المؤلفون: Kerby C. Oberg, Judith G. Hall, Shino Magaki

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:474-478

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Contracture, Autopsy, 030105 genetics & heredity, 03 medical and health sciences, Multiple joint contractures, Genetics, medicine, Humans, Genetics (clinical), Arthrogryposis, Arthrogryposis multiplex congenita, business.industry, Phenotype, 030104 developmental biology, Multiple congenital contractures, Fetal movement, Etiology, Presentation (obstetrics), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9226f206dc0a2db7518f6859dd68c29
https://doi.org/10.1002/ajmg.c.31731

المؤلفون: Kiley Poppino, Steven Sparagana, Carol Wise, Brian Wahlig

مصطلحات موضوعية: Arthrogryposis, Amyoplasia, medicine.medical_specialty, Physical medicine and rehabilitation, business.industry, Multiple joint contractures, Intellectual disability, medicine, Genetic variants, medicine.symptom, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2e99cebddd716513385a6283812d7a1c
https://doi.org/10.22541/au.159863565.57013959

المؤلفون: Allen L Ho, Arjun V Pendharkar, Harminder Singh, Jyodi Mohole, Eric S Sussman

المصدر: Journal of Neurological Surgery Reports
Journal of Neurological Surgery Reports, Vol 79, Iss 01, Pp e19-e22 (2018)

مصطلحات موضوعية: musculoskeletal diseases, 030506 rehabilitation, Pediatrics, medicine.medical_specialty, lcsh:Surgery, Case Report, lcsh:RC346-429, cervical stenosis, 03 medical and health sciences, 0302 clinical medicine, cervical fusion, spinal deformity, Multiple joint contractures, Deformity, Medicine, lcsh:Neurology. Diseases of the nervous system, Arthrogryposis, congenital disorders, 030222 orthopedics, Arthrogryposis multiplex congenita, Adult female, business.industry, Cervical spinal stenosis, lcsh:RD1-811, medicine.disease, Stenosis, Surgery, Neurology (clinical), medicine.symptom, 0305 other medical science, business, Congenital disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e0871890d1b38fe3df699accd0c852
http://europepmc.org/articles/PMC5860911

المؤلفون: Muhammad Naeem, Gulab Sher

المصدر: Genetic testing and molecular biomarkers. 22(12)

مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, Genes, Recessive, Receptors, Nicotinic, Consanguinity, Multiple joint contractures, medicine, Humans, Abnormalities, Multiple, Pakistan, Genetics (clinical), business.industry, Escobar syndrome, General Medicine, medicine.disease, Dermatology, eye diseases, Pterygium, Pedigree, Phenotype, Codon, Nonsense, Skin Abnormalities, Female, sense organs, business, Malignant Hyperthermia, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ba32fa157a6eb24767d8cc473e84b3
https://pubmed.ncbi.nlm.nih.gov/30461311

المؤلفون: Solaf M. Elsayed, Rabah M. Shawky, Nagwa E. A. Gaboon

المصدر: Egyptian Journal of Medical Human Genetics. 13(1):107-113

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, business.industry, Autosomal recessive, Kyphoscoliosis, medicine.disease, eye diseases, Surgery, First birth, medicine.anatomical_structure, Multiple pterygium syndrome, Multiple joint contractures, Medicine, Spinal canal, Genetics(clinical), sense organs, Joint Contracture, business, human activities, Genetics (clinical), Consanguineous Marriage, Joint contractures, Craniofacial dysmorphism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::160e768fd5ac825337ef3f8c5079c414

المؤلفون: In One Kim, Ki Joong Kim, Ho Seok Kang, Jong Hee Chae, So-Young Yoo, Yong Seung Hwang, Mun Hyang Lee, Su Mi Shin, Jee Hun Lee, Ji Hye Kim, Chong Jai Kim, Jung Eun Cheon

المصدر: Skeletal Radiology. 39:589-593

مصطلحات موضوعية: Arthrogryposis, Male, medicine.medical_specialty, Pathology, medicine.diagnostic_test, Glomerulosclerosis, Focal Segmental, business.industry, Infant, Connective tissue, Magnetic resonance imaging, Computed tomography, Diagnosis, Differential, medicine.anatomical_structure, Orthopedic surgery, Multiple joint contractures, medicine, Humans, Radiology, Nuclear Medicine and imaging, medicine.symptom, Tomography, X-Ray Computed, business, Hyaline, Medical attention

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8264fb9f2f7f53ea8acfa7a0e116661d
https://doi.org/10.1007/s00256-009-0871-y

المؤلفون: Wilmar Saldarriaga, Carolina Isaza, Felipe Ruiz-Botero, Harry Pachajoa

المصدر: Revista Colombiana de Obstetricia y Ginecología, Vol 60, Iss 1 (2009)

