المؤلفون: Arjan P.M. de Brouwer, Angel Ashikov, Rita Gerardy-Schahn, Samuel Schmidt, Joris H. Robben, Miski Mohamed, Maïlys Guillard, Ron A. Wevers, B. van den Heuvel, Peter M.T. Deen, Eva Morava, Dirk Lefeber

المصدر: Neurology, 81, 7, pp. 681-7
Neurology, 81, 681-7

مصطلحات موضوعية: Male, Chemical and physical biology [NCMLS 7], medicine.medical_specialty, Glycosylation, Ataxia, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], DCN MP - Plasticity and memory, Blotting, Western, DNA Mutational Analysis, Mutant, Mutation, Missense, Biology, Hemorrhagic Disorders, medicine.disease_cause, Polymorphism, Single Nucleotide, Renal disorder Energy and redox metabolism [IGMD 9], Abnormal protein glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, Child, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Genetics, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], medicine.disease, Disease gene identification, Pedigree, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Renal disorder Membrane transport and intracellular motility [IGMD 9], carbohydrates (lipids), Bleeding diathesis, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, Cytidine Monophosphate N-Acetylneuraminic Acid, Nucleotide Transport Proteins, Mutation testing, Female, Neurology (clinical), medicine.symptom

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd2210be2243f322d3a0fb594dd4238Test
https://doi.org/10.1212/wnl.0b013e3182a08f53Test

المؤلفون: Arjen R. Mensenkamp, Ron A. Wevers, Jyotsna U. Rao, Angelina G. Goudswaard, Henricus P.M. Kunst, Udo F. H. Engelke, Karel Pacak, Graeme Eisenhofer, Nan Qin, Ad Hermus, Jacques W. M. Lenders, Richard J. Rodenburg, Henri J. L. M. Timmers, Benno Kusters, Fred C.G.J. Sweep

المصدر: Clinical Cancer Research; Vol 19
Clinical Cancer Research, 19, 3787-95
Clinical Cancer Research, 19, 14, pp. 3787-95

مصطلحات موضوعية: Male, Cancer Research, SDHB, Adrenal Gland Neoplasms, Succinic Acid, DCN PAC - Perception action and control, Mitochondrion, Catecholamines, 0302 clinical medicine, Paraganglioma, Citrate synthase, 0303 health sciences, Cardiovascular diseases [NCEBP 14], Electron Transport Complex II, Succinate dehydrogenase, Middle Aged, Mitochondria, 3. Good health, Mitochondrial medicine [IGMD 8], Oncology, 030220 oncology & carcinogenesis, Female, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Genotype, Pheochromocytoma, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, Internal medicine, ONCOL 3 - Translational research DCN MP - Plasticity and memory, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], Hormonal regulation [IGMD 6], Glycostation disorders [IGMD 4], medicine.disease, Endocrinology, Hereditary cancer and cancer-related syndromes Genomic disorders and inherited multi-system disorders [ONCOL 1], biology.protein, Catecholamine, Hormonal regulation Aetiology, screening and detection [IGMD 6], SDHD, Energy Metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8b55612d5f34a85347800592c9f568Test
https://doi.org/10.1158/1078-0432.ccr-12-3922Test

المؤلفون: Barone, RITA MARIA ELISA, Aiello, C, Race, V, Morava, E, Foulquier, F, Riemersma, M, Passarelli, C, Concolino, D, Carella, M, Santorelli, F, Vleugels, W, Mercuri, E, Garozzo, Domenico, Sturiale, L, Messina, S, Jaeken, J, Fiumara, Agata, Wevers, Ra, Bertini, E, Matthijs, G, 2012 Oct, Lefeber D. J. Ann N. e. u. r. o. l., 72:550, 8.

