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1
المؤلفون: Johan G. Eriksson, Katri Räikkönen, Jari Lahti, Sonja Strang-Karlsson, Anu-Katriina Pesonen, Kati Heinonen, Elina Wolford, Eero Kajantie, Anna-Liisa Järvenpää, Petteri Hovi, Sture Andersson, Marius Lahti, Riikka Pyhälä
المصدر: Journal of Developmental Origins of Health and Disease. 8:161-167
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, genetic structures, Population, Medicine (miscellaneous), Audiology, behavioral disciplines and activities, Visual processing, Young Adult, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, Humans, Infant, Very Low Birth Weight, Visual Pathways, 0501 psychology and cognitive sciences, Autistic Disorder, Young adult, education, Visual Cortex, education.field_of_study, business.industry, 05 social sciences, Infant, Newborn, Wechsler Adult Intelligence Scale, Cognition, medicine.disease, Low birth weight, Pattern Recognition, Visual, Autism, Female, medicine.symptom, business, Neurocognitive, 030217 neurology & neurosurgery, 050104 developmental & child psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee32dc22c703aaf3d368005e71578d05Test
https://doi.org/10.1017/s2040174416000738Test -
2
المؤلفون: Sonja Strang-Karlsson, Maria Williams, Olivera Casar-Borota, Carina Wallgren-Pettersson, L. Xu, Volker Straub, Daniel G. MacArthur, Ana Töpf, Monkol Lek, Katherine Johnson
المساهمون: Clinicum, University of Helsinki, Children's Hospital, Medicum, Department of Medical and Clinical Genetics, HUS Children and Adolescents, University of Helsinki, Clinicum, University of Helsinki, Medicum
المصدر: Neuromuscul Disord
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Nonsense mutation, Mutation, Missense, 030105 genetics & heredity, Compound heterozygosity, Article, 3124 Neurology and psychiatry, 03 medical and health sciences, symbols.namesake, POMK, Internal medicine, medicine, Missense mutation, Humans, Muscular dystrophy, Child, Dystroglycans, Muscle, Skeletal, Genetics (clinical), Sanger sequencing, Muscle Weakness, biology, business.industry, Siblings, 3112 Neurosciences, medicine.disease, 3. Good health, Endocrinology, Dystroglycanopathy, Neurology, Muscular Dystrophies, Limb-Girdle, MDDGCI2, Limb-girdle muscular dystrophy-dystroglycanopathy type 12 C, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), symbols, biology.protein, LGMD12C, Creatine kinase, Female, Neurology (clinical), business, Protein Kinases, Protein-O-mannosyl kinase, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4495943f50e808a55199696daafd3f59Test
http://hdl.handle.net/10138/305729Test -
3
المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents
المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscleمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test -
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المؤلفون: Riikka Pyhälä, Sonja Strang-Karlsson, Katri Räikkönen, Eero Kajantie, Anna-Liisa Järvenpää, Petteri Hovi, Jari Lahti, Kati Heinonen, Sture Andersson, Anu-Katriina Pesonen, Marius Lahti, Johan G. Eriksson, Sara Sammallahti
المصدر: Pediatrics. 134:1075-1083
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Cephalometry, Developmental Disabilities, Infant, Premature, Diseases, Young Adult, Corrected Age, Risk Factors, mental disorders, Humans, Infant, Very Low Birth Weight, Medicine, Interpersonal Relations, Longitudinal Studies, Postnatal growth, Young adult, Child, Finland, business.industry, Body Weight, Infant, Newborn, Infant, Targeted interventions, medicine.disease, Body Height, Social relation, Head circumference, Low birth weight, Child Development Disorders, Pervasive, Child, Preschool, Infant, Small for Gestational Age, Pediatrics, Perinatology and Child Health, Autism, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1e18ab7e25e38210c566333dae4c24Test
https://doi.org/10.1542/peds.2014-1097Test -
5
المؤلفون: Riikka Pyhälä, Eero Kajantie, Johan G. Eriksson, Jari Lahti, Kati Heinonen, Anu-Katriina Pesonen, Sture Andersson, Sonja Strang-Karlsson, Anna-Liisa Järvenpää, Katri Räikkönen, Petteri Hovi
المصدر: Pediatrics. 131:e243-e250
مصطلحات موضوعية: Adult, Male, Parents, Pediatrics, medicine.medical_specialty, Longitudinal study, Parent ratings, Executive Function, Young Adult, Surveys and Questionnaires, Epidemiology, Humans, Infant, Very Low Birth Weight, Medicine, Longitudinal Studies, Parent-Child Relations, Young adult, Appropriate for gestational age, business.industry, Infant, Newborn, Follow up studies, medicine.disease, Low birth weight, Pediatrics, Perinatology and Child Health, Small for gestational age, Female, Self Report, medicine.symptom, business, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39008fa55c0a509a4d40abdc7d1edcefTest
https://doi.org/10.1542/peds.2012-0839Test -
6
المؤلفون: Katri Räikkönen, Johan G. Eriksson, Sara Sammallahti, Jari Lahti, Anna-Liisa Järvenpää, Riikka Pyhälä, Anu-Katriina Pesonen, Kati Heinonen, Petteri Hovi, Eero Kajantie, Marius Lahti, Sture Andersson, Sonja Strang-Karlsson
