يعرض 1 - 10 نتائج من 10 نتيجة بحث عن '"Ingrid van de Laar"', وقت الاستعلام: 1.40s تنقيح النتائج
  1. 1
    دورية أكاديمية
    RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

    المؤلفون: Jonathan Shintaku, Wolfgang M. Pernice, Wafaa Eyaid, Jeevan B. GC, Zuben P. Brown, Marti Juanola-Falgarona, Javier Torres-Torronteras, Ewen W. Sommerville, Debby M.E.I. Hellebrekers, Emma L. Blakely, Alan Donaldson, Ingrid van de Laar, Cheng-Shiun Leu, Ramon Marti, Joachim Frank, Kurenai Tanji, David A. Koolen, Richard J. Rodenburg, Patrick F. Chinnery, H.J.M. Smeets, Gráinne S. Gorman, Penelope E. Bonnen, Robert W. Taylor, Michio Hirano

    المصدر: The Journal of Clinical Investigation, Vol 132, Iss 13 (2022)

    مصطلحات موضوعية: Genetics, Medicine

    وصف الملف: electronic resource

    العلاقة: https://doaj.org/toc/1558-8238Test

    الوصول الحر: https://doaj.org/article/c33cc000db5c486fac28f774f3298015Test

    View record in DOAJ النص الكامل

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  2. 2
    دورية أكاديمية
    Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

    المؤلفون: Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid van de Laar, Marco Tartaglia, Bekim Sadikovic, Anne-Sophie Lebre

    المصدر: International Journal of Molecular Sciences, Vol 23, Iss 3, p 1815 (2022)

    مصطلحات موضوعية: epigenetics, DNA methylation, episignature, Wiedemann–Steiner syndrome, KMT2A gene, intellectual disability, Biology (General), QH301-705.5, Chemistry, QD1-999

    وصف الملف: electronic resource

    العلاقة: https://www.mdpi.com/1422-0067/23/3/1815Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

    الوصول الحر: https://doaj.org/article/a6bf93b9a5034f0c9761191d3399a9b9Test

    View record in DOAJ النص الكامل

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  3. 3
    De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome

    المؤلفون: Maike F. Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Smigiel, Alka Malhotra, Donald Basel, Ingrid van de Laar, Rinze Frederik Neuteboom, Coranne Aarts-Tesselaar, Sonal Mahida, Nicola Brunetti-Pierri, Ryan J. Taft, Stephan Züchner

    المساهمون: Dohrn, Maike F, Rebelo, Adriana P, Srivastava, Siddharth, Cappuccio, Gerarda, Smigiel, Robert, Malhotra, Alka, Basel, Donald, van de Laar, Ingrid, Neuteboom, Rinze Frederik, Aarts-Tesselaar, Coranne, Mahida, Sonal, Brunetti-Pierri, Nicola, Taft, Ryan J, Züchner, Stephan, Clinical Genetics, Neurology

    المصدر: Neurology, 98(11), 440-445. Lippincott Williams & Wilkins

    مصطلحات موضوعية: Phenotype, Intellectual Disability, Mutation, Migraine with Aura, Syndrome, Neurology (clinical), Sodium-Potassium-Exchanging ATPase, Human

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bb4e8077d58c5414fe73db2ba434859Test
    https://doi.org/10.1212/wnl.0000000000013276Test


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  4. 4
    High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

    المؤلفون: Hannie C. W. Douben, Mark Nellist, Leontine van Unen, Peter Elfferich, Esmee Kasteleijn, Marianne Hoogeveen‐Westerveld, Jesse Louwen, Monique van Veghel‐Plandsoen, Walter de Valk, Jasper J. Saris, Femke Hendriks, Esther Korpershoek, Lies H. Hoefsloot, Margreethe van Vliet, Yolande van Bever, Ingrid van de Laar, Emmelien Aten, Augusta M. A. Lachmeijer, Walter Taal, Lisa van den Bersselaar, Juliette Schuurmans, Rianne Oostenbrink, Rick van Minkelen, Yvette van Ierland, Tjakko J. van Ham

    المساهمون: Clinical Genetics, Erasmus MC other, Pathology, Neurology, Pediatrics

    المصدر: Human Mutation, 43(12), 2130-2140. Wiley-Liss Inc.
    Human Mutation: Variation, Informatics and Disease, 43(12), 2130-2140. WILEY-HINDAWI

    مصطلحات موضوعية: Neurofibromatosis 1, Neurofibromin 1, RNA Splicing, RNA-sequencing, DNA, Fibroblasts, mRNA splicing, neurofibromatosis type 1, molecular diagnostics, noncoding variants, Mutation, Genetics, Humans, Genetics (clinical), exon skipping

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3d626b36d5a4ec4586b987251a1250Test
    https://hdl.handle.net/1887/3563778Test


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  5. 5
    Poster No. 132 HTAD PATIENT PATHWAY: Strategy for diagnostic work-up of patients and families with (suspected) Heritable Thoracic Aortic Diseases (HTAD). A statement from the HTAD Working Group of VASCERN

    المؤلفون: Julie de Backer, Maryanne Caruana, Marieke Baars, Evi Bashiardes, Kalman Benke, Erik Bjorck, Andrei Codreanu, Elena de Moya Rubio, Julia Dumfarth, Arturo Evangelista, Maarten Groenink, Klaus Kallenbach, Marlies Kempers, Anna Keravnu, Bart Loeys, Laura Muino Mosquera, Edit Nagi, Stefano Nistri, Guglielmina Pepe, Jolien Roos Hesselink, Zoltan Szabolcs, Gisela Teixido, Janneke Timmermans, Ingrid Van de Laar, Roland Van Kimmenade, Aline Verstraeten, Yskert Von Kodolitsch, Guillaume Jondeau

    المصدر: Cardiovascular Research. 118

    مصطلحات موضوعية: Physiology, Physiology (medical), Cardiology and Cardiovascular Medicine

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::19c686331defb38d30262799cf3880e7Test
    https://doi.org/10.1093/cvr/cvac157.110Test


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  6. 6
    Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for

    المؤلفون: Aidin, Foroutan, Sadegheh, Haghshenas, Pratibha, Bhai, Michael A, Levy, Jennifer, Kerkhof, Haley, McConkey, Marcello, Niceta, Andrea, Ciolfi, Lucia, Pedace, Evelina, Miele, David, Genevieve, Solveig, Heide, Mariëlle, Alders, Giuseppe, Zampino, Giuseppe, Merla, Mélanie, Fradin, Eric, Bieth, Dominique, Bonneau, Klaus, Dieterich, Patricia, Fergelot, Elise, Schaefer, Laurence, Faivre, Antonio, Vitobello, Silvia, Maitz, Rita, Fischetto, Cristina, Gervasini, Maria, Piccione, Ingrid, van de Laar, Marco, Tartaglia, Bekim, Sadikovic, Anne-Sophie, Lebre

    المصدر: International journal of molecular sciences. 23(3)

    مصطلحات موضوعية: Craniofacial Abnormalities, Phenotype, Intellectual Disability, Hypertrichosis, Facies, Humans, Abnormalities, Multiple, DNA, Syndrome, DNA Methylation, Growth Disorders

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::93680a699ebc3d0f637780e246b9ab48Test
    https://pubmed.ncbi.nlm.nih.gov/35163737Test


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  7. 7
    De Novo

    المؤلفون: Maike F, Dohrn, Adriana P, Rebelo, Siddharth, Srivastava, Gerarda, Cappuccio, Robert, Smigiel, Alka, Malhotra, Donald, Basel, Ingrid, van de Laar, Rinze