-
1دورية أكاديمية
المؤلفون: Riikka E. Mäkitie, Sanna Toiviainen-Salo, Ilkka Kaitila, Outi Mäkitie
المصدر: Frontiers in Endocrinology, Vol 13 (2022)
مصطلحات موضوعية: osteochondrodysplasia, empty sella, TBX2, vertebral abnormalities, osteoarthritis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
-
2
المصدر: Frontiers in endocrinology. 13
مصطلحات موضوعية: Bone Diseases, Developmental, Phenotype, Exome Sequencing, Humans, Abnormalities, Multiple, Osteochondrodysplasias
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a10cff426707368d5a92186bd04f4a70
https://pubmed.ncbi.nlm.nih.gov/35311234 -
3
المؤلفون: Alla Victoroff, Patricia I. Dickson, Paul Harmatz, Anton Mlikotic, Ilkka Kaitila, Merry Passage, Agnes Chen, Jacqueline Madden, Steven Q. Le, David E. Naylor
المساهمون: Medicum, Department of Medical and Clinical Genetics
المصدر: Data in Brief, Vol 5, Iss C, Pp 71-76 (2015)
Data in Briefمصطلحات موضوعية: Pathology, medicine.medical_specialty, education, lcsh:Computer applications to medicine. Medical informatics, Pulmonary function testing, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Cerebrospinal fluid, medicine, Adverse effect, lcsh:Science (General), Data Article, 0303 health sciences, Multidisciplinary, medicine.diagnostic_test, business.industry, 030302 biochemistry & molecular biology, Cervical spinal stenosis, Magnetic resonance imaging, Spinal cord, medicine.disease, 3. Good health, medicine.anatomical_structure, Somatosensory evoked potential, Anesthesia, lcsh:R858-859.7, 3111 Biomedicine, business, 030217 neurology & neurosurgery, lcsh:Q1-390
-
4
المؤلفون: Anton Mlikotic, Alla Victoroff, Paul Harmatz, Steven Q. Le, Jacqueline Madden, Merry Passage, Patricia I. Dickson, Ilkka Kaitila, David E. Naylor, Agnes Chen
المصدر: Molecular Genetics and Metabolism. 116:69-74
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Mucopolysaccharidosis I, Endocrinology, Diabetes and Metabolism, Cervix Uteri, Constriction, Pathologic, Biochemistry, Article, Iduronidase, Young Adult, Mucopolysaccharidosis type I, Myelopathy, Endocrinology, Lumbar, Spinal cord compression, Genetics, medicine, Humans, Spinal canal, Child, Spinal Meninges, Molecular Biology, business.industry, Enzyme replacement therapy, medicine.disease, Recombinant Proteins, 3. Good health, Surgery, medicine.anatomical_structure, Female, business, Spinal Canal
-
5
المؤلفون: Mathilde Huckert, Séraphin Nguefack, John F. Bateman, Renata Moldenhauer Minillo, Nara Sobreira, Vinciane Wouters, Corinne Stoetzel, Marie-Cécile Manière, Cedrik Tekendo-Ngongang, Virginie Laugel-Haushalter, Bee Chin Chen, Vincent Laugel, Kerry A. Miller, Rutger Meinsma, Kimberly F. Doheny, Cristina Has, Stefania Gimelli, Kurt N. Hetrick, Elisabeth Flori, Sophie Dahoun, Peter G. Farlie, David Valle, John B. Mulliken, Anne Dompmartin, Helen Mecili, Georgina Caruana, Martin Poot, Susan M. White, André B.P. van Kuilenburg, Laurence Myriam Boon, Decio Brunoni, Rowani Mohd Rawi, Agnès Bloch-Zupan, Ambroise Wonkam, Ilkka Kaitila, Raoul C.M. Hennekam, Druckerei Stückle, Judith Meijer, Megan F Welfare, Ana B. Alvarez Perez, Mustapha Amyere, Satz Mengensatzproduktion, Maria de Fátima de Faria Soares, John F. Bertram, Zornitza Stark, Odile Enjolras, Jean Muller, Ebtesam M. Abdalla, Miikka Vikkula, Tiong Yang Tan, Frédérique Sloan-Béna, Julie Jurgens, Catherine Godfraind, Pierre-Louis Docquier, Hua Ling, Ravi Savarirayan, Andrew A Heggie, Hélène Dollfus, Trent Burgess
المصدر: Molecular Syndromology. 5:I-IV
مصطلحات موضوعية: Genetics, Genetics (clinical)
-
6
المؤلفون: Pierre-Louis Docquier, Anne Dompmartin, Odile Enjolras, Mustapha Amyere, Laurence M. Boon, Vinciane Wouters, Miikka Vikkula, Catherine Godfraind, John B. Mulliken, Ilkka Kaitila
المصدر: Molecular Syndromology. 5:259-267
مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, Somatic cell, Biology, medicine.disease, medicine.disease_cause, IDH2, Maffucci syndrome, Genetics, medicine, Enchondromatosis, Enchondroma, Original Article, Chondrosarcoma, Ollier disease, Genetics (clinical)
-
7
المؤلفون: Liisamari Krüger, Hannu Kautiainen, Timo Pohjolainen, Heikki Hurri, Marja Arkela-Kautiainen, Ilkka Kaitila
المصدر: Journal of Rehabilitation Medicine. 45:308-313
مصطلحات موضوعية: Adult, Male, Gerontology, Activities of daily living, Adolescent, Population, Dwarfism, Physical Therapy, Sports Therapy and Rehabilitation, Young Adult, Cost of Illness, Quality of life, International Classification of Functioning, Disability and Health, Surveys and Questionnaires, Activities of Daily Living, medicine, Humans, education, Socioeconomic status, Finland, Aged, education.field_of_study, business.industry, Rehabilitation, General Medicine, Middle Aged, medicine.disease, Socioeconomic Factors, Dysplasia, Supportive psychotherapy, Quality of Life, Female, Diastrophic dysplasia, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f917bbbe4fdf6c6a43cb52a91d816dc
https://doi.org/10.2340/16501977-1116 -
8
المؤلفون: Heikki Kröger, Outi Mäkitie, William G. Cole, Renata C. Pereira, Tero Laine, Serap Turan, Murat Bastepe, Harald Jüppner, Ilkka Kaitila
المصدر: Journal of Bone and Mineral Research
مصطلحات موضوعية: Fibroblast growth factor 23, Male, medicine.medical_specialty, DMP1, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Genes, Recessive, osteomalacia, skeletal dysplasia, Bone remodeling, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Internal medicine, rickets, Medicine, Humans, Orthopedics and Sports Medicine, Bone pain, 030304 developmental biology, Aged, hypophosphatemia, 0303 health sciences, Osteomalacia, FGF-23, Extracellular Matrix Proteins, business.industry, Genetic Carrier Screening, Heterozygote advantage, medicine.disease, Phosphoproteins, Pedigree, Hypophosphatemic Rickets, Fibroblast Growth Factor-23, Endocrinology, Phenotype, Mutation, Original Article, Female, medicine.symptom, business, Hypophosphatemia
-
9
المؤلفون: Ilkka Kaitila, Christina Raitta
المصدر: Acta Ophthalmologica. 63:175-182
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Eye Diseases, Arteriosclerosis, Systolic hypertension, Visual Acuity, Genes, Recessive, 030204 cardiovascular system & hematology, Fundus (eye), Amblyopia, Constriction, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine.artery, Diseases in Twins, Humans, Medicine, Fluorescein Angiography, Child, Intraocular Pressure, Aorta, Esotropia, medicine.diagnostic_test, business.industry, Retinal Vessels, General Medicine, Anatomy, Retinal vascular tortuosity, medicine.disease, Fluorescein angiography, 3. Good health, Ophthalmology, Hyperopia, Cardiology, Female, business, Calcification
-
10
المؤلفون: Eero Pukkala, Mervi Taskinen, Outi Mäkitie, Annamari Ranki, Leila Jeskanen, Ilkka Kaitila
المصدر: American Journal of Medical Genetics Part A. :2370-2375
مصطلحات موضوعية: Adult, Male, Oncology, Mitochondrial RNA processing, medicine.medical_specialty, Skin Neoplasms, Adolescent, Population, Osteochondrodysplasias, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Internal medicine, Genetics, medicine, Cartilage–hair hypoplasia, Humans, Basal cell carcinoma, Registries, Child, education, Finland, Genetics (clinical), Aged, 030304 developmental biology, 0303 health sciences, education.field_of_study, business.industry, Incidence, Lymphoma, Non-Hodgkin, Infant, Cancer, Middle Aged, medicine.disease, Hypoplasia, 3. Good health, Lymphoma, Cancer registry, Cartilage, Carcinoma, Basal Cell, Child, Preschool, 030220 oncology & carcinogenesis, Immunology, Female, business, Follow-Up Studies, Hair