المساهمون: Clinicum, Behavioural Sciences, University of Helsinki, Children's Hospital, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Lastentautien yksikkö, HUS Children and Adolescents, Developmental Psychology Research Group
المصدر: PLoS ONE
PLoS ONE, Vol 10, Iss 9, p e0137092 (2015)مصطلحات موضوعية: Male, DISORDER, Pediatrics, Developmental Disabilities, lcsh:Medicine, CHILDREN, 3124 Neurology and psychiatry, Cognition, 3123 Gynaecology and paediatrics, Infant, Very Low Birth Weight, Young adult, lcsh:Science, GESTATIONAL-AGE, Physiological Phenomena, Multidisciplinary, Depression, LINEAR GROWTH, Gestational age, BORN PRETERM, 3. Good health, Mental Health, NEUROCOGNITIVE ABILITIES, Premature birth, HEAD CIRCUMFERENCE, Premature Birth, Term Birth, Female, medicine.symptom, Infant, Premature, Research Article, Adult, medicine.medical_specialty, 515 Psychology, Birth weight, WEIGHT ADULTS, Young Adult, medicine, Humans, Pregnancy, BEHAVIORAL SYMPTOMS, business.industry, POSTNATAL-GROWTH, lcsh:R, Infant, Newborn, Infant, medicine.disease, Mental health, Low birth weight, Attention Deficit Disorder with Hyperactivity, lcsh:Q, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e72d64a0d7529575910a21b0239a696Test
http://hdl.handle.net/10138/160531Test -
7
المؤلفون: Katri Räikkönen, Anu-Katriina Pesonen, Riikka Pyhälä, Jari Lahti, Sture Andersson, Petteri Hovi, Kati Heinonen, Sonja Strang-Karlsson, Johan G. Eriksson, Eero Kajantie, Anna-Liisa Järvenpää
المصدر: Neurology. 77:2052-2060
مصطلحات موضوعية: Adult, Male, Aging, Pediatrics, medicine.medical_specialty, education, Neuropsychological Tests, Young Adult, 03 medical and health sciences, Cognition, 0302 clinical medicine, 030225 pediatrics, Humans, Infant, Very Low Birth Weight, Medicine, Young adult, reproductive and urinary physiology, business.industry, Infant, Newborn, Case-control study, Mean age, Head circumference, Low birth weight, Case-Control Studies, Cohort, Female, Neurology (clinical), medicine.symptom, business, Neurocognitive, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c1486bfaf9244325504730715f4cd3Test
https://doi.org/10.1212/wnl.0b013e31823b473eTest -
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المؤلفون: Karoliina Wehkalampi, Sonja Strang-Karlsson, Johan G. Eriksson, Eero Kajantie, Mirjami Siltanen, Anna-Liisa Järvenpää, Sture Andersson, Petteri Hovi
المصدر: Journal of Allergy and Clinical Immunology. 127:935-942
مصطلحات موضوعية: Adult, Hypersensitivity, Immediate, Male, Pediatrics, medicine.medical_specialty, Adolescent, Immunology, Gestational Age, Atopy, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Risk Factors, 030225 pediatrics, medicine, Humans, Infant, Very Low Birth Weight, Immunology and Allergy, Young adult, Skin Tests, Asthma, Full Term, business.industry, Incidence, Incidence (epidemiology), Infant, Newborn, Gestational age, Odds ratio, Immunoglobulin E, medicine.disease, Low birth weight, 030228 respiratory system, Premature Birth, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab4bfb4a9532c5da603892085eb6c48dTest
https://doi.org/10.1016/j.jaci.2010.12.1107Test -
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المؤلفون: Anna-Liisa Järvenpää, Katri Räikkönen, David Darby, Kati Heinonen, Maria Paile-Hyvärinen, Anu-Katriina Pesonen, Eero Kajantie, Petteri Hovi, Sture Andersson, Sonja Strang-Karlsson, Johan G. Eriksson
المصدر: Pediatrics. 125:e74-e82
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Term Birth, Birth weight, Neuropsychological Tests, Risk Assessment, Severity of Illness Index, Young Adult, Child Development, Reference Values, Severity of illness, Reaction Time, medicine, Humans, Infant, Very Low Birth Weight, Very Preterm Birth, Young adult, Finland, Probability, Retrospective Studies, Psychomotor learning, Learning Disabilities, business.industry, Age Factors, Infant, Newborn, Confidence interval, Low birth weight, Case-Control Studies, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, Cognition Disorders, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de9da00ca461ceb520cd533732dea48fTest
https://doi.org/10.1542/peds.2009-1297Test -
10
المؤلفون: Anna-Liisa Järvenpää, Katri Räikkönen, Johan G. Eriksson, Kati Heinonen, Eero Kajantie, Petteri Hovi, Anu-Katriina Pesonen, Sonja Strang-Karlsson, Sture Andersson
المصدر: Pediatrics. 122:e62-e72
مصطلحات موضوعية: Adult, Male, Adolescent, Birth weight, Life Change Events, 03 medical and health sciences, 0302 clinical medicine, 5. Gender equality, 030225 pediatrics, Humans, Infant, Very Low Birth Weight, Medicine, Interpersonal Relations, 030212 general & internal medicine, Young adult, Finland, Pregnancy, business.industry, Hazard ratio, Infant, Newborn, medicine.disease, Educational attainment, Sexual intercourse, Low birth weight, Logistic Models, Cohabitation, Pediatrics, Perinatology and Child Health, Adult Children, Female, medicine.symptom, business, Follow-Up Studies, Demography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7882174e70f202da6e9691d89188d1aeTest
https://doi.org/10.1542/peds.2007-3858Test