المصدر: Annals of neurology, 87 (2

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Adult, Amino Acid Transport System y+ -- metabolism -- physiology, Cell Cycle -- physiology, Cells, Cultured, Child, Child, Preschool, Female, Fibroblasts -- physiology, Humans, Infant, Male, Middle Aged, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Muscular Diseases -- genetics -- physiopathology, Mutation, Pedigree, Phenotype, Transcription Factors -- genetics, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/307754/3/ASC1myopathy-Villar-Quiles.pdfTest
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307754Test
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLLTest

المصدر: 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 .

مصطلحات الفهرس: Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Dystroglycans/metabolism, Female, Genetic Predisposition to Disease, Genetic Variation, Glycosylation, Heterozygote, Homozygote, Humans, Male, Middle Aged, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Phenotype, Whole Exome Sequencing/methods, Young Adult, article

المصدر: Winkel , B G , Hollegaard , M V , Olesen , M S , Svendsen , J H , Haunsø , S , Hougaard , D M & Tfelt-Hansen , J 2011 , ' Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis ' , BMC Medical Genetics , vol. 12 , pp. 22 .

مصطلحات الفهرس: Adult, Blood Preservation/methods, Blood Specimen Collection/methods, Genome, Genome, Human/genetics, Genomics/methods, Hot Temperature, Humans, Infant, Newborn, Kv1.5 Potassium Channel/genetics, Muscle Proteins/genetics, NAV1.5 Voltage-Gated Sodium Channel, Nucleic Acid Amplification Techniques, Phase Transition, Sodium Channels/genetics, Specimen Handling/methods, article

URL: https://curis.ku.dk/portal/da/publications/wholegenome-amplified-dna-from-stored-dried-blood-spots-is-reliable-in-high-resolution-melting-curve-and-sequencing-analysisTest(8bb7567d-bce0-415c-ae6d-b026e60b19ff).html
https://doi.org/10.1186/1471-2350-12-22Test

المصدر: European Journal of Anaesthesiology, Vol. 28, no. 10, p. 680-681 (2011)

مصطلحات الفهرس: Anesthesia, General - adverse effects, Anesthesiology - methods, Health Education - methods, Humans, Male, Muscle Proteins - genetics, Mutation, Myasthenic Syndromes, Congenital - diagnosis, genetics, Rare Diseases - therapy, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/109863Test

المصدر: Winkel , B G , Hollegaard , M V , Olesen , M S , Svendsen , J H , Haunsø , S , Hougaard , D M & Tfelt-Hansen , J 2011 , ' Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis ' , BMC Medical Genetics , vol. 12 , pp. 22 .

مصطلحات الفهرس: Adult, Blood Preservation/methods, Blood Specimen Collection/methods, Genome, Genome, Human/genetics, Genomics/methods, Hot Temperature, Humans, Infant, Newborn, Kv1.5 Potassium Channel/genetics, Muscle Proteins/genetics, NAV1.5 Voltage-Gated Sodium Channel, Nucleic Acid Amplification Techniques, Phase Transition, Sodium Channels/genetics, Specimen Handling/methods, article

URL: https://curis.ku.dk/portal/da/publications/wholegenome-amplified-dna-from-stored-dried-blood-spots-is-reliable-in-high-resolution-melting-curve-and-sequencing-analysisTest(8bb7567d-bce0-415c-ae6d-b026e60b19ff).html
https://doi.org/10.1186/1471-2350-12-22Test

المصدر: Winkel , B G , Hollegaard , M V , Olesen , M S , Svendsen , J H , Haunsø , S , Hougaard , D M & Tfelt-Hansen , J 2011 , ' Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis ' , BMC Medical Genetics , vol. 12 , pp. 22 .

