-
1
المؤلفون: Brian H. Robinson, Ronit Mesterman, Mark A. Tarnopolsky, Jan A.M. Smeitink, Samantha E. Marin, Richard J. Rodenburg
المصدر: Gene, 516, 162-7
Gene, 516, 1, pp. 162-7مصطلحات موضوعية: Male, Heterozygote, Mitochondrial DNA, Mitochondrial Diseases, Mitochondrial disease, Respiratory chain, NDUFV1, Biology, Compound heterozygosity, medicine.disease_cause, Frameshift mutation, Electron Transport, Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics, medicine, Humans, Mutation, Electron Transport Complex I, NDUFS2, Homozygote, Infant, Mitochondrial medicine Energy and redox metabolism [IGMD 8], NADH Dehydrogenase, General Medicine, medicine.disease, Phenotype, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, Leigh Disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba9ef7afa44a1b6883d94315e3215e9Test
https://doi.org/10.1016/j.gene.2012.12.024Test -
2Testicular Failure in Boys with Prader-Willi Syndrome: Longitudinal Studies of Reproductive Hormones
المؤلفون: Elbrich P. C. Siemensma, Roderick F. A. de Lind van Wijngaarden, Frank H. de Jong, Barto J. Otten, Anita C. S. Hokken-Koelega
المساهمون: Pediatrics, Internal Medicine
المصدر: Journal of Clinical Endocrinology and Metabolism, 97, E452-9
Journal of Clinical Endocrinology and Metabolism, 97, 3, pp. E452-9
Journal of Clinical Endocrinology and Metabolism, 97(3), E452-E459. Endocrine Societyمصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), Biochemistry, Endocrinology, Hypogonadotropic hypogonadism, Internal medicine, Prepuberty, Testis, medicine, Humans, Inhibins, Testosterone, Longitudinal Studies, Young adult, Child, business.industry, Hormonal regulation [IGMD 6], Puberty, Biochemistry (medical), Age Factors, Infant, nutritional and metabolic diseases, Luteinizing Hormone, medicine.disease, Pathophysiology, nervous system diseases, Mitochondrial medicine [IGMD 8], Child, Preschool, Follicle Stimulating Hormone, business, Prader-Willi Syndrome, hormones, hormone substitutes, and hormone antagonists, Cohort study, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6720f6d40a3d7594ff381fe977344097Test
https://doi.org/10.1210/jc.2011-1954Test -
3
المؤلفون: Justyna Paprocka, Eva Morava, Lambert P. van den Heuvel, Ron A. Wevers, Christian Thiel, Maciej Adamowicz, Ewa Jamroz, Joris A. Veltman, Richard J. Rodenburg, Sharitakoemari Timal, Christian Gilissen, Francjan J. van Spronsen, Karin Huijben, Jolanta Sykut-Cegielska, Ilse Eidhof, Ludwig Lehle, Alexander Hoischen, Christian Körner, Dirk Lefeber
المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Human Molecular Genetics, 21, 19, pp. 4151-61
Human Molecular Genetics, 21, 4151-61
Human Molecular Genetics, 21(19), 4151-4161. Oxford University Pressمصطلحات موضوعية: Male, Candidate gene, Glycosylation, Aetiology, screening and detection [ONCOL 5], Compound heterozygosity, medicine.disease_cause, SERUM, Cohort Studies, TRANSFERASE, Congenital Disorders of Glycosylation, Exome, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, DPAGT1, General Medicine, Disease gene identification, Pedigree, DEFICIENCY, DOLICHOL, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, STEPS, ENZYMES, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Molecular Sequence Data, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, medicine, Humans, YEAST, BIOSYNTHESIS, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, Gene, DCN NN - Brain networks and neuronal communication, Genome, Human, MUTATIONS, Infant, Proteins, Sequence Analysis, DNA, Glycostation disorders [IGMD 4], CDG, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9da8dfe4b5f3208627f62c6929d6debTest
https://hdl.handle.net/2066/107982Test -
4
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 SASمصطلحات 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 -
5
المؤلفون: Barto J. Otten, Joop S.E. Laven, Anita C. S. Hokken-Koelega, Elbrich P. C. Siemensma, A. A. E. M. (Janielle) van Alfen-van der Velden
