المؤلفون: Anna Malekkou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Carolina Sismani, Edwin H. Jacobs, George J.G. Ruijter, Violetta Anastasiadou, Sofia Ourani, Emilia Athanasiou, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou

المصدر: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100997- (2023)

مصطلحات موضوعية: Glycogen storage disorder, Pompe disease, Exome sequencing, Case report, Variants, Acid alpha glucosidase, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000435; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/1393d2d27d9e4b658ab162df0508fc9f

المؤلفون: Harmke A. van Kooten, Imke A. M. Ditters, Marianne Hoogeveen-Westerveld, Edwin H. Jacobs, Johanna M. P. van den Hout, Pieter A. van Doorn, W. W. M. Pim Pijnappel, Ans T. van der Ploeg, Nadine A. M. E. van der Beek

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Antibodies, Enzyme replacement therapy, Pompe disease, Recombinant human alpha-glucosidase, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/cdbdc84961404c50b4089ea2e7a833db

المؤلفون: Merel Stok, Helen de Boer, Marshall W. Huston, Edwin H. Jacobs, Onno Roovers, Trudi P. Visser, Holger Jahr, Dirk J. Duncker, Elza D. van Deel, Arnold J.J. Reuser, Niek P. van Til, Gerard Wagemaker

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1014-1025 (2020)

مصطلحات موضوعية: murine Pompe disease, acid α-glucosidase, lentiviral vector, hematopoietic stem cell transplantation, skeletal muscle, central nervous system, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050120300838; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/81835f573420466a90338ee21c4f9707

المؤلفون: Rana Yadak, Raquel Cabrera-Pérez, Javier Torres-Torronteras, Marianna Bugiani, Joost C. Haeck, Marshall W. Huston, Elly Bogaerts, Steffi Goffart, Edwin H. Jacobs, Merel Stok, Lorena Leonardelli, Luca Biasco, Robert M. Verdijk, Monique R. Bernsen, George Ruijter, Ramon Martí, Gerard Wagemaker, Niek P. van Til, Irenaeus F.M. de Coo

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 8, Iss C, Pp 152-165 (2018)

مصطلحات موضوعية: MNGIE, thymidine phosphorylase, hematopoietic stem cells, lentiviral vectors, gene therapy, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050118300019; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/91c5b87792244f7bb100bcf6eb06a62a

المؤلفون: Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Edwin H. Jacobs, Esmee Oussoren, Ans T. van der Ploeg, Margreet A. E. M. Wagenmakers, Robert M. W. Hofstra, Henk J. Blom, Marcel J. T. Reinders, George J. G. Ruijter

المصدر: Metabolites, Vol 11, Iss 1, p 8 (2020)

مصطلحات موضوعية: untargeted metabolomics, inborn errors of metabolism, normalization, internal standards, batch effects, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-1989/11/1/8; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/547c2b9da39144a7b76688fd06dbf092

المؤلفون: Harmke A. van Kooten (12037441), Imke A. M. Ditters (12037444), Marianne Hoogeveen-Westerveld (549062), Edwin H. Jacobs (12037447), Johanna M. P. van den Hout (12037450), Pieter A. van Doorn (8137023), W. W. M. Pim Pijnappel (12037453), Ans T. van der Ploeg (12037456), Nadine A. M. E. van der Beek (12037459)

مصطلحات موضوعية: Biochemistry, Medicine, Pharmacology, Biotechnology, Immunology, Cancer, Hematology, Infectious Diseases, Computational Biology, Antibodies, Enzyme replacement therapy, Pompe disease, Recombinant human alpha-glucosidase

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Antibodies_against_recombinant_human_alpha-glucosidase_do_not_seem_to_affect_clinical_outcome_in_childhood_onset_Pompe_disease/19112737

الاتاحة: https://doi.org/10.6084/m9.figshare.19112737.v1

المؤلفون: Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat

المساهمون: Clinical Genetics, Neurology, Internal Medicine

المصدر: AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368 . https://doi.org/10.1007/s00401-023-02579-9
Acta Neuropathologica. Springer-Verlag

