المؤلفون: Thibaud Lebret, Séverine Hatton, Jacques Callebert, Valérie Cormier-Daire, Céline Greco

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Nail-patella syndrome, Chronic pain, Cannabinoids, Pain management, Serotonin, Noradrenaline, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/4c97149c289e450a8eea7beaa09a1609

المؤلفون: Saroj Sitaula, Sabina Sitaula, Pragati Khadka, Roshna Adhikari

المصدر: Radiology Case Reports, Vol 19, Iss 10, Pp 4327-4330 (2024)

مصطلحات موضوعية: Nail patella syndrome, Radiology, Patellar hypoplasia, Iliac horns, Radial dislocation, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043324005478; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/1323889eb5454275b145bcdbf080d021

المؤلفون: Banno, Yoshinori, Ikemiyagi, Masako, Hamada, Riku, Nozu, Kandai, Matsuoka, Kentaro, Kamimaki, Isamu

المصدر: Pediatric Nephrology; Sep2024, Vol. 39 Issue 9, p2627-2631, 5p

مصطلحات موضوعية: FINGER abnormalities, FINGER physiology, PROTEINS, PROTEINURIA, BIOPSY, TRANSCRIPTION factors, THUMB, NAIL-patella syndrome, GENETIC mutation, KIDNEY diseases

المصدر: National Registry of Rare Kidney Diseases (RaDaR)

المؤلفون: Kazuya Matsumoto, Yoshinori Matsumoto, Shoichi Nawachi, Yosuke Asano, Yu Katayama, Yoshia Miyawaki, Takayuki Katsuyama, Eri Katsuyama, Yoshihisa Nasu, Ken-Ei Sada, Jun Wada

المصدر: BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-5 (2024)

مصطلحات موضوعية: Nail-patella syndrome, Rheumatoid arthritis, Joint dislocation, Iliac horn, Case report, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2474

URL الوصول: https://doaj.org/article/ea5db3ccacff472691f6b241be818b84

المؤلفون: CHEN Dan, SUN Liying, ZHONG Wenyao, TIAN Wen

المصدر: 罕见病研究, Vol 2, Iss 4, Pp 611-615 (2023)

مصطلحات موضوعية: nail-patella syndrome, lmx1b gene, arthrogryposis, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2097-0501

URL الوصول: https://doaj.org/article/d070f866eeef492ab875f3f8d3adc774

المؤلفون: Liu Yingwen, Zhang Yuxin, Yan Lulu, Han Chunxiao, Li Haibo

المصدر: Xin yixue, Vol 54, Iss 5, Pp 365-369 (2023)

مصطلحات موضوعية: nail-patella syndrome, lmx1b, whole-exon sequencing, Medicine

وصف الملف: electronic resource

Relation: https://www.xinyixue.cn/fileup/0253-9802/PDF/1686187841405-1881378887.pdf; https://doaj.org/toc/0253-9802

URL الوصول: https://doaj.org/article/cce9060cb6d84d61b30431da38837bc4

المؤلفون: Sloane, Peter, Hunter, Janel Darcy, Lin, Jen-Jar, Chen, Ashton

المصدر: Pediatric Nephrology; Jun2023, Vol. 38 Issue 6, p1985-1989, 5p, 1 Diagram

مصطلحات موضوعية: HYPOTHYROIDISM, GENETIC mutation, HLA-B27 antigen, KIDNEY transplantation, PANCREAS transplantation, TYPE 1 diabetes, TREATMENT effectiveness, NAIL-patella syndrome, CHILDREN

المؤلفون: Hoang, Nguyen, Harper, Haleigh, Syscos, Spyros, Rickstrew, Jace, Kaplan, David

المصدر: Dermatology Online Journal. 26(7)

مصطلحات موضوعية: nail-patella syndrome, hereditary osteo-onychodysplasia, Fong disease

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/23c0k6sk

المؤلفون: Nicola Pallozzi Lavorante, Michele Iester, Chiara Bonzano, Alessandro Bagnis, Carlo Enrico Traverso, Carlo Alberto Cutolo

المصدر: Case Reports in Ophthalmology, Vol 13, Iss 3, Pp 984-990 (2022)

مصطلحات موضوعية: nail-patella syndrome, glaucoma, lmx1b, filtering surgery, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/527234; https://doaj.org/toc/1663-2699

URL الوصول: https://doaj.org/article/0c7c8905452d4fc6ab9db7d1f901ba56

المؤلفون: Jones, Marilyn C, Topol, Sarah E, Rueda, Manuel, Oliveira, Glenn, Phillips, Tierney, Spencer, Emily G, Torkamani, Ali

المصدر: Genetics in Medicine. 19(10)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Congenital Structural Anomalies, Brain Disorders, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Congenital, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Aged, Female, Humans, Kidney, LIM-Homeodomain Proteins, Male, Mutation, Nail-Patella Syndrome, Patella, Pedigree, Phenotype, Repressor Proteins, Transcription Factors, Fong disease, HOOD syndrome, nail dysplasia, Nail-Patella syndrome, Turner-Kieser syndrome, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/51p2p5z4