المصدر: Annals of Neurology, 72, 550-8
Annals of neurology 72 (2012): 550–558. doi:10.1002/ana.23632
info:cnr-pdr/source/autori:R.Barone, Ch.Aiello, V.Race, E.Morava, F.Foulquier, M.Riemersma, Ch.Passarelli, D.Concolino, M.Carella, F.Santorelli, W.Vleugels, E.Mercuri, D.Garozzo, L.Sturiale, S.Messina, J.Jaeken, A.Fiumara, R.A.Wevers, E.Bertini, G.Matthijs, D. J.Lefeber/titolo:DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy/doi:10.1002%2Fana.23632/rivista:Annals of neurology/anno:2012/pagina_da:550/pagina_a:558/intervallo_pagine:550–558/volume:72
Annals of Neurology, 72, 4, pp. 550-8

مصطلحات موضوعية: Male, Glycosylation, DNA Mutational Analysis, Drug Resistance, Endoplasmic Reticulum, medicine.disease_cause, Compound heterozygosity, Mannosyltransferases, Muscular Dystrophies, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Pregnancy, Missense mutation, Muscular dystrophy, Child, Dystroglycans, Mutation, Liver Diseases, Middle Aged, Hypotonia, Neurology, Child, Preschool, Microcephaly, Female, medicine.symptom, Lipid glycosylation, Adult, medicine.medical_specialty, Adolescent, Molecular Sequence Data, Mutation, Missense, Vision Disorders, DOLICHOL-PHOSPHATE-MANNOSE, CAUSES CONGENITAL DISORDER, MAMMALIAN-CELLS, GLYCOSYLATION, SYNTHASE, BIOSYNTHESIS, GENE, DPM1, PROTEIN, IE, Coagulation Protein Disorders, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Internal medicine, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Aged, Epilepsy, Electromyography, Endoplasmic reticulum, Infant, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Endocrinology, chemistry, Neurology (clinical), Isoelectric Focusing, Mannose

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f8f06d840958b8a38d6b1ac4c27275Test
https://doi.org/10.1002/ana.23632Test

المؤلفون: David Cheillan, Stella De Man, Suzanna G.M. Frints, Antonia Ribes Rubio, HATEM AZZOUZ, Klary E Niezen-Koning, Efraim Rosenberg, Carla Valongo, Sarina Kant, KATRIN OUNAP

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Laboratory Medicine, Human genetics, NCA - Childhood White Matter Diseases, RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Polikliniek (9)

المصدر: Molecular Genetics and Metabolism, 105(4), 596-601. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 105(4), 596-601. Academic Press Inc.
Molecular Genetics and Metabolism, 105, 596-601
Betsalel, O T, Pop, A, Rosenberg, E H, Fernandez-Ojeda, M, Jakobs, C A J M & Salomons, G S 2012, ' Detection of variants in SLC6A8 and functional analysis of unclassified missense variants ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 596-601 . https://doi.org/10.1016/j.ymgme.2011.12.022Test
Molecular Genetics and Metabolism, 105, 4, pp. 596-601

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, medicine.disease_cause, Biochemistry, Plasma Membrane Neurotransmitter Transport Proteins, chemistry.chemical_compound, Endocrinology, Missense variants, Mental Retardation, Missense mutation, Site-Directed, Cells, Cultured, Genetics, Mutation, Cultured, Blotting, Real-time polymerase chain reaction, Female, Western, Heterozygote, Cells, Blotting, Western, Mutation, Missense, Mutagenesis (molecular biology technique), Nerve Tissue Proteins, Biology, SLC6A8, Creatine, Real-Time Polymerase Chain Reaction, LOVD, Genomic disorders and inherited multi-system disorders [IGMD 3], DHPLC, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, Gene, DCN NN - Brain networks and neuronal communication, Heterozygote advantage, Glycostation disorders [IGMD 4], X-Linked, Fibroblasts, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], chemistry, Mutagenesis, Mental Retardation, X-Linked, Mutagenesis, Site-Directed, Missense, Creatine transporter

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9ae52f281961e053d3c517781e1147Test
https://cris.maastrichtuniversity.nl/en/publications/d080454e-26b4-4a1a-a10c-7b27ead35fbcTest

المؤلفون: Martin Lammens, Robert W. Taylor, H. Barth, Ron A. Wevers, Saskia B. Wortmann, B. Trutnau, Richard J. Rodenburg, Kate Craig, Michael Champion, Eva Morava, Lambert P. van den Heuvel, Jan A.M. Smeitink, Michiel F. Schreuder

المساهمون: Pediatric surgery, ICaR - Circulation and metabolism

المصدر: Wortmann, S B, Champion, M P, van den Heuvel, L, Barth, H, Trutnau, B, Craig, K, Lammens, M, Schreuder, M F, Taylor, R W, Smeitink, J A M, Wevers, R A, Rodenburg, R J & Morava, E 2012, ' Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? ', European Journal of Medical Genetics, vol. 55, no. 10, pp. 552-556 . https://doi.org/10.1016/j.ejmg.2012.06.002Test
European Journal of Medical Genetics, 55, 10, pp. 552-6
European Journal of Medical Genetics, 55, 552-6
European Journal of Medical Genetics, 55(10), 552-556. Elsevier Masson SAS

مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, medicine.medical_specialty, RNA, Transfer, Leu, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Encephalopathy, MELAS syndrome, Renal disorder Energy and redox metabolism [IGMD 9], Gastroenterology, DNA, Mitochondrial, Genomic disorders and inherited multi-system disorders [IGMD 3], Kearns–Sayre syndrome, Renal tubular acidosis, Mitochondrial myopathy, Renal tubular dysfunction, Internal medicine, Genetics, medicine, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Creatine Kinase, Genetics (clinical), Renal disorder [IGMD 9], business.industry, Hypertrophic cardiomyopathy, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Infant, General Medicine, Acidosis, Renal Tubular, Syndrome, Glycostation disorders [IGMD 4], Cardiomyopathy, Hypertrophic, medicine.disease, Pedigree, Renal disorder Membrane transport and intracellular motility [IGMD 9], Mitochondrial medicine [IGMD 8], Endocrinology, Genes, Mitochondrial, Lactic acidosis, Mutation, Muscle Hypotonia, Acidosis, Lactic, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9f553e87ca4aa8cbe20ede63dc2774Test
https://hdl.handle.net/1871/42986Test

المؤلفون: Bernard Bloem, Eric W. Roubos, Eva Morava, Lu Xu, Miklós Palkovits, Tamas Kozicz, Gabor Faludi

المصدر: Neuropharmacology, 62, 297-303
Neuropharmacology, 62, 1, pp. 297-303

مصطلحات موضوعية: Adult, Male, Cart, medicine.medical_specialty, Functional Neurogenomics Human Movement & Fatigue [DCN 2], Neurophysiology, Nerve Tissue Proteins, Cocaine and amphetamine regulated transcript, Cellular and Molecular Neuroscience, Mesencephalon, Internal medicine, medicine, Humans, Nucleobindins, RNA, Messenger, Psychiatry, Depression (differential diagnoses), Aged, Pharmacology, Analysis of Variance, Sex Characteristics, Depression, Calcium-Binding Proteins, Glycostation disorders [IGMD 4], Middle Aged, medicine.disease, Nucleobindin 2, DNA-Binding Proteins, Suicide, Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10], Endocrinology, Mood, Mood disorders, Postmortem Changes, Anxiety, Major depressive disorder, Female, medicine.symptom, Psychology, Microdissection

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d28cca57326771353da32feba29b8ba9Test
https://doi.org/10.1016/j.neuropharm.2011.07.023Test

المؤلفون: C.E.M. Hollak, Wouter Meersseman, Eva Morava, M. F. Mulder, Dirk J. Lefeber, Frits A. Wijburg, Johannes M. F. G. Aerts, David Cassiman, Gepke Visser, E S de Sonnaville, Erik M. Akkerman, Ben J. H. M. Poorthuis, Marcel M.A.M. Mannens, K. E. Niezen-Koning, Ron A. Wevers, Gabor E. Linthorst, Johanna E. M. Groener

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM), Pediatric surgery, CCA - Innovative therapy, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, Human Genetics, ANS - Amsterdam Neuroscience, Radiology and Nuclear Medicine, Paediatric Metabolic Diseases

المصدر: Molecular Genetics and Metabolism, 107, 3, pp. 526-33
Molecular Genetics and Metabolism, 107(3), 526-533. ACADEMIC PRESS INC ELSEVIER SCIENCE
Hollak, C E M, de Sonnaville, E S V, Cassiman, D, Linthorst, G E, Groener, J E, Morava, E, Wevers, R A, Mannens, M, Aerts, J M F G, Meersseman, W, Akkerman, E, Niezen-Koning, K E, Mulder, M F, Visser, G, Wijburg, A, Lefeber, D & Poorthuis, B J H M 2012, ' Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients ', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 526-533 . https://doi.org/10.1016/j.ymgme.2012.06.015Test
Molecular Genetics and Metabolism, 107(3), 526-533. Academic Press Inc.
Molecular genetics and metabolism, 107(3), 526-533. Academic Press Inc.
Molecular Genetics and Metabolism, 107, 526-33