مصطلحات موضوعية: Cellular and Molecular Neuroscience, AMFR, Zebrafish disease modeling, Neurology, Whole genome sequencing, Precision medicine, Genetics, Hereditary spastic paraplegia, Cholesterol metabolism, Statin, Neurology (clinical), Pathology and Forensic Medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fc78cc6dfddfc3f598c41b1aba5238
https://doi.org/10.1007/s00401-023-02579-9

المؤلفون: Marne C. Hagemeijer, Jeroen C. van den Bosch, Michiel Bongaerts, Edwin H. Jacobs, Johanna M. P. van den Hout, Esmee Oussoren, George J. G. Ruijter

المساهمون: Clinical Genetics, Pediatrics

المصدر: Journal of Inherited Metabolic Disease, 46(2), 206-219. Springer Netherlands

مصطلحات موضوعية: Genetics, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b9c70f5f7449b302e79db2c2a9ae45
https://pure.eur.nl/en/publications/2c037acc-9f86-40d9-adfb-4a386ea040a6

المؤلفون: Ramon Bonte, Michiel Bongaerts, Serwet Demirdas, Janneke G. Langendonk, Hidde H. Huidekoper, Monique Williams, Willem Onkenhout, Edwin H. Jacobs, Henk J. Blom, George J. G. Ruijter

المصدر: Metabolites; Volume 9; Issue 12; Pages: 289

مصطلحات موضوعية: metabolomics, inborn errors of metabolism, LC-MS, HRAM-MS, Orbitrap, PFPP, IEM, organic aciduria, urea cycle defects, PKU

وصف الملف: application/pdf

Relation: Endocrinology and Clinical Metabolic Research; https://dx.doi.org/10.3390/metabo9120289

الاتاحة: https://doi.org/10.3390/metabo9120289

المؤلفون: Birthe Roos, Marjo S. van der Knaap, Shanice Beerepoot, Charlotte E. Teunissen, Jaap Jan Boelens, Edwin H. Jacobs, Hans Heijst, Caroline A. Lindemans, Nicole I. Wolf, Mirjam M.C. Wamelink, Peter M. van Hasselt

المساهمون: Laboratory Genetic Metabolic Diseases, Clinical chemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Amsterdam Neuroscience - Neurodegeneration, Amsterdam Neuroscience - Neuroinfection & -inflammation, CCA - Cancer biology and immunology, Functional Genomics, Laboratory Medicine, Amsterdam Reproduction & Development (AR&D), Clinical Genetics

المصدر: Brain, 145(1), 105-118. Oxford University Press
Beerepoot, S, Heijst, H, Roos, B, Wamelink, M M C, Boelens, J J, Lindemans, C A, van Hasselt, P M, Jacobs, E H, van der Knaap, M S, Teunissen, C E & Wolf, N I 2022, ' Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy ', Brain, vol. 145, no. 1, pp. 105-118 . https://doi.org/10.1093/brain/awab304
Brain, 145(1), 105-118
Beerepoot, S, Heijst, H, Roos, B, Wamelink, M M C, Boelens, J J, Lindemans, C A, Van Hasselt, P M, Jacobs, E H, Van Der Knaap, M S, Teunissen, C E & Wolf, N I 2022, ' Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy ', Brain, vol. 145, no. 1, pp. 105-118 . https://doi.org/10.1093/brain/awab304

مصطلحات موضوعية: Arylsulfatase A, medicine.medical_specialty, Intermediate Filaments, Metachromatic/diagnostic imaging, Gastroenterology, metachromatic leukodystrophy, SDG 3 - Good Health and Well-being, Interquartile range, Neurofilament Proteins, Internal medicine, neurofilament light, Glial Fibrillary Acidic Protein, medicine, Humans, Child, Retrospective Studies, Glial fibrillary acidic protein, biology, business.industry, Leukodystrophy, Liter, Retrospective cohort study, Leukodystrophy, Metachromatic, Leukodystrophy, Metachromatic/diagnostic imaging, medicine.disease, Magnetic Resonance Imaging, arylsulfatase A, Metachromatic leukodystrophy, glial fibrillary acidic protein, biology.protein, Biomarker (medicine), biomarker, Neurology (clinical), business, Biomarkers

