المؤلفون: Vilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Sinikka Hiekkala

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Congenital myopathies, Cross-sectional survey, International classification of functioning (ICF), Self-reported functioning, Nemaline myopathy, Patient-Reported Outcomes Measurement Information System (PROMIS®), Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/0f7eaff581a349dd88fde8708bb1f67cTest

المؤلفون: Sonja Strang‐Karlsson, Sylvia Keigwin, Anna‐Kaisa Anttonen, Duncan Baker, Kerry Bean, Eveliina Jakkula

المصدر: Clinical Case Reports, Vol 10, Iss 10, Pp n/a-n/a (2022)

مصطلحات موضوعية: collagen type V, Ehlers–Danlos syndrome, germline mosaicism, gonosomal mosaicism, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/48f9b9be2ce34085a51286125321affaTest

المؤلفون: Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub

المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Whole-exome sequencing, Dystroglycanopathies, Limb-girdle muscle weakness, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13395-018-0170-1Test; https://doaj.org/toc/2044-5040Test

الوصول الحر: https://doaj.org/article/7b793b20033f4da8837130c6461f81e4Test

المؤلفون: Sara Sammallahti, Marius Lahti, Riikka Pyhälä, Jari Lahti, Anu-Katriina Pesonen, Kati Heinonen, Petteri Hovi, Johan G Eriksson, Sonja Strang-Karlsson, Anna-Liisa Järvenpää, Sture Andersson, Eero Kajantie, Katri Räikkönen

المصدر: PLoS ONE, Vol 10, Iss 9, p e0137092 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4556664?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/b86cd4ed42f14d3fb76a8772c71b0e3aTest

المؤلفون: Nina Kaseva, Karoliina Wehkalampi, Sonja Strang-Karlsson, Minna Salonen, Anu-Katriina Pesonen, Katri Räikkönen, Tuija Tammelin, Petteri Hovi, Jari Lahti, Kati Heinonen, Anna-Liisa Järvenpää, Sture Andersson, Johan G Eriksson, Eero Kajantie

المصدر: PLoS ONE, Vol 7, Iss 2, p e32430 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22384247/?tool=EBITest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/4f6232463c834630aac8b88464ab6d72Test

المؤلفون: Marika Sipola-Leppänen, Petteri Hovi, Sture Andersson, Karoliina Wehkalampi, Marja Vääräsmäki, Sonja Strang-Karlsson, Anna-Liisa Järvenpää, Outi Mäkitie, Johan G Eriksson, Eero Kajantie

المصدر: PLoS ONE, Vol 6, Iss 3, p e17700 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3064571?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/c873dc921136443889e32b6fb7a18a5dTest

المؤلفون: Petteri Hovi, Sture Andersson, Anna-Liisa Järvenpää, Johan G Eriksson, Sonja Strang-Karlsson, Eero Kajantie, Outi Mäkitie

المصدر: PLoS Medicine, Vol 6, Iss 8, p e1000135 (2009)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2722726?pdf=renderTest; https://doaj.org/toc/1549-1277Test; https://doaj.org/toc/1549-1676Test

الوصول الحر: https://doaj.org/article/bb66e330b4274625af06d9a4661d8949Test

المؤلفون: Pieta Näsänen-Gilmore, Peija Haaramo, Suvi Alenius, Sonja Strang-Karlsson, Markku Nurhonen, Marja Vääräsmäki, Mika Gissler, Kari Anne I. Evensen, Eero Kajantie, Petteri Hovi

المساهمون: HUSLAB, HUS Children and Adolescents, Clinicum, Children's Hospital, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki University Hospital Area, Lastentautien yksikkö

المصدر: Cephalalgia. 41:677-689

مصطلحات موضوعية: Pediatrics, 3124 Neurology and psychiatry, adult outcomes, 0302 clinical medicine, cohort studies, TENSION-TYPE HEADACHE, 3123 Gynaecology and paediatrics, Neonatal, YOUNG-ADULTS, Epidemiology, 030212 general & internal medicine, Young adult, Child, gestational age, Pregnancy Outcome, Gestational age, General Medicine, PREVALENCE, 3. Good health, PREGNANCY, Premature Birth, Female, epidemiology, SMOKING, CHRONIC PAIN, Cohort study, Adult, medicine.medical_specialty, Migraine Disorders, Birth weight, HEART-DISEASE, neonatal, 03 medical and health sciences, medicine, Humans, METAANALYSIS, Pregnancy, business.industry, prematurity, Infant, Newborn, 3112 Neurosciences, medicine.disease, BIRTH-WEIGHT, Migraine, Register (music), RISK-FACTORS, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e633d4fb98220571bd313b71b29408f6Test
https://doi.org/10.1177/0333102420978357Test

المؤلفون: Carina Wallgren-Pettersson, Maria von Willebrand, Sonja Strang-Karlsson, Kristiina Avela

المساهمون: HUSLAB, Clinicum, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki University Hospital Area, Department of Pathology, Medicum

مصطلحات موضوعية: TTD4, medicine.medical_specialty, Trichothiodystrophy, trichorrhexis, TTDN1, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, 030225 pediatrics, Genetics, medicine, Photosensitive Trichothiodystrophy, In patient, Genetics (clinical), tiger tail, 030304 developmental biology, Sanger sequencing, trichoschisis, 0303 health sciences, Dysplastic hair, business.industry, Trichoschisis, 1184 Genetics, developmental biology, physiology, medicine.disease, Dermatology, 3. Good health, symbols, C7orf11, 3111 Biomedicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b06707b038b9f1c755946819699b58dTest
http://hdl.handle.net/10138/340056Test

المؤلفون: Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso-Pérez, Jonathan Baets, Nina Barisic, Alexandra Bastian, Sabine Borell, Teodora Chamova, Kristl Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem de Ridder, Jordi Díaz-Manera, Cristina Domínguez-González, Alexis Duncan, Hacer Durmus, Nagia A. Fahmy, Maria Elena Farrugia, Roberto Fernández-Torrón, Lidia Gonzalez-Quereda, Jana Haberlova, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, Ivonne Jerico Pascual, Solange Kapetanovic, Viktorija Kenina, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera-Pruszczyk, Richa Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munain, Wolfgang Loscher, Anna Lusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, Andrés Nascimento, Shahriar Nafissi, Shirin Omidi, Carlos Ortez, Stéphanie Paquay, Yann Pereon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, Iciar Sanchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang-Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan Vílchez, Katharina Vill, John Vissing, Carina Wallgren-Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub

المساهمون: MYO-SEQ Consortium, HUSLAB, HUS Children and Adolescents, Clinicum, Medicum, Claeys, Kristl

المصدر: Genetics in medicine
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: 0301 basic medicine, targeted exome analysis, Neuromuscular disease, Medizin, Anoctamins, 030105 genetics & heredity, Bioinformatics, 3124 Neurology and psychiatry, DNA sequencing, Article, 03 medical and health sciences, genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, 3123 Gynaecology and paediatrics, Exome Sequencing, Medicine, Humans, Exome, Gene, Genetics (clinical), Exome sequencing, SGCA, RYR1, Genetic heterogeneity, business.industry, Sciences bio-médicales et agricoles, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Glucosyltransferases, Human medicine, business

وصف الملف: 1 full-text file(s): application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb0b77bdff412d8ddab3c132a95c157Test
https://repository.uantwerpen.be/docstore/d:irua:4405Test