المؤلفون: C Vandenbogert, P Muus, Mjm Vangalen, Pa Bolhuis, Hl Dekker, Marijke Holtrop, H Devries, Jw Taanman

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1144:177-183

مصطلحات موضوعية: Cell Nucleus, DNA Replication, Mitochondrial DNA, Oxidase test, Cytochrome, Biophysics, Cell Biology, Biology, Biochemistry, Mitochondria, Electron Transport Complex IV, Gene Expression Regulation, Mitochondrial biogenesis, Transcription (biology), Gene expression, biology.protein, Humans, Cytochrome c oxidase, RNA, Messenger, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1308cc3bfc93d7c938ec772d53791b67
https://doi.org/10.1016/0005-2728(93)90170-k

المؤلفون: Da, Mackey, Roelof-Jan Oostra, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Ae, Harding, Govan G, Pa, Bolhuis, Norby S

المساهمون: Other departments

المصدر: American journal of human genetics, 59(2), 481-485. Cell Press
Europe PubMed Central

مصطلحات موضوعية: Male, Letter, Australia, White People, Pedigree, Europe, Optic Atrophies, Hereditary, Reference Values, Germany, Mutation, Humans, Family, Female, New Zealand

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::10490a7a0fe7f1d5519a29a185178ab8
https://pure.amc.nl/en/publications/primary-pathogenic-mtdna-mutations-in-multigeneration-pedigrees-with-leber-hereditary-optic-neuropathy(e78676ed-6a2e-4557-b447-cbf8c56e5dec).html

المؤلفون: H Devries, Nh Herzberg, Jw Taanman, C Vandenbogert, Pa Bolhuis

المصدر: Biochimica et biophysica acta. 1139(1-2)

مصطلحات موضوعية: Gene isoform, Adult, Male, Cytochrome, Transcription, Genetic, Protein subunit, Electron Transport Complex IV, RNA, Ribosomal, 16S, Cytochrome c oxidase, Humans, Northern blot, RNA, Messenger, Molecular Biology, Cells, Cultured, Adenosine Triphosphatases, biology, ATP synthase, Myogenesis, Muscles, Molecular biology, Mitochondria, Muscle, Isoenzymes, biology.protein, Molecular Medicine, Female, sense organs, ATP synthase alpha/beta subunits

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbb409451e8174fef97ba0f10a9169f6
https://pubmed.ncbi.nlm.nih.gov/1319212

المؤلفون: JJ Sixma, KS Sakariassen, NH Beeser-Visser, M Ottenhof-Rovers, PA Bolhuis

المصدر: Blood. 63(1)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Binding Sites, Factor VIII, Immunology, Cell Biology, Hematology, Chemical Fractionation, Biochemistry, Blood Coagulation Factors, Umbilical Arteries, Molecular Weight, Platelet Adhesiveness, Renal Artery, Ristocetin, hemic and lymphatic diseases, von Willebrand Factor, Chromatography, Gel, Humans, Endothelium, Antigens

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3251f6e7c92dd128120219ef0088db18
https://pubmed.ncbi.nlm.nih.gov/6418228

المؤلفون: Fa, Wijburg, van den Bogert C, de Visser M, Roelof-Jan Oostra, Pa, Bakker, Pa, Bolhuis

المصدر: Europe PubMed Central

مصطلحات موضوعية: Ophthalmoplegia, Chronic Progressive External, Mitochondrial Encephalomyopathies, Humans, Mitochondrial Myopathies, Point Mutation, RNA, Transfer, Lys, Genetic Counseling, DNA, Mitochondrial, MERRF Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2684999dae6b6cc4a492d70a9d47899b
http://europepmc.org/abstract/med/7617049

المؤلفون: Nh, Herzberg, Esther Middelkoop, Adorf M, Hl, Dekker, Mj, Galen, Van den Berg M, Pa, Bolhuis, Van den Bogert C

المصدر: Europe PubMed Central

مصطلحات موضوعية: Cell Nucleus, L-Lactate Dehydrogenase, Muscle Proteins, Citrate (si)-Synthase, DNA, Mitochondrial, beta-N-Acetylhexosaminidases, Mitochondria, Muscle, Electron Transport, Electron Transport Complex IV, Proton-Translocating ATPases, Oxygen Consumption, Gene Expression Regulation, Glutamate Dehydrogenase, Ethidium, Humans, DNA Damage

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::27cecbd24c1a502692b62dd73ed39e02
http://europepmc.org/abstract/med/8223726

المؤلفون: Roelof-Jan Oostra, Pa, Bolhuis, Fa, Wijburg, Em, Bleeker-Wagemakers

المصدر: Europe PubMed Central

مصطلحات موضوعية: Adult, Male, X Chromosome, Optic Atrophies, Hereditary, Genetic Carrier Screening, Humans, Point Mutation, Female, Middle Aged, DNA, Mitochondrial, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5ca084a3dae3d5c1996bf447724e1675
http://europepmc.org/abstract/med/7617050

المؤلفون: Jw Taanman, C Schrage, H Devries, N Ponne, E Agsteribbe, Pa Bolhuis

المصدر: Nucleic Acids Research, 17(4), 1766-1766. Oxford University Press

مصطلحات موضوعية: Genetics, Oxidase test, biology, Base Sequence, Macromolecular Substances, Protein subunit, Molecular Sequence Data, Nucleic acid sequence, Electron Transport Complex IV, DNA, Molecular biology, Mitochondria, Genes, Complementary DNA, Sequence Homology, Nucleic Acid, biology.protein, Cytochrome c oxidase, Animals, Humans, Cattle, Amino Acid Sequence, Peptide sequence, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e81814a17be66bbcca8f14fc36fd2c35
https://doi.org/10.1093/nar/17.4.1766

المؤلفون: Cornel MC; Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands. MC.Cornel@vumc.nl, Gille JJ, Loeber JG, Vernooij-van Langen AM, Dankert-Roelse J, Bolhuis PA

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2012 Jul; Vol. 35 (4), pp. 635-40.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Cystic Fibrosis/*diagnosis , Cystic Fibrosis/*genetics , Neonatal Screening/*methods, Cystic Fibrosis/prevention & control ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Genetic Testing/methods ; Humans ; Infant, Newborn ; Mass Screening/methods ; Mutation ; Netherlands ; Parents ; Pilot Projects ; Sensitivity and Specificity ; Sweat/chemistry

عنوان ترانسليتريتد: Het advies 'Neonatale screening' van de Gezondheidsraad.

المؤلفون: Bolhuis PA; Gezondheidsraad, Postbus 16.052, 2500 BB Den Haag. pa.bolhuis@gr.nl, Page-Christiaens GC

المصدر: Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2005 Dec 17; Vol. 149 (51), pp. 2857-60.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Vereniging NTvG Country of Publication: Netherlands NLM ID: 0400770 Publication Model: Print Cited Medium: Print ISSN: 0028-2162 (Print) Linking ISSN: 00282162 NLM ISO Abbreviation: Ned Tijdschr Geneeskd Subsets: MEDLINE

مواضيع طبية MeSH: Parents*/education , Parents*/psychology, Infant, Newborn, Diseases/*diagnosis , Neonatal Screening/*methods, Humans ; Infant, Newborn ; Netherlands ; Patient Education as Topic ; Practice Guidelines as Topic ; Treatment Outcome