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Arthrogryposis multiplex congenita, Obstetrics and Gynecology, Disease, Case presentation, lcsh:Gynecology and obstetrics, Surgery, Geography, Multiple joint contractures, medicine, Etiology, Joint Contracture, Identical twins, lcsh:RG1-991, Twin Pregnancy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bacc10b9d6471d26f2ff5ad1bca8f99f
https://doi.org/10.18597/rcog.357

المؤلفون: Masanori Adachi, Jiro Machida, Naoyuki Nakamura, Shigeharu Okuzumi

المصدر: Journal of Pediatric Orthopaedics B. 17:241-245

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Foot Deformities, Congenital, Antley–Bixler syndrome, Radiography, Gene mutation, Risk Assessment, Sampling Studies, Multiple joint contractures, medicine, Humans, Orthopedic Procedures, Orthopedics and Sports Medicine, Physical Therapy Modalities, business.industry, Synostosis, Phalanx, medicine.disease, Osteotomy, Surgery, Treatment Outcome, Child, Preschool, Middle phalanx, Pediatrics, Perinatology and Child Health, Quality of Life, Female, business, Antley-Bixler Syndrome Phenotype, Foot (unit), Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326960bc7fc508ea17a7d0639c3375cd
https://doi.org/10.1097/bpb.0b013e32830cc35c

المؤلفون: Simone Dota Simis, Patricia Maria de Moraes Barros Fucs

المصدر: Revista Brasileira de Ortopedia. 43:151-156

مصطلحات موضوعية: Arthrogryposis, Amyoplasia, medicine.medical_specialty, Plantigrade, business.industry, Equinovarus deformity, Soft tissue, General Medicine, medicine.disease, Physical medicine and rehabilitation, Multiple joint contractures, medicine, Congenital contracture, medicine.symptom, business, Foot (unit)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d2cd8ce6b6f2a2d19c122ff97e06d5b9
https://doi.org/10.1590/s0102-36162008000400001

المؤلفون: Kazuhiro Ogata, Marko Šimunović, Sunčana Janković, Vida Čulić, Naomichi Matsumoto, Tomislav Đapić, Noriko Miyake, Davor Petrović, Masaaki Shiina

المصدر: Human Genome Variation

مصطلحات موضوعية: 0301 basic medicine, Genetics, Hip dysplasia, Pathology, medicine.medical_specialty, Genetic heterogeneity, 030105 genetics & heredity, Biology, medicine.disease, Biochemistry, Distal arthrogryposis, 03 medical and health sciences, 030104 developmental biology, Mutation (genetic algorithm), Multiple joint contractures, medicine, Data Report, Molecular Biology, Exome sequencing, Torticollis, children

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f6481cfac326c135e4b26546b9c53b9
https://www.bib.irb.hr/1050630

المؤلفون: Jaroslaw Feluś, Bartłomiej Kowalczyk

المصدر: Archives of Medical Science : AMS

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.medical_treatment, etiology, surgical treatment, arthrogryposis, rehabilitation, 03 medical and health sciences, Multiple joint contractures, medicine, Intensive care medicine, Arthrogryposis, Rehabilitation, business.industry, Treatment options, General Medicine, Arthrogryposes, Review article, 030104 developmental biology, orthotics, Physical therapy, Etiology, Treatment strategy, medicine.symptom, business, State of the Art Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4432dbde5fa3c07b6bee62d699208b0a
https://ruj.uj.edu.pl/xmlui/handle/item/244707

المؤلفون: Joanna Lazier, Carlos Fajardo, Jean K. Mah, Ana Nikolic, Mary Ann Thomas, Renee Perrier, Xing-Chang Wei, Veronica Mugarab Samedi, Mary Brindle

المصدر: Neuromuscular disorders : NMD. 26(1)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, 03 medical and health sciences, 0302 clinical medicine, Lumbar, Muscular Diseases, Multiple joint contractures, medicine, Humans, Myopathy, Central Core, Myopathy, Genetics (clinical), Arthrogryposis, RYR1, Ryanodine receptor, business.industry, Malignant hyperthermia, Lumbosacral Region, Infant, medicine.disease, Magnetic Resonance Imaging, Surgery, Hernia, Abdominal, 030104 developmental biology, Neurology, Spinal Cord, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Central core disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb1e9b3dfafae5b232099254071ac491
https://pubmed.ncbi.nlm.nih.gov/26684984

المؤلفون: Hamza Sucuoglu, Cagkan Caglar, Nurettin Irem Ornek

المصدر: Case Reports in Medicine, Vol 2015 (2015)
Case Reports in Medicine

مصطلحات موضوعية: musculoskeletal diseases, Pediatrics, medicine.medical_specialty, Arthrogryposis multiplex congenita, Absent fetal movements, Rehabilitation, business.industry, medicine.medical_treatment, lcsh:R, lcsh:Medicine, Case Report, General Medicine, Disease, Multiple joint contractures, medicine, Etiology, Functional independence, business, Arthrogryposis multiplex