المؤلفون: Hafsa Z. Zuberi, Ashika Angirekula, Muhammad R. Akram, Karanjit S. Kooner

المصدر: Case Reports in Ophthalmology, Vol 13, Iss 1, Pp 227-233 (2022)

مصطلحات موضوعية: nail-patella syndrome, glaucoma, ocular hypertension, optical coherence tomography angiography, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/523984; https://doaj.org/toc/1663-2699

URL الوصول: https://doaj.org/article/458c8d54d67f41d993a89fb7fce68448

المؤلفون: Teruya Ishibashi, MD, PhD, Tetsuya Tomita, MD, PhD, Masashi Tamaki, MD, PhD, Toshitaka Fujito, MD, PhD, Seiji Okada, MD, PhD

المصدر: Arthroplasty Today, Vol 20, Iss , Pp 101099- (2023)

مصطلحات موضوعية: Total knee arthroplasty, Patellar dislocation, Osteoarthritis, Nail patella syndrome, Genu valgum, Small patella, Orthopedic surgery, RD701-811

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352344123000043; https://doaj.org/toc/2352-3441

URL الوصول: https://doaj.org/article/0167d87dc74e48c0accf21214d344feb

المؤلفون: Mukai, Miho, Fujita, Harumi^1,2, Umegaki-Arao, Noriko, Sasaki, Takashi^1,3, Yasuda-Sekiguchi, Fumiyo, Isojima, Tsuyoshi, Kitanaka, Sachiko, Amagai, Masayuki^1,2, Kubo, Akiharu akiharu@keio.jp

المصدر: Journal of Dermatological Science. Apr2018, Vol. 90 Issue 1, p90-93. 4p.

مصطلحات موضوعية: *NAIL-patella syndrome, *GENETIC mutation, *GENETIC transcription, *LUCIFERASES, *BIOLOGICAL assay

المؤلفون: Rushabh M. Vakharia, MD, Zaimary A. Meneses, BS, MS, Andrew D. Ardeljan, BS, Martin W. Roche, MD

المصدر: Arthroplasty Today, Vol 8, Iss , Pp 171-175 (2021)

مصطلحات موضوعية: Nail patella syndrome, Robotic-assisted, Unicompartmental knee surgery, MAKO, Haptic, Orthopedic surgery, RD701-811

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352344121000364; https://doaj.org/toc/2352-3441

URL الوصول: https://doaj.org/article/8d331a5e05d94e0da3ca33fd1573c3e5

المؤلفون: Hillevi Lindelöf, Eva Horemuzova, Ulrika Voss, Ann Nordgren, Giedre Grigelioniene, Anna Hammarsjö

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: nail-patella syndrome, LMX1B, inversion, skeletal dysplasia, next generation sequencing, case report, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.862908/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/43928cf3b9e0460580675f513c3f22b8

المؤلفون: Handa, Atsuhiko, Nishimura, Gen, Zhan, Malia Xin, Bennett, D. Lee, El-Khoury, Georges Y.

المصدر: Japanese Journal of Radiology; Mar2022, Vol. 40 Issue 3, p245-261, 17p

مصطلحات موضوعية: CHEST diseases, MULTIPLE epiphyseal dysplasia, GENETIC mutation, OSTEOGENESIS imperfecta, DYSOSTOSIS, EXOSTOSIS, GENETIC disorders, MAGNETIC resonance imaging, PROFESSIONAL competence, INFORMATION resources, EPIPHYSIS, HYPOPHOSPHATEMIA, NAIL-patella syndrome, COMPUTED tomography, PROFESSIONAL licensure examinations, ACHONDROPLASIA, PHENOTYPES

المؤلفون: Louboutin, Lucie¹ lucie.louboutin@gmail.com, Wascher, Daniel¹ dwascher@unm.edu, Neyret, Philippe¹ philippe.neyret@chu-lyon.fr

المصدر: Knee Surgery, Sports Traumatology, Arthroscopy. Oct2017, Vol. 25 Issue 10, p3012-3016. 5p.

مصطلحات موضوعية: *PATELLA, *NAIL-patella syndrome, *KNEE, *PAIN, *GENETIC disorders

المؤلفون: Harita, Yutaka¹ haritay-ped@h.u-tokyo.ac.jp, Kitanaka, Sachiko¹, Isojima, Tsuyoshi¹, Ashida, Akira², Hattori, Motoshi³

المصدر: Pediatric Nephrology. Oct2017, Vol. 32 Issue 10, p1845-1850. 6p.

مصطلحات موضوعية: *NAIL-patella syndrome, *HISTOLOGY, *KIDNEY diseases, *GENETIC mutation, *GENOTYPES, *GENETICS, *PROGNOSIS

المؤلفون: Witzgall, Ralph¹ ralph.witzgall@vkl.uni-regensburg.de

المصدر: Pflügers Archiv: European Journal of Physiology. Aug2017, Vol. 469 Issue 7/8, p927-936. 10p.

مصطلحات موضوعية: *NAIL-patella syndrome, *PATHOGNOMY, *KIDNEY glomerulus, *GENETIC mutation, *CYTOSKELETON, *DIAGNOSIS