المساهمون: Psychiatry, Obstetrics & Gynecology, Pediatrics
المصدر: Journal of Clinical Endocrinology and Metabolism, 97, 9, pp. E1766-73
Journal of Clinical Endocrinology and Metabolism, 97(9), E1766-E1773. Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 97, E1766-73مصطلحات موضوعية: Anti-Mullerian Hormone, Aging, Longitudinal study, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biochemistry, Cohort Studies, Endocrinology, Longitudinal Studies, Young adult, Child, Ovarian Function Tests, media_common, Estradiol, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, Prader-Willi Syndrome, hormones, hormone substitutes, and hormone antagonists, Cohort study, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, Adolescent, media_common.quotation_subject, Enzyme-Linked Immunosorbent Assay, Context (language use), Fertility, Young Adult, Hypogonadotropic hypogonadism, Internal medicine, medicine, Humans, Inhibins, business.industry, Ovary, Puberty, Hormonal regulation [IGMD 6], Biochemistry (medical), Infant, nutritional and metabolic diseases, Estrogens, Luteinizing Hormone, medicine.disease, nervous system diseases, Etiology, Follicle Stimulating Hormone, business, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579b2965546b434c78b08d509a576790Test
https://doi.org/10.1210/jc.2012-1595Test -
6
المؤلفون: Nike M. M. L. Stikkelbroeck, Ad R. M. M. Hermus, H.L. Claahsen-van der Grinten, Barto J. Otten
المصدر: Pharmacology and Therapeutics. Part A: Chemotherapy, Toxicology and Metabolic Inhibitors, 132, 1-14
Pharmacology and Therapeutics. Part A: Chemotherapy, Toxicology and Metabolic Inhibitors, 132, 1, pp. 1-14مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Bone density, media_common.quotation_subject, Fertility, Androgen Excess, Drug Administration Schedule, Pharmacologic intervention, Pregnancy, Internal medicine, Humans, Medicine, Pharmacology (medical), Congenital adrenal hyperplasia, Child, Glucocorticoids, media_common, Pharmacology, Adrenal Hyperplasia, Congenital, business.industry, Virilization, Hormonal regulation [IGMD 6], Age Factors, Infant, medicine.disease, Circadian Rhythm, Mitochondrial medicine [IGMD 8], Endocrinology, Therapeutic Equivalency, Fludrocortisone, Female, medicine.symptom, business, Glucocorticoid, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a78e6575aa44e0fe84ec7457bc4067c7Test
https://doi.org/10.1016/j.pharmthera.2011.05.004Test -
7
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. 138-44مصطلحات 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 -
8
المؤلفون: Leonie A. Menke, Theo C J Sas, Gladys R J Zandwijken, Maria A. J. de Ridder, Sophie van Koningsbrugge, Bart Boersma, Jan M. Wit, Sabine M.P.F. de Muinck Keizer-Schrama, Dejonckere Ph, Barto J. Otten
المساهمون: Pediatrics, Epidemiology, General Paediatrics, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development
المصدر: Journal of Voice, 25, 602-10
Journal of Voice, 25(5), 602-610. Mosby Inc.
Journal of Voice, 25(5), 602-610
Journal of Voice, 25, 5, pp. 602-10
Journal of voice, 25(5), 602-610. Mosby Inc.مصطلحات موضوعية: VOICE DEEPENING, medicine.medical_specialty, Adolescent, Hormone Replacement Therapy, Voice Quality, Growth hormone therapy, Turner syndrome, Growth hormone, Placebo, Oxandrolone, Speech and Hearing, Anabolic Agents, Internal medicine, medicine, Humans, Estrogen replacement therapy, Child, Normal range, Growth Disorders, Dose-Response Relationship, Drug, Human Growth Hormone, Follow up studies, Infant, Estrogens, LPN and LVN, medicine.disease, Mitochondrial medicine [IGMD 8], Endocrinology, Otorhinolaryngology, Child, Preschool, Voice, Voice frequency, Female, Psychology, medicine.drug, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0f47815bec27b4c142971dee94f2bfTest
https://hdl.handle.net/2066/98423Test -
9
المؤلفون: A.A.E.M. Alfen-van der Velden, Henricus G. X. M. Thomeer, Henri J L M Timmers, Cor W. R. J. Cremers, Ronald J.E. Pennings, Patrick L. M. Huygen, Barto J. Otten, K. Freriks, Henricus P. M. Kunst, Eva J J Verver
المصدر: Hearing Research, 275, 1-2, pp. 81-8
Hearing Research, 275, 81-8مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Monosomy, Adolescent, Hearing loss, Isochromosome, Aneuploidy, Turner Syndrome, Biology, Audiology, Genomic disorders and inherited multi-system disorders [IGMD 3], Audiometry, Hearing, Turner syndrome, medicine, Perception and Action [DCN 1], otorhinolaryngologic diseases, Humans, Medical history, Child, Ear Diseases, Hearing Disorders, Chromosomes, Human, X, Mosaicism, Hormonal regulation [IGMD 6], Cholesteatoma, Infant, Retrospective cohort study, medicine.disease, Sensory Systems, Isochromosomes, Mitochondrial medicine [IGMD 8], Child, Preschool, Karyotyping, Female, medicine.symptom, Functional Neurogenomics [DCN 2], Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73d07e7434f6f26a953a530d5a735196Test
https://doi.org/10.1016/j.heares.2010.12.007Test -
10
المؤلفون: Georg F. Hoffmann, Marjo S. van der Knaap, G.C.H. Steenbergen-Spanjers, Alec Aeby, Johannis B.C. de Klerk, Marcel M. Verbeek, Jan A.M. Smeitink, Fernando Kok, Vincenzo Leuzzi, B. Geurtz, Monique M. Ryan, Frits A. Wijburg, Pierre Rondot, Bridget Wilcken, André Mégarbané, Willy O. Renier, Jürgen Seeger, Pascale de Lonlay, Erik-Jan Kamsteeg, Bernhard Weschke, Hugh Monaghan, Michèl A.A.P. Willemsen, Evangeline Wassmer, Dimitrios I. Zafeiriou, Maria Anna Donati, Ron A. Wevers, Johanneke F. de Rijk-van Andel, Nenad Blau, Martin Haeussler, Alberto Burlina, Padraic Grattan-Smith, Hans H. Jung
المساهمون: Neuroscience Campus Amsterdam - Childhood White Matter Diseases, Pediatric surgery, NCA - Childhood White Matter Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases, University of Zurich
المصدر: Brain, 133, 1810-1822. Oxford University Press
Willemsen, M A, Verbeek, M M, Kamsteeg, E J, de Rijk-van Andel, J, Aeby, A, Blau, N, Burlina, A, Donati, M A, Geurtz, B, Grattan-Smith, P J, Haeussler, M, Hoffmann, G F, Jung, H, de Klerk, J B, van der Knaap, M S, Kok, F, Leuzzi, V, de Lonlay, P, Megarbane, A, Monaghan, H, Renier, W O, Rondot, P, Ryan, M M, Seeger, J, Smeitink, J A, Steenbergen-Spanjers, G C, Wassmer, E, Weschke, B, Wijburg, F A, Wilcken, B, Zafeiriou, D I & Wevers, R A 2010, ' Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis ', Brain, vol. 133, pp. 1810-1822 . https://doi.org/10.1093/brain/awq087Test
Brain, 133(Part 6), 1810-1822. Oxford University Press
Brain, 133, 1810-22
Brain, 133, Pt 6, pp. 1810-22مصطلحات موضوعية: medicine.medical_specialty, Tyrosine 3-Monooxygenase, Dopamine Agents, Encephalopathy, Mutation, Missense, 610 Medicine & health, Hypokinesia, Biology, medicine.disease_cause, Severity of Illness Index, Genomic disorders and inherited multi-system disorders [IGMD 3], Levodopa, chemistry.chemical_compound, Catecholamines, Cerebrospinal fluid, Internal medicine, medicine, Humans, Missense mutation, Age of Onset, Promoter Regions, Genetic, Amino Acid Metabolism, Inborn Errors, Dystonia, Brain Diseases, Mutation, Tyrosine hydroxylase, Homovanillic acid, Brain, Infant, Homovanillic Acid, Hydroxyindoleacetic Acid, medicine.disease, 10040 Clinic for Neurology, Muscle Rigidity, Mitochondrial medicine [IGMD 8], 2728 Neurology (clinical), Phenotype, Endocrinology, chemistry, 10036 Medical Clinic, 10076 Center for Integrative Human Physiology, Child, Preschool, cerebrospinal fluid, dystonia, l-dopa, neurotransmitters, tyrosine hydroxylase, Disease Progression, Catecholamine, 570 Life sciences, biology, Neurology (clinical), Functional Neurogenomics [DCN 2], medicine.drug
وصف الملف: Willemsen_Blau_Brain_10.pdf - application/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b2fc909acb2bec8118695477fd8172Test
https://doi.org/10.1093/brain/awq087Test