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f24c2d30ace6baa768074b568155255a
http://www.scopus.com/inward/record.url?scp=85120653311&partnerID=8YFLogxK

المؤلفون: J. Schaefers, A.T. van der Ploeg, S. Sieverdink, J. K. H. Spoor, M. H. G. Dremmen, Edwin H. Jacobs, L. J. van der Giessen, J. M. P. van den Hout, Hidde H. Huidekoper, C. Klees

المساهمون: Pediatrics, Orthopedics and Sports Medicine, Child and Adolescent Psychiatry / Psychology, Clinical Genetics, Radiology & Nuclear Medicine, Neurosurgery

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 16(1):221. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Lysosomal storage disorder, Tripeptidyl peptidase, Presymptomatic, Cerliponase alfa, Disease, CLN2 disease, Bayley Scales of Infant Development, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Medicine, Humans, Pharmacology (medical), Toddler, Late-infantile neuronal ceroid lipofuscinosis, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Genetics (clinical), Tripeptidyl-Peptidase 1, business.industry, Research, Infant, General Medicine, Enzyme replacement therapy, Recombinant Proteins, Neuronal Ceroid Lipofuscinosis Type 2, 030104 developmental biology, Child, Preschool, Intracerebroventricular, Evoked Potentials, Visual, Cerebellar atrophy, business, 030217 neurology & neurosurgery, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::826aa62f4a612dc16473ce736a138c8b
https://pubmed.ncbi.nlm.nih.gov/33990214

المؤلفون: Eugin Destici, Edwin H Jacobs, Filippo Tamanini, Maarten Loos, Gijsbertus T J van der Horst, Małgorzata Oklejewicz

المصدر: PLoS ONE, Vol 8, Iss 12, p e83602 (2013)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC3873389?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/be7676d756794327b96f1524d9f45afb

الاتاحة: https://doi.org/10.1371/journal.pone.0083602
https://doaj.org/article/be7676d756794327b96f1524d9f45afb

المؤلفون: Edwin H. Jacobs, Marjo S. van der Knaap, André B.P. van Kuilenburg, Shanice Beerepoot, Nicole I. Wolf, Gajja S. Salomons, Jaap Jan Boelens, Silvy J. M. van Dooren

المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Clinical chemistry, AGEM - Inborn errors of metabolism, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Reproduction & Development (AR&D), Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Functional Genomics, Clinical Genetics

المصدر: Beerepoot, S, van Dooren, S J M, Salomons, G S, Boelens, J J, Jacobs, E H, van der Knaap, M S, van Kuilenburg, A B P & Wolf, N I 2020, ' Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients ', Neurogenetics, vol. 21, no. 4, pp. 289-299 . https://doi.org/10.1007/s10048-020-00621-6
Neurogenetics
Neurogenetics, 21(4), 289-299. Springer Verlag
Neurogenetics, 21(4), 289-299. Springer-Verlag

مصطلحات موضوعية: 0301 basic medicine, Male, Arylsulfatase A, Genetic association studies, Adolescent, Genotype, Population, Mutation, Missense, Biology, Genetic analysis, complex mixtures, Metachromatic leukodystrophy, Frameshift mutation, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, ARSA gene, education, Child, Frameshift Mutation, Genetics (clinical), Alleles, Cerebroside-Sulfatase, Netherlands, Retrospective Studies, education.field_of_study, Infant, Exons, Leukodystrophy, Metachromatic, medicine.disease, 030104 developmental biology, Phenotype, Codon, Nonsense, Child, Preschool, Pseudodeficiency alleles, Mutation, Original Article, Female, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e2faa65b657b3b3fe75d811b8adbea8
https://hdl.handle.net/1871.1/a282d6eb-d470-432b-8590-0ac812186cff

المؤلفون: Marshall W. Huston, Edwin H. Jacobs, Gerard Wagemaker, Onno Roovers, Elza D. van Deel, Helen de Boer, Arnold J.J. Reuser, Dirk J. Duncker, Niek P. van Til, Holger Jahr, Trudi P. Visser, Merel Stok

المساهمون: Pediatrics, Hematology, Clinical Genetics, Molecular Genetics, Orthopedics and Sports Medicine, Cardiology

المصدر: Molecular Therapy-Methods & Clinical Development, 17, 1014-1025. Cell Press
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 1014-1025 (2020)
Molecular Therapy. Methods & Clinical Development

مصطلحات موضوعية: 0301 basic medicine, murine Pompe disease, lcsh:QH426-470, Receptor expression, medicine.medical_treatment, Genetic enhancement, Hematopoietic stem cell transplantation, Article, Viral vector, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Genetics, medicine, skeletal muscle, lcsh:QH573-671, Molecular Biology, Glycogen, lcsh:Cytology, business.industry, lentiviral vector, Hematopoietic stem cell, Skeletal muscle, Enzyme replacement therapy, central nervous system, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, chemistry, 030220 oncology & carcinogenesis, hematopoietic stem cell transplantation, acid α-glucosidase, Cancer research, Molecular Medicine, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb5f7dcb16f73f160c5eadec14494bb6
https://pubmed.ncbi.nlm.nih.gov/32462050

المؤلفون: Nuzhat Rana, Edwin H. Jacobs, Ehsan Ghayoor Karimiani, Amber Begtrup, Jozef Hertecant, Evita Medici-van den Herik, Mohammad Doosti, Gouri Rao Passi, Mohammadreza Dehghani, Tjakko J. van Ham, Mariya Kozenko, Laila AlQuait, Mohammad Yahya Vahidi Mehrjardi, Dilek Colak, Herma C. van der Linde, Henry Houlden, Eleonora Aronica, Huma Arshad Cheema, Jennefer N. Kohler, Namik Kaya, Krishna Kumar Kandaswamy, Salem Alwadaee, Maysoon Alsagob, Woutje M. Berdowski, Zaynab Khazaei, Renjith Mani, Faisal Al Azri, Amna Al Futaisi, Stephanie Efthymiou, Majid Mojarrad, Aida M. Bertoli-Avella, Murat Gunel, Tahsin Stefan Barakat, Wilfred F. J. van IJcken, Kristin G. Monaghan, Rebecca I. Torene, Atieh Eslahi, Fathiya Al Murshedi, Khalid Awartani, Peter Bauer, Muddathir H. Hamad, Kyle Retterer, Reza Maroofian, Rawan Almass, Erik-Jan Kamsteeg, Serdar Coskun, Jonathan A. Bernstein, Elena Perenthaler, Anita Nikoncuk, Mohammed A. AlMuhaizea, Jana Vandrovcova, Anas M. Dababo, Soheil Yousefi, Fateme Massinaei Darmiyan, Mustafa A. Salih, Lauren Brick, A. Gulhan Ercan-Sencicek, Futwan Al-Mohanna, Ivan Čapo, Faisal Zafar, Khaled O. Alahmadi, Marjon van Slegtenhorst, Walter G. de Valk, Mazhor Al-Dosary, Wafa Qubbaj, Alice S. Brooks, Mehrnaz Ghazvini, Paul van den Berg, Darija Putar

المساهمون: Clinical Genetics, Cell biology, Neurology, Pathology, ANS - Cellular & Molecular Mechanisms, APH - Aging & Later Life, APH - Mental Health

المصدر: Acta Neuropathologica, 139(3), 415-442. Springer-Verlag
Acta Neuropathologica, 139, 3, pp. 415-442
Acta Neuropathologica
Acta neuropathologica, 139(3), 415-442. Springer Verlag
Acta Neuropathologica, 139, 415-442