مصطلحات الفهرس: Adult, Blood Preservation/methods, Blood Specimen Collection/methods, Genome, Genome, Human/genetics, Genomics/methods, Hot Temperature, Humans, Infant, Newborn, Kv1.5 Potassium Channel/genetics, Muscle Proteins/genetics, NAV1.5 Voltage-Gated Sodium Channel, Nucleic Acid Amplification Techniques, Phase Transition, Sodium Channels/genetics, Specimen Handling/methods, article

URL: https://curis.ku.dk/portal/da/publications/wholegenome-amplified-dna-from-stored-dried-blood-spots-is-reliable-in-high-resolution-melting-curve-and-sequencing-analysisTest(8bb7567d-bce0-415c-ae6d-b026e60b19ff).html
https://doi.org/10.1186/1471-2350-12-22Test

المصدر: The FASEB journal, 23 (12

مصطلحات الفهرس: Physiologie générale [biophysique], Animals, Apoptosis -- drug effects, Cell Proliferation -- drug effects, Cells, Cultured, Dichloroacetic Acid -- therapeutic use, Female, Fluoxetine -- pharmacology, Gene Expression Regulation -- physiology, Hypertension, Pulmonary -- drug therapy, Kv1.5 Potassium Channel -- genetics -- metabolism, Male, Mice, Microfilament Proteins -- genetics -- metabolism, Muscle Proteins -- genetics -- metabolism, Muscle, Smooth, Vascular -- cytology, Myocytes, Smooth Muscle -- drug effects -- metabolism, NFATC Transcription Factors -- genetics -- metabolism, Pulmonary Artery, Serotonin Plasma Membrane Transport Proteins -- genetics -- metabolism, Serotonin Uptake Inhibitors -- pharmacology, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/138608Test
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLLTest

المصدر: Developmental dynamics, 237 (11

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Animals, Carrier Proteins -- genetics, Carrier Proteins -- metabolism, Drosophila Proteins -- genetics, Drosophila Proteins -- immunology, Drosophila melanogaster, Gene Knockdown Techniques, Humans, Muscle Development -- physiology, Muscle Proteins -- genetics, Muscle Proteins -- metabolism, Nerve Tissue Proteins -- genetics, Nerve Tissue Proteins -- metabolism, Nervous System -- cytology, Nervous System -- embryology, Neurogenesis -- physiology, Sequence Homology, Amino Acid, Xenopus Proteins -- genetics, Xenopus Proteins -- metabolism, Xenopus laevis, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/52227/3/52227.pdfTest
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/52227Test
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLLTest

مصطلحات الفهرس: Acclimatization/*physiology, Adipose Tissue; Brown/metabolism, Animals, Calcium/*metabolism, Cold, Cyclic AMP-Dependent Protein Kinases/genetics/metabolism, Ion Channels/genetics/*metabolism, Mice, Mice; Knockout, Mitochondrial Proteins/genetics/*metabolism, Muscle Proteins/genetics/*metabolism, Muscle; Skeletal/*metabolism, Phosphorylation, Ryanodine Receptor Calcium Release Channel/genetics/metabolism, Shivering/physiology, Thermogenesis/*physiology, Article in journal, info:eu-repo/semantics/article, text

URL: http://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-15987Test
FASEB J, 1530-6860, 2008, 22:11, s. 3919-24

المصدر: Developmental dynamics, 237 (11

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Animals, Carrier Proteins -- genetics, Carrier Proteins -- metabolism, Drosophila Proteins -- genetics, Drosophila Proteins -- immunology, Drosophila melanogaster, Gene Knockdown Techniques, Humans, Muscle Development -- physiology, Muscle Proteins -- genetics, Muscle Proteins -- metabolism, Nerve Tissue Proteins -- genetics, Nerve Tissue Proteins -- metabolism, Nervous System -- cytology, Nervous System -- embryology, Neurogenesis -- physiology, Sequence Homology, Amino Acid, Xenopus Proteins -- genetics, Xenopus Proteins -- metabolism, Xenopus laevis, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/52227/3/52227.pdfTest
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/52227Test
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLLTest