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المؤلفون: Wendy Pluk, S. P. Strijk, Esmé Waanders, Anke L. L. Lameris, Jolein Gloerich, Joost P.H. Drenth, Huub J. M. Op den Camp
المصدر: Journal of Proteome Research, 7, 2490-2495
Journal of Proteome Research, 7, 6, pp. 2490-2495مصطلحات موضوعية: Male, Mutant, Membrane transport and intracellular motility [NCMLS 5], Biology, Transfection, Biochemistry, Cell Line, Genomic disorders and inherited multi-system disorders [IGMD 3], Paracrine signalling, Dogs, Western blot, Tandem Mass Spectrometry, medicine, Animals, Humans, Cyst, Molecular gastro-enterology and hepatology [IGMD 2], Autocrine signalling, Serum Albumin, medicine.diagnostic_test, PRKCSH, Cysts, Polycystic liver disease, Cyst Fluid, Liver Diseases, Calcium-Binding Proteins, Intracellular Signaling Peptides and Proteins, General Chemistry, Blood Proteins, Glycostation disorders [IGMD 4], Nutrition and Health [UMCN 5.5], medicine.disease, Molecular biology, Ecological Microbiology, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Mutation, Electrophoresis, Polyacrylamide Gel, Female, Functional Imaging [UMCN 1.1], Glucosidases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a406ed57d9fd5b3b4ff73c8c72ac73eTest
https://pubmed.ncbi.nlm.nih.gov/18419150Test -
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المؤلفون: Morad Khayat, Mordechai Ben Elisha, Vered Fleisher Sheffer, Stanley H. Korman, Sylvia Hershckowitz, Zalman Weintraub, Pnina Frankel, Ron A. Wevers, Tzipora C Falik-Zaccai
المصدر: Molecular Genetics and Metabolism, 94, 4, pp. 431-4
Molecular Genetics and Metabolism, 94, 431-4مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, PNPO, Gene Expression, Neuroinformatics [DCN 3], Biochemistry, Exon, Consanguinity, Endocrinology, Cricetinae, Prenatal Diagnosis, Perception and Action [DCN 1], Genetics, medicine.diagnostic_test, Pyridoxine, Exons, Pyridoxaminephosphate Oxidase, Pedigree, Codon, Nonsense, Female, medicine.drug, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Genetic counseling, Prenatal diagnosis, CHO Cells, Biology, Cricetulus, Seizures, Internal medicine, medicine, Animals, Humans, Point Mutation, Genetic Testing, Molecular Biology, Genetic testing, Wild type, Infant, Newborn, Brain Diseases, Metabolic, Inborn, Glycostation disorders [IGMD 4], Neuromuscular development and genetic disorders [UMCN 3.1], Genetic defects of metabolism [UMCN 5.1], Amino Acid Substitution, Mutagenesis, Site-Directed
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43dbb7ed5f27fc19d3a2d9465017b94Test
https://pubmed.ncbi.nlm.nih.gov/18485777Test -
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المؤلفون: Marjan Huizing, Rolph Pfundt, Athanasios Evangeliou, Jan A.M. Smeitink, David H. Adams, Bert B.A. de Vries, Meropi Tzoufi, Hans Scheffer, Eva Morava, Henk J. ter Laak, Evangelos Marinos, Alexandros Makis, Despina G. Contopoulos-Ioannidis, Richard A. Hess
المصدر: American Journal of Medical Genetics. Part A, 146A, 3100-3
American Journal of Medical Genetics. Part A, 146A, 23, pp. 3100-3مصطلحات موضوعية: Platelet Storage Pool Deficiency, medicine.medical_specialty, Photophobia, Energy and redox metabolism [NCMLS 4], Adolescent, Platelet Storage Pool Deficiency/complications/*diagnosis/pathology, Rhabdomyolysis, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Recurrence, Internal medicine, Genetics, medicine, Perception and Action [DCN 1], Humans, Genetic Predisposition to Disease, Genetics (clinical), Pigmentation disorder, OCA2, Platelet storage pool deficiency, business.industry, Malignant hyperthermia, Malignant Hyperthermia/genetics, Rhabdomyolysis/complications/*diagnosis/pathology, Glycostation disorders [IGMD 4], medicine.disease, Oculocutaneous albinism, Dermatology, eye diseases, Neuromuscular development and genetic disorders [UMCN 3.1], Bleeding diathesis, Endocrinology, Mitochondrial medicine [IGMD 8], Phenotype, Genetic defects of metabolism [UMCN 5.1], Albinism, Oculocutaneous, Albinism, Albinism, Oculocutaneous/complications/*diagnosis/pathology, Female, medicine.symptom, business, Cellular energy metabolism [UMCN 5.3], Malignant Hyperthermia, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf; Print
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5ee645a279af12ff7e2c250324cd58bTest
http://olympias.lib.uoi.gr/jspui/handle/123456789/18742Test -
74
المؤلفون: Anneke J. van der Kooi, Marianne de Visser, Eva Morava, Ana Ferreiro, Annie Laquerrière, Jean Jacques Martin, Annick Rossi, Sabrina Sacconi, Julien Fauré, Isabelle Marty, Brigitte Estournet, L. Lazaro, Joël Lunardi, Nicole Monnier, Claudia Castiglioni, Corien Verschuuren, Norma B. Romero, Claude Desnuelle
المساهمون: Laboratoire de biochimie et génétique moléculaire, CHU Grenoble, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Servicio di Neurologia, Clinica Las Condes, Fédération des Maladies Neuromusculaires, Centre Hospitalier Universitaire de Nice (CHU Nice), Hôpital Raymond Poincaré [AP-HP], Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Anatomie et Cytologie Pathologique [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Département de Biochimie et Génétique Moléculaire, Instituut Born-Bunge, Universiteit Antwerpen = University of Antwerpen [Antwerpen], Department of Pediatrics, University Children's Hospital, Service de génétique [Rouen], Department of Neurology, Academic Medical Centre, Clinical Genetics, VU University Medical Center [Amsterdam], Association Française contre les Myopathies, Agence Nationale de la Recherche, Programme Hospitalier de Recherche Clinique du Centre Hospitalier Universitaire de Grenoble, Fondation Daniel Ducoin., Roux-Buisson, Nathalie, Universiteit Antwerpen, Faculteit Medische Wetenschappen/UMCG, ANS - Amsterdam Neuroscience, Neurology, Grenoble Institut des Neurosciences ( GIN ), Université Joseph Fourier - Grenoble 1 ( UJF ) -CHU Grenoble-Institut National de la Santé et de la Recherche Médicale ( INSERM ), CHU Nice, AP-HP Hôpital Raymond Poincaré [Garches], Université Pierre et Marie Curie - Paris 6 ( UPMC ) -IFR14-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service d'Anatomie et Cytologie Pathologique [Rouen], CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), University Medical Center
المصدر: Human Mutation, 29, 5, pp. 670-8
Human Mutation, 29, 670-8
Human Mutation
Human Mutation, 2008, 29 (5), pp.670-8. ⟨10.1002/humu.20696⟩
Human Mutation, Wiley, 2008, 29 (5), pp.670-8. ⟨10.1002/humu.20696⟩
Human Mutation, 29(5), 670-678. Wiley
Human mutation, 29(5), 670-678. Wiley-Liss Inc.
Human mutation
Human Mutation, Wiley, 2008, 29 (5), pp.670-8. 〈10.1002/humu.20696〉مصطلحات موضوعية: Male, CA2+ RELEASE CHANNEL, PHENOTYPE, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease_cause, MESH: Ryanodine Receptor Calcium Release Channel, Exon, MULTI-MINICORE DISEASE, 0302 clinical medicine, DOMAIN, RYR1, Missense mutation, MESH : Female, MESH: Gene Silencing, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, MESH : Muscular Diseases, Genetics (clinical), MESH : Ryanodine Receptor Calcium Release Channel, Genetics, 0303 health sciences, Mutation, Malignant hyperthermia, MUSCLE, DYSTROPHY, musculoskeletal system, Null allele, Pedigree, 3. Good health, MALIGNANT HYPERTHERMIA, recessive core myopathies, Mitochondrial medicine [IGMD 8], Female, MESH : Mutation, MESSENGER-RNA, tissues, MESH: Mutation, MESH: Pedigree, MESH : Male, Genes, Recessive, [ SDV.BBM.BM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, REGION, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Muscular Diseases, MESH : Gene Silencing, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Gene Silencing, Allele, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Gene, MESH: Genes, Recessive, CCD, 030304 developmental biology, MESH: Humans, MESH : Humans, MESH: Muscular Diseases, MESH : Genes, Recessive, Ryanodine Receptor Calcium Release Channel, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Glycostation disorders [IGMD 4], medicine.disease, GENE, Molecular biology, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetic defects of metabolism [UMCN 5.1], MESH : Pedigree, amorphic mutations, Cellular energy metabolism [UMCN 5.3], MESH: Female, 030217 neurology & neurosurgery, MmD
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https://hdl.handle.net/2066/71222Test -
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المؤلفون: J. van Reeuwijk, L. De Meirleir, J Ranells, G Gillessen Kaesbach, Maciej Adamowicz, Emmanuelle Lemyre, I Salafsky, Jolanta Sykut-Cegielska, Eva Morava, Han G. Brunner, Peter Meinecke, Zsolt Urban, Ron A. Wevers, Dirk J. Lefeber
المساهمون: Pediatrics
المصدر: European Journal of Human Genetics, 16, 1, pp. 28-35
European Journal of Human Genetics, 16, 28-35مصطلحات موضوعية: Male, Systemic disease, medicine.medical_specialty, Pathology, cutis laxa syndrome, Glycosylation, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Hearing loss, Central nervous system, Genes, Recessive, Biology, Neuroinformatics [DCN 3], Cutis Laxa, Genomic disorders and inherited multi-system disorders [IGMD 3], Internal medicine, Genetics, medicine, Perception and Action [DCN 1], Humans, Abnormalities, Multiple, isoelectric focusing, Child, Genetics (clinical), Genetic heterogeneity, Infant, Syndrome, Glycostation disorders [IGMD 4], medicine.disease, Phenotype, Neuromuscular development and genetic disorders [UMCN 3.1], Pedigree, Endocrinology, medicine.anatomical_structure, Palpebral fissure, Mitochondrial medicine [IGMD 8], Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Female, glycosylation defect, medicine.symptom, Congenital disorder of glycosylation, Metabolism, Inborn Errors, Cutis laxa, Immunity, infection and tissue repair [NCMLS 1]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54df43fb286e2c958ad3929c16252d9Test
https://hdl.handle.net/20.500.14017/77a97e3e-58b3-4672-8827-9b29485f396eTest -
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المؤلفون: Dirk Lefeber, Jolanta Sykut-Cegielska, Ron A. Wevers, Esther P A H Hoppenreijs, Eva Morava, Rob C.A. Sengers, Gerben Truin, Maïlys Guillard, Maciej Adamowicz
المصدر: Molecular Genetics and Metabolism, 94, 481-4
Molecular Genetics and Metabolism, 94, 4, pp. 481-4مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Glycosylation, Energy and redox metabolism [NCMLS 4], Endocrinology, Diabetes and Metabolism, Neuroinformatics [DCN 3], Biochemistry, Pericardial effusion, Pericardial Effusion, Genomic disorders and inherited multi-system disorders [IGMD 3], Endocrinology, Fatal Outcome, Internal medicine, Ascites, Genetics, medicine, Perception and Action [DCN 1], Ascitic Fluid, Humans, Decompensation, Molecular Biology, Abdominal Fluid, business.industry, Albumin, Transferrin, Pericardial fluid, Infant, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Transport protein, Mitochondrial medicine [IGMD 8], Genetic defects of metabolism [UMCN 5.1], Phosphotransferases (Phosphomutases), Cytokines, Female, Microbial pathogenesis and host defense [UMCN 4.1], medicine.symptom, business, Congenital disorder of glycosylation, Metabolism, Inborn Errors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0fa41305a8e88a85403452195c1a4d7Test
http://hdl.handle.net/2066/71524Test -
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المؤلفون: Saskia Koene, Eva Morava, Leo A. J. Kluijtmans, Donald M. Mock, Marcel C. Pasch, Ron A. Wevers
المصدر: Clinical Dysmorphology, 17, 3, pp. 195-8
Clinical Dysmorphology, 17, 195-8مصطلحات موضوعية: Progeroid appearance, Pathology, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Developmental Disabilities, Glycine, Biotin, Audiology, Neuroinformatics [DCN 3], Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Ectoderm, medicine, Perception and Action [DCN 1], Humans, Abnormalities, Multiple, Growth Disorders, Genetics (clinical), Chronic inflammation and autoimmunity [UMCN 4.2], business.industry, 3-Methylcrotonylglycinuria, Aging, Premature, General Medicine, Glycostation disorders [IGMD 4], Neuromuscular development and genetic disorders [UMCN 3.1], Pathogenesis and modulation of inflammation [N4i 1], Mitochondrial medicine [IGMD 8], chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Anatomy, Growth delay, business, Cellular energy metabolism [UMCN 5.3], Metabolism, Inborn Errors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d47a61a4ca9da034c87759d55c2c2436Test
https://hdl.handle.net/2066/70226Test -
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المؤلفون: E. Reynders, Dirk Lefeber, Birgit Budde, Marie T. Greally, Anna Rajab, Eva Seemanova, Memmune Yuksel-Apak, Gert Matthijs, Elisa Leão-Teles, Eva Morava, Laura Vilarinho, William B. Dobyns, Lina Basel-Vanagaite, Jeroen van Reeuwijk, Arti Nanda, Marc Larregue, Lionel Van Maldergem, Zsolt Urban, Ron A. Wevers, Jacqueline Vigneron, Han G. Brunner, Dulce Quelhas, Hans van Bokhoven, Sanda Giurgea, Wim Annaert, Martina Simandlova, Stefan Mundlos, Peter Nürnberg, Aikaterini Dimopoulou, Mustafa A. Salih, François Foulquier, Hülya Kayserili, Bjoern Fischer, Stephanie Gruenewald, Uwe Kornak
المصدر: Nature Genetics, 40, 1, pp. 32-4
Nature Genetics, 40, 32-4مصطلحات موضوعية: Male, Glycosylation, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Golgi Apparatus, Biology, Neuroinformatics [DCN 3], medicine.disease_cause, Gerodermia osteodysplastica, Cutis Laxa, Abnormal glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, symbols.namesake, Genetics, medicine, Perception and Action [DCN 1], Humans, Mutation, Infant, Golgi apparatus, Glycostation disorders [IGMD 4], medicine.disease, Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Proton-Translocating ATPases, Mitochondrial medicine [IGMD 8], chemistry, Biochemistry, Genetic defects of metabolism [UMCN 5.1], symbols, De Barsy syndrome, Female, Functional Neurogenomics [DCN 2], Wrinkly skin syndrome, Cutis laxa, Immunity, infection and tissue repair [NCMLS 1]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0984520a74a1ec60520952e911f0a51Test
https://hdl.handle.net/2066/69837Test -
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المؤلفون: Lambert P. van den Heuvel, Renske Raaijmakers, Johannes L. Willems, Elisabeth A.M. Cornelissen, Leo A. H. Monnens, Jolein Gloerich, Cornelis H. Schröder, Hans J. C. T. Wessels, Wendy Pluk
المصدر: Nephrology, Dialysis, Transplantation, 23, 2402-5
Nephrology, Dialysis, Transplantation, 23, 7, pp. 2402-5مصطلحات موضوعية: Male, Proteomics, Pathology, medicine.medical_specialty, Proteome, Energy and redox metabolism [NCMLS 4], medicine.medical_treatment, Tandem mass spectrometry, Peritoneal dialysis, Genomic disorders and inherited multi-system disorders [IGMD 3], Tandem Mass Spectrometry, Translational research [ONCOL 3], medicine, Ascitic Fluid, Humans, Child, Renal disorder [IGMD 9], Transplantation, Proteomic Profiling, business.industry, Peritoneal fluid, Infant, Glycostation disorders [IGMD 4], Trypsin, Blood proteins, Renal disorders [UMCN 5.4], Mitochondrial medicine [IGMD 8], Biochemistry, Nephrology, Child, Preschool, Female, business, Peritoneal Dialysis, Chromatography, Liquid, medicine.drug
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8bf4449bdb45665075dc2b43cd08583Test
http://hdl.handle.net/2066/71301Test -
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المؤلفون: Marcel M. Verbeek, Ron A. Wevers, Michèl A.A.P. Willemsen, Nico G.G.M. Abeling, Beat Thöny, Nenad Blau, Aart J. Lagerwerf, Dimitrios I. Zafeiriou, Euthymia Vargiami
المساهمون: University of Zurich, Verbeek, M M, Laboratory Genetic Metabolic Diseases
المصدر: Molecular Genetics and Metabolism, 94, 403-9
Molecular genetics and metabolism, 94(4), 403-409. Academic Press Inc.
Molecular Genetics and Metabolism, 94, 4, pp. 403-9مصطلحات موضوعية: 1303 Biochemistry, Endocrinology, Diabetes and Metabolism, Neuroinformatics [DCN 3], Biochemistry, chemistry.chemical_compound, Endocrinology, Perception and Action [DCN 1], Neurotransmitter metabolism, Sepiapterin reductase, Child, Neurotransmitter Agents, Greece, Homovanillic acid, Neopterin, Tetrahydrobiopterin, Hydroxyindoleacetic Acid, 1310 Endocrinology, 2712 Endocrinology, Diabetes and Metabolism, Female, medicine.drug, Sepiapterin, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Biopterin, 610 Medicine & health, Biology, Cognitive neurosciences [UMCN 3.2], 1311 Genetics, Internal medicine, Genetics, medicine, 1312 Molecular Biology, Humans, Alzheimer Centre [NCEBP 11], Molecular Biology, Siblings, Homovanillic Acid, Glycostation disorders [IGMD 4], Fibroblasts, Neuromuscular development and genetic disorders [UMCN 3.1], Biosynthetic Pathways, Pterins, Alcohol Oxidoreductases, Sepiapterin reductase deficiency, chemistry, Genetic defects of metabolism [UMCN 5.1], 10036 Medical Clinic, Mutation, Metabolism, Inborn Errors
وصف الملف: application/pdf
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http://hdl.handle.net/2066/70559Test