مصطلحات موضوعية: Male, Pathology, NIEMANN-PICK-DISEASE, Endocrinology, Diabetes and Metabolism, Compound heterozygosity, Biochemistry, Gastroenterology, Severity of Illness Index, Pulmonary function testing, GAUCHER-DISEASE, Endocrinology, Belgium, Prospective Studies, Child, Lung, Netherlands, Niemann-Pick disease type B, Enzyme replacement therapy, Niemann-Pick Disease, Type B, Middle Aged, Niemann-Pick Disease, Type A, INTERMEDIATE PHENOTYPE, Respiratory Function Tests, PREVALENCE, medicine.anatomical_structure, Sphingomyelin Phosphodiesterase, Child, Preschool, Female, Niemann–Pick disease, Hepatomegaly, Adult, medicine.medical_specialty, Adolescent, Anemia, DISORDERS, BONE-MARROW, Genomic disorders and inherited multi-system disorders [IGMD 3], Internal medicine, Genetics, medicine, Humans, CHITOTRIOSIDASE, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, DCN NN - Brain networks and neuronal communication, Retrospective Studies, Cytopenia, business.industry, MUTATIONS, Infant, Glycostation disorders [IGMD 4], medicine.disease, Quantitative chemical shift imaging, Mutation, Splenomegaly, Acid sphingomyelinase (ASM) deficiency, Bone marrow, Pulmonary disease, business, Tomography, X-Ray Computed, Visceromegaly, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cffb6f2735ad337822712453fbd80ceTest
https://doi.org/10.1016/j.ymgme.2012.06.015Test

المؤلفون: Lambert P. van den Heuvel, Kinga Hadzsiev, Willy M. Nillesen, G Gillessen-Kaesbach, Eva Morava, Katalin Hollody, Martin Lammens, Cees Noordam, Ernie M.H.F. Bongers, Jan A.M. Smeitink, Ineke van der Burgt, Richard J. Rodenburg, Saskia B. Wortmann, Tjitske Kleefstra

المصدر: European Journal of Human Genetics, 19, 138-44
European Journal of Human Genetics, 19, 2, pp. 138-44

مصطلحات موضوعية: Heart Defects, Congenital, Mitochondrial encephalomyopathy, medicine.medical_specialty, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], MAP Kinase Signaling System, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Biology, Bioinformatics, DNA, Mitochondrial, LEOPARD Syndrome, Renal disorder Energy and redox metabolism [IGMD 9], Article, Craniofacial Abnormalities, Proto-Oncogene Proteins p21(ras), Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial Encephalomyopathies, Internal medicine, Genetics, medicine, Perception and Action [DCN 1], Humans, Abnormalities, Multiple, HRAS, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Inner mitochondrial membrane, Genetics (clinical), Renal disorder [IGMD 9], Infant, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Barth syndrome, Middle Aged, 3-Methylglutaconic Aciduria, Glycostation disorders [IGMD 4], medicine.disease, PTPN11, Renal disorder Membrane transport and intracellular motility [IGMD 9], Endocrinology, Mitochondrial medicine [IGMD 8], Child, Preschool, Barth Syndrome, Mutation, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Skin Abnormalities, ras Proteins, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d198fcb1a856576a63dd57f2676facTest
https://hdl.handle.net/2066/97118Test

المؤلفون: Stefan Ljunggren, Helen Karlsson, Dirk Lefeber, Geesje M. Dallinga-Thie, Johannes M. F. G. Aerts, Daniel S. Herman, Johannes H.M. Levels, Erik S.G. Stroes, John J.P. Kastelein, Eva Morava, Jan Albert Kuivenhoven, Thomas M. Beres, Ruei Shiuan Lin, Jonathan G. Seidman, M. Mahdi Motazacker, Aeilko H. Zwinderman, Timothy A. Fritz, Lawrence A. Tabak, Christine E. Seidman, Adriaan G. Holleboom, Ron A. Wevers, Jeroen A. Sierts, Mats Lindahl, G. Kees Hovingh

المساهمون: Vascular Medicine, Other departments, Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Human Genetics, Amsterdam institute for Infection and Immunity, Experimental Vascular Medicine, Amsterdam Public Health, Epidemiology and Data Science, Cardiovascular Centre (CVC), Lifestyle Medicine (LM), Vascular Ageing Programme (VAP), Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Cell metabolism, 14(6), 811-818. Cell Press
Cell metabolism, 14(6), 811-818. CELL PRESS
Cell Metabolism, 14, 6, pp. 811-8
CELL METABOLISM, 14(6), 811-818
Cell Metabolism, 14, 811-8

مصطلحات موضوعية: Male, Apolipoprotein B, Physiology, Neuroinformatics [DCN 3], 030204 cardiovascular system & hematology, chemistry.chemical_compound, 0302 clinical medicine, Electrophoresis, Gel, Two-Dimensional, APOLIPOPROTEIN-C-III, 0303 health sciences, Lipoprotein lipase, Middle Aged, Postprandial Period, Cholesterol, Biochemistry, N-Acetylgalactosaminyltransferases, Female, lipids (amino acids, peptides, and proteins), LIPOPROTEIN-LIPASE S447X, Adult, Heterozygote, medicine.medical_specialty, Glycosylation, 2-DIMENSIONAL GEL-ELECTROPHORESIS, METABOLISM, Biology, Models, Biological, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Internal medicine, medicine, Humans, Lipase, Molecular Biology, Aged, 030304 developmental biology, Apolipoprotein C-III, APOPROTEINS, Triglyceride, GLYCOSYLATION, Lipid metabolism, MASS-SPECTROMETRY, Cell Biology, Glycostation disorders [IGMD 4], HEPATIC-UPTAKE, Lipoprotein Lipase, Endocrinology, chemistry, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Mutation, RICH LIPOPROTEINS, biology.protein, ANGIOPOIETIN-LIKE PROTEIN-3, Peptides

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3eee28c011254c8aba1d859939c48feTest
https://doi.org/10.1016/j.cmet.2011.11.005Test

المؤلفون: Jorieke E. H. Bergman, Vincent Cantagrel, Jeroen Schoots, Dirk J. Lefeber, Michèl A.A.P. Willemsen, Peter Bluemel, Christian Körner, Ron A. Wevers, Georg F. Hoffmann, Bobby G. Ng, Karin Huijben, Connie M. A. van Ravenswaaij-Arts, Maciej Adamowicz, Hans van Bokhoven, Dusica Babovic-Vuksanovic, Arjan P.M. de Brouwer, Arno van Rooij, Lihadh Al-Gazali, Jeroen van Reeuwijk, Eva Morava, Marjolein C. J. Jongmans, Ludwig Lehle, Jolanta Sykut-Cegielska, Lies H. Hoefsloot, Joseph G. Gleeson

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Brain, 133, 11, pp. 3210-20
Brain, 133, 3210-3220. Oxford University Press
Brain, 133, 3210-20

مصطلحات موضوعية: Male, Pathology, Glycosylation, Polyprenol reductase, Genetics and epigenetic pathways of disease [NCMLS 6], Eye Diseases, Neuroinformatics [DCN 3], CHARGE syndrome, chemistry.chemical_compound, Dolichols, dolichol metabolism, Child, Cerebellar hypoplasia, JOUBERT-SYNDROME, SRD5A3-CDG, Homozygote, polyprenol reductase, Syndrome, Hypoplasia, CDG type Iq, cataract, CHARGE-SYNDROME, Child, Preschool, coloboma, Female, lipids (amino acids, peptides, and proteins), medicine.symptom, Functional Neurogenomics [DCN 2], medicine.medical_specialty, CONGENITAL DISORDERS, Biology, Joubert syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], Abnormal glycosylation, Dolichol, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Cerebellar Diseases, Internal medicine, medicine, Humans, BIOSYNTHESIS, SPECTRUM, Cerebellar ataxia, MUTATIONS, vermis hypoplasia, Infant, Membrane Proteins, Original Articles, Glycostation disorders [IGMD 4], Lipid Metabolism, medicine.disease, GENE, carbohydrates (lipids), glaucoma, Endocrinology, chemistry, Mutation, SRD5A3, CDG, Neurology (clinical), AUTOSOMAL RECESSIVE SYNDROME, MENTAL-RETARDATION, congenital disorders of glycosylation, Microsatellite Repeats

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea1dc7bce4c935f88e51dacb8481f2dTest
https://doi.org/10.1093/brain/awq261Test