المؤلفون: Arimura K, Takenaga S, Nakagawa M, Osame M, Stalberg E

المصدر: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1996 Oct; Vol. 61 (4), pp. 425-6.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium: Print ISSN: 0022-3050 (Print) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Electromyography*, Osteochondrodysplasias/*diagnosis, Adult ; Female ; Humans ; Muscle, Skeletal/physiopathology ; Neural Conduction ; Osteochondrodysplasias/physiopathology

المؤلفون: Thompson PD

المصدر: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1993 Feb; Vol. 56 (2), pp. 121-4.

نوع المنشور: Editorial; Review

بيانات الدورية: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium: Print ISSN: 0022-3050 (Print) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Muscle Cramp/*physiopathology , Muscle Rigidity/*physiopathology , Spasm/*physiopathology , Stiff-Person Syndrome/*physiopathology, Humans ; Muscle Cramp/drug therapy ; Muscle Rigidity/drug therapy ; Muscles/innervation ; Osteochondrodysplasias/drug therapy ; Osteochondrodysplasias/physiopathology ; Peripheral Nerves/drug effects ; Peripheral Nerves/physiopathology ; Spasm/drug therapy ; Spinal Cord/drug effects ; Spinal Cord/physiopathology ; Stiff-Person Syndrome/drug therapy

المؤلفون: Christova LG, Alexandrov AS, Ishpekova BA

المصدر: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1999 Feb; Vol. 66 (2), pp. 252-3.

نوع المنشور: Case Reports; Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium: Print ISSN: 0022-3050 (Print) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Muscles/*physiopathology , Osteochondrodysplasias/*physiopathology, Child ; Electromyography ; Female ; Humans ; Syndrome

المؤلفون: Simpson RK Jr; Department of Neurosurgery, Baylor College of Medicine, Houston, Texas 77030., Fischer DK, Gall GK, Rose JE

المصدر: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1988 Oct; Vol. 51 (10), pp. 1349-52.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium: Print ISSN: 0022-3050 (Print) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Camurati-Engelmann Syndrome/*complications , Cerebellar Diseases/*pathology , Encephalocele/*pathology , Osteochondrodysplasias/*complications, Adult ; Bone and Bones/pathology ; Camurati-Engelmann Syndrome/pathology ; Cerebellum/pathology ; Humans ; Intracranial Pressure ; Magnetic Resonance Imaging ; Male ; Skull/pathology

المؤلفون: Parrini, Elena, Mei, Davide, Pisanti, Maria Antonietta, Catarzi, Serena, Pucatti, Daniela, Bianchini, Claudia, Mascalchi, Mario, Bertini, Enrico, Morrone, Amelia, Cavaliere, Maria Luigia, Guerrini, Renzo

المصدر: Journal of Medical Genetics; Jun2015, Vol. 52 Issue 6, p405-412, 8p

مصطلحات موضوعية: OSTEOCHONDRODYSPLASIAS, MESSENGER RNA, GENETIC mutation, WESTERN immunoblotting, REVERSE transcriptase polymerase chain reaction, GEL electrophoresis

المؤلفون: Balemans, W., Patel, N., Ebeling, M., Van Hul, E., Wuyts, W., Lacza, C., Dioszegi, M., Dikkers, F. G., Hildering, P., Willems, P. J., Verheij, J. B. G. M., Lindpaintner, K., Vickery, B., Foernzler, D., Van Hul, W.

المصدر: Journal of Medical Genetics; Feb2002, Vol. 39 Issue 2, p91-97, 8p, 1 Black and White Photograph, 2 Diagrams, 1 Chart

مصطلحات موضوعية: OSTEOCHONDRODYSPLASIAS, FACIAL nerve, GENETIC mutation, GENETIC transcription, HUMAN gene mapping

المؤلفون: Aiman Shawli, Hamdan Alrajhi, Fahad Hakami, Jubara Alallah, Khalid Alghamdi

المصدر: BMJ Case Rep

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Cutis marmorata, Microcephaly, Parenteral Nutrition, Dwarfism, Osteochondrodysplasias, Short stature, Feeding and Eating Disorders, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Rare Diseases, PCNT, Rare Disease, medicine, Humans, Antigens, Acanthosis nigricans, Fetal Growth Retardation, business.industry, Homozygote, Infant, General Medicine, medicine.disease, 030104 developmental biology, Dysplasia, medicine.symptom, Nervous System Diseases, Primordial dwarfism, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78276f27f3cd39ce9b8e15b5a6127249
https://europepmc.org/articles/PMC6557317/

المؤلفون: Shinjan Patra, Partha Pratim Chakraborty, Sugata Narayan Biswas, Himanshu Barman

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Pediatrics, congenital, hereditary, and neonatal diseases and abnormalities, Urinary system, Morquio A syndrome, 030105 genetics & heredity, Osteochondrodysplasias, Mucopolysaccharidosis Type IVA, Diagnosis, Differential, 03 medical and health sciences, Young Adult, Corneal Opacity, medicine, Humans, Surgery, Plastic, Pressure Ulcer, Epiphyseal dysplasia, business.industry, Normal intelligence, Mucopolysaccharidosis IV, General Medicine, medicine.disease, Anti-Bacterial Agents, Radiography, 030104 developmental biology, Dysplasia, Orthopedic surgery, sense organs, Learning from Errors, Differential diagnosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40092dd21336afe1e19823253bd5820d
https://europepmc.org/articles/PMC5665360/

المؤلفون: K Devaraja, Prem Sagar, Amit Singh Chirom

مصطلحات موضوعية: Male, medicine.medical_specialty, Tuberculosis, Disease, Conservative Treatment, Osteochondrodysplasias, Tracheobronchopathia-osteochondroplastica, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Rare Disease, Biopsy, medicine, Humans, Membranous part, Hoarseness, Tracheal Diseases, medicine.diagnostic_test, business.industry, General surgery, General Medicine, Middle Aged, medicine.disease, Surgery, 030228 respiratory system, Male patient, 030220 oncology & carcinogenesis, Differential diagnosis, business, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e285ecbe083ff17625b51a14a313c699
https://europepmc.org/articles/PMC5623203/

المؤلفون: Anneliese Simons, Natalie Meara, James Finnerty, Ian Benton

مصطلحات موضوعية: Aged, 80 and over, Male, medicine.medical_specialty, Tracheal Diseases, medicine.diagnostic_test, business.industry, Computed tomography, General Medicine, respiratory system, medicine.disease, Osteochondrodysplasias, digestive system diseases, Tracheobronchopathia-osteochondroplastica, Article, respiratory tract diseases, Diverticulosis, Prostate cancer, Rheumatoid arthritis, medicine, Humans, Radiology, Airway, Lung cancer, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd612f542fba1054e8c8c2006213aa2e
https://europepmc.org/articles/PMC4248111/