مصطلحات موضوعية: Gene isoform, Protein isoform, Male, Microcephaly, Recurrent mutation, UTP-Glucose-1-Phosphate Uridylyltransferase, UGP2, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, epileptic encephalopathy, ATG mutations, start-loss mutation, genetics, whole exome sequencing, microcephaly, recurrent mutation, founder mutation, essential gene, medicine, Genetics, Missense mutation, Animals, Humans, Allele, Founder mutation, Zebrafish, Exome sequencing, 030304 developmental biology, 0303 health sciences, Mutation, Original Paper, Brain Diseases, Genes, Essential, biology, Epileptic encephalopathy, Whole exome sequencing, Infant, biology.organism_classification, medicine.disease, 3. Good health, Pedigree, Start-loss mutation, Essential gene, Child, Preschool, Female, Neurology (clinical), Epileptic Syndromes, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3763955237f06a661ebe545f037093af
https://pure.eur.nl/en/publications/32aeca04-fe43-4a01-9a05-6c1a562db28c

المؤلفون: Henry Houlden, Aida M. Bertoli-Avella, Marjon van Slegtenhorst, Edwin H. Jacobs, Ehsan Ghayoor Karimiani, Eleonora Aronica, Peter Bauer, Atieh Eslahi, Amna Al Futaisi, Tjakko J. van Ham, Jennefer N. Kohler, Stephanie Efthymiou, Reza Maroofian, Darija Putar, Mariya Kozenko, Jana Vandrovcova, Walter G. de Valk, Jonathan A. Bernstein, Amber Begtrup, Kyle Retterer, Renjith Mani, Jozef Hertecant, Evita Medici-van den Herik, Alice S. Brooks, Elena Perenthaler, Rebecca I. Torene, Woutje M. Berdowski, Wilfred F. J. van IJcken, Kristin G. Monaghan, Majid Mojarrad, Nuzhat Rana, Anita Nikoncuk, Faisal Zafar, Tahsin Stefan Barakat, Paul van den Berg, Soheil Yousefi, Krishna Kumar Kandaswamy, Ivan Čapo, Fathiya Al Murshedi, Fateme Massinaei Darmiyan, Faisal Al Azri, Lauren Brick, Erik-Jan Kamsteeg, Mehrnaz Ghazvini, Herma C. van der Linde, Mohammad Doosti, Zaynab Khazaei

مصطلحات موضوعية: Gene isoform, Protein isoform, Genetics, 0303 health sciences, Mutation, Biology, medicine.disease_cause, biology.organism_classification, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, medicine, Missense mutation, Allele, Gene, Zebrafish, 030217 neurology & neurosurgery, Exome sequencing, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c4b577045a973710996858873c7795
https://doi.org/10.1101/799841

المؤلفون: Hidde H Huidekoper, Willem Onkenhout, Ramon Bonte, Monique Williams, Edwin H. Jacobs, Serwet Demirdas, George J G Ruijter, Janneke G. Langendonk, Henk J Blom, Michiel Bongaerts

المساهمون: Clinical Genetics, Internal Medicine, Pediatrics

المصدر: Metabolites
Metabolites, 9(12):289. Multidisciplinary Digital Publishing Institute (MDPI)
Volume 9
Issue 12

مصطلحات موضوعية: 0301 basic medicine, HRAM-MS, Computer science, Endocrinology, Diabetes and Metabolism, PFPP, inborn errors of metabolism, Computational biology, Orbitrap, Biochemistry, Article, law.invention, 03 medical and health sciences, 0302 clinical medicine, Metabolomics, organic aciduria, law, Screening method, Sample preparation, Diagnostic screening, Molecular Biology, Orbitrap ms, IEM, metabolomics, LC-MS, 030104 developmental biology, Untargeted metabolomics, urea cycle defects, PKU, Semi automatic, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ceb10a9cd55328cb33ca6196cd8f677
https://pure.eur.nl/en/publications/b8daea14-675b-4daa-b905-bf52eea53166