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84c2df6c132b9a9804ffc2ceb293fdc8
https://doaj.org/article/5a6eca4415a04261a4b79148fa54e7ba

المؤلفون: María Fernández I, Miguel Sánchez S, María José Aranda G, Jose Ignacio Ruiz J, Juana María Sánchez M, Juan Antonio Ortega G, Alicia Canovas C, Abraham Trujillo A

المصدر: Revista chilena de pediatría v.84 n.5 2013
SciELO Chile
CONICYT Chile
instacron:CONICYT

مصطلحات موضوعية: Gynecology, Arthrogryposis, medicine.medical_specialty, Arthrogryposis multiplex congenita, Gastroschisis, business.industry, Abdominal wall defect, Artrogriposis Múltiple Congénita, medicine.disease, Gastrosquisis, Abdominal wall, medicine.anatomical_structure, Recien nacido, Pediatrics, Perinatology and Child Health, Multiple joint contractures, medicine, medicine.symptom, business, Paresis

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e927552d9a9647fa7a93ad05709c2d7
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062013000500010

المؤلفون: Patrícia Valéria Milanezi Alves, Linping Zhao, Ana Maria Bolognese, Pravin K. Patel

المصدر: The Journal of craniofacial surgery. 18(4)

مصطلحات موضوعية: musculoskeletal diseases, Adolescent, Shoulders, medicine.medical_treatment, Orthognathic surgery, Mandible, Patient Care Planning, Multiple joint contractures, Medicine, Humans, Orthodontics, Arthrogryposis, Patient Care Team, Amyoplasia, business.industry, General Medicine, medicine.disease, Otorhinolaryngology, Facial Asymmetry, Child, Preschool, Surgery, Female, medicine.symptom, business, Range of motion, Malocclusion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd6663786e06b5b73173a3097ac325cd
https://pubmed.ncbi.nlm.nih.gov/17667674

المؤلفون: Maja E. Hurley, Jerry Kelleher, Martin J. White, Andrew Green

المصدر: Pediatric radiology. 34(2)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Antley–Bixler syndrome, Radiohumeral synostosis, Ulna, Bone and Bones, Craniosynostosis, Craniosynostoses, Multiple joint contractures, medicine, Humans, Radiology, Nuclear Medicine and imaging, Abnormalities, Multiple, business.industry, Infant, Newborn, Syndrome, medicine.disease, Surgery, Radiography, Radius, Synostosis, Pediatrics, Perinatology and Child Health, Radioulnar synostosis, Presentation (obstetrics), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e5fb32b15cc0caa95b6bdcff7e5ed33
https://pubmed.ncbi.nlm.nih.gov/14513299

المؤلفون: Haluk Topaloglu

المصدر: Neurology. 72:1798-1799

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Fatty replacement, α dystroglycan, First year of life, Hypotonia, Abnormal glycosylation, Multiple joint contractures, medicine, Neurology (clinical), Joint Contracture, medicine.symptom, business, Early onset

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4c54b23630e2716024f28ed4d1f74395
https://doi.org/10.1212/wnl.0b013e3181a4e451

المؤلفون: KY Vilhekar, Amar Taksande

المصدر: Indian Journal of Human Genetics

مصطلحات موضوعية: Arthrogryposis, musculoskeletal diseases, business.industry, joint contracture, Case Report, Anatomy, medicine.disease, Blepharophimosis, Marden-Walker syndrome, Arachnodactyly, Inguinal hernia, Marden–Walker syndrome, inguinal hernia, Multiple joint contractures, Genetics, medicine, atrial septal defect, Joint Contracture, medicine.symptom, business, Kyphoscoliosis, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be93ac8efbb6b65fc03ef37949f363b5
https://doi.org/10.4103/0971-6866.100798

المؤلفون: Amanda B. Trucksess, Alan P. Alfano

المصدر: Archives of Physical Medicine and Rehabilitation. 87:e28

مصطلحات موضوعية: Nephrogenic Fibrosing Dermopathy, medicine.medical_specialty, Rehabilitation, business.industry, medicine.medical_treatment, Physical Therapy, Sports Therapy and Rehabilitation, Occult, Surgery, Multiple joint contractures, medicine, Contracture, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aff9f05875ede04b0652a4023f16f09d
https://doi.org/10.1016/j.apmr.2006.08.164

المؤلفون: Hyeon Soo Lee

المصدر: Yonsei Medical Journal

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Case Report, Arthrogryposis multiplex congenita, Premature baby, hemic and lymphatic diseases, Multiple joint contractures, Humans, Medicine, Rare syndrome, skin and connective tissue diseases, Muscle contracture, Arthrogryposis, Amyoplasia, amyoplasia congenita, business.industry, Infant, Newborn, General Medicine, medicine.disease, Surgery, Lower Extremity, External rotation, Female, medicine.symptom, business, Infant, Premature

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66b4d95fb364e5e4ba12aa9b54a57b7f
https://doi.org/10.3349/ymj.2005.46.4.567