIDE POLYMORPHISM, LYMPHEDEMA, GENETICS, STRUCTURAL HOMOLOGY, SYNDROME, CRANIOFACIAL ABNORMALITIES, CALCIUM-BINDING PROTEINS, TUMOR SUPPRESSOR PROTEIN, BIOLOGY, EXTRACELLULAR MATRIX, CRANIOFACIAL MALFORMATION, MOLECULAR DIAGNOSIS, CONFORMATIONAL TRANSITION, POLYMORPHISM, SINGLE NUCLEOTIDE, PROTEIN SECONDARY STRUCTURE, ADULT, MISSENSE MUTATION, FORECASTING, COLLAGEN AND CALCIUM BINDING DOMAIN 1, NONHUMAN, ARTICLE, PROTEIN GLYCOSYLATION, ARGININE, MALE, INTESTINE LYMPHANGIECTASIA, AMINO ACID SUBSTITUTION, CONTROLLED STUDY, LIGAND BINDING, CELL MIGRATION, GENE INTERACTION, LYMPHANGIECTASIS, INTESTINAL, BINDING SITE, COMPUTER MODEL, STOP CODON

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______917::2971cf962b73da204e5cfb839f1597ccTest
https://hdl.handle.net/10995/111176Test

المؤلفون: Botou A., Bangeas A., Alexiou I., Sakkas L.I.

المصدر: Clinical Rheumatology ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-84994536184&doi=10.1007%2fs10067-016-3459-7&partnerID=40&md5=9424ab0c2856a5039e37596a0ee0c26bTest

مصطلحات موضوعية: noggin, acroosteolysis, Article, autosomal dominant disorder, diabetes mellitus, differential diagnosis, Gaucher disease, gene mutation, Hajdu Cheney syndrome, human, hyperparathyroidism, infection, intestine lymphangiectasia, laminopathy, leprosy, neuropathy, occupational disease, osteoarthropathy, priority journal, progeroid syndrome, psoriatic arthritis, pycnodysostosis, systemic sclerosis, diagnostic imaging, finger, finger phalanx, genetics, hand, ischemia, lysosome storage disease

العلاقة: http://hdl.handle.net/11615/71867Test

الإتاحة: https://doi.org/10.1007/s10067-016-3459-7Test
http://hdl.handle.net/11615/71867Test

المؤلفون: Christu, K. A., Pastaka, C., Papadopoulos, D., Klimi, E., Gourgoulianis, K. I.

المصدر: http://www.scopus.com/inward/record.url?eid=2-s2.0-0036981668&partnerID=40&md5=6898472f2bef8f128235c43a734d623fTest.

مصطلحات موضوعية: aged, article, case report, human, intestine lymphangiectasia, lymphatic system disease, lymphedema, male, nail disease, pleura effusion, pneumothorax, syndrome, Humans, Lymphangiectasis, Intestinal, Lymphatic Diseases, Nail Diseases, Pleural Effusion

العلاقة: http://hdl.handle.net/11615/26718Test

الإتاحة: http://hdl.handle.net/11615/26718Test

المصدر: Sci. World J.; Scientific World Journal

مصطلحات الفهرس: ARGININE, CALCIUM BINDING PROTEIN, COLLAGEN AND CALCIUM BINDING DOMAIN 1, COLLAGEN BINDING PROTEIN, CYSTEINE, GLUTAMIC ACID, GLYCINE, SERINE, TRYPTOPHAN, UNCLASSIFIED DRUG, CCBE1 PROTEIN, HUMAN, TUMOR SUPPRESSOR PROTEIN, ADULT, AMINO ACID SEQUENCE, AMINO ACID SUBSTITUTION, ANIMAL EXPERIMENT, ANIMAL MODEL, ARTICLE, BINDING SITE, BIOINFORMATICS, CELL MIGRATION, COMPUTER MODEL, CONFORMATIONAL TRANSITION, CONTROLLED STUDY, EXTRACELLULAR MATRIX, FEMALE, GENE FREQUENCY, GENE INTERACTION, GENETIC ALGORITHM, GENETIC ASSOCIATION, HENNEKAM SYNDROME, LIGAND BINDING, MALE, MISSENSE MUTATION, MOLECULAR DIAGNOSIS, NONHUMAN, PROTEIN GLYCOSYLATION, PROTEIN PHOSPHORYLATION, PROTEIN SECONDARY STRUCTURE, PROTEIN STABILITY, SEQUENCE HOMOLOGY, SINGLE NUCLEOTIDE POLYMORPHISM, STOP CODON, STRUCTURAL HOMOLOGY, SYNDROME, BIOLOGY, CRANIOFACIAL MALFORMATION, GENETICS, INTESTINE LYMPHANGIECTASIA, CALCIUM-BINDING PROTEINS, COMPUTATIONAL BIOLOGY, CRANIOFACIAL ABNORMALITIES, FORECASTING, HUMANS, LYMPHANGIECTASIS, INTESTINAL, LYMPHEDEMA, MUTATION, MISSENSE, POLYMORPHISM, SINGLE NUCLEOTIDE, Article, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: http://hdl.handle.net/10995/111176Test