المؤلفون: Efstathios B. Papachristos, Edwin H. Jacobs, Ype Elgersma

المساهمون: Molecular Genetics, Neurosciences

المصدر: Journal of Biological Rhythms, 26(4), 305-313. SAGE Publishing

مصطلحات موضوعية: Male, Physiology, Circadian clock, Biology, 03 medical and health sciences, Mice, 0302 clinical medicine, Cryptochrome, Physiology (medical), medicine, Animals, 0501 psychology and cognitive sciences, 050102 behavioral science & comparative psychology, Gene knockout, Mice, Knockout, Mechanism (biology), 05 social sciences, medicine.disease, Circadian Rhythm, Cryptochromes, Interval (music), Schizophrenia, Master clock, Female, Timer, Neuroscience, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66e10234cafb1450d8d7442fee1a1bef
https://doi.org/10.1177/0748730411410026

المؤلفون: Edwin H. Jacobs, Pascal van der Wegen, Fatima S. F. Aerts Kaya, Bob J. Scholte, Merel Stok, Trudi P. Visser, Ans T. van der Ploeg, Bart N. Lambrecht, Dirk J. Duncker, Arnold J. J. Reuser, Gerard Wagemaker, Monique Willart, Elnaz Farahbakhshian, Monique C. de Waard, Niek P. van Til, Marian A. Kroos, Monique M A Verstegen

المساهمون: Hematology, Molecular Genetics, Clinical Genetics, Pulmonary Medicine, Cell biology, Cardiology, Pediatrics

المصدر: Blood, 115(26), 5329-5337. American Society of Hematology

مصطلحات موضوعية: Hematopoietic System, Genetic enhancement, medicine.medical_treatment, Genetic Vectors, Immunology, Gene Expression, Hematopoietic stem cell transplantation, Motor Activity, Biology, Chimerism, Biochemistry, Mice, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Transduction, Genetic, Glycogen storage disease type II, medicine, Animals, Humans, Respiratory function, Cells, Cultured, 030304 developmental biology, Mice, Knockout, 0303 health sciences, Glycogen Storage Disease Type II, Lentivirus, Hematopoietic Stem Cell Transplantation, Hematopoietic stem cell, alpha-Glucosidases, Genetic Therapy, Cell Biology, Hematology, Enzyme replacement therapy, Hematopoietic Stem Cells, medicine.disease, 3. Good health, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Acid alpha-glucosidase, Stem cell, Glycogen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24f6d34f10c00552fc1c0ecec569ecb
https://doi.org/10.1182/blood-2009-11-252874

المؤلفون: Robbert Havekes, R. Paulien Barf, Menno P. Gerkema, Edwin H. Jacobs, Ingrid M. Nijholt, Roelof A. Hut, Eddy A. van der Zee

المساهمون: Van der Zee lab, Havekes lab, Scheurink lab, Hut lab, Beersma lab

المصدر: Current Biology, 18(11), 844-848. CELL PRESS

مصطلحات موضوعية: PASSIVE-AVOIDANCE, CLOCK, Endogeny, Sensory system, Stimulus (physiology), Biology, MOLNEURO, General Biochemistry, Genetics and Molecular Biology, RATS, 03 medical and health sciences, Mice, 0302 clinical medicine, Rhythm, Cryptochrome, FOOD, GARDEN WARBLERS, Animals, Circadian rhythm, PERIODIC INTERVALS, 030304 developmental biology, Mice, Knockout, 0303 health sciences, Agricultural and Biological Sciences(all), Reproductive success, Flavoproteins, Biochemistry, Genetics and Molecular Biology(all), MEMORY, Association Learning, Circadian Rhythm, RHYTHMS, Cryptochromes, Mice, Inbred C57BL, SYLVIA-BORIN, RETENTION DEFICITS, SYSNEURO, General Agricultural and Biological Sciences, Neuroscience, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f7e7ada84ab3c8741182b2d3371e2bb
https://doi.org/10.1016/j.cub.2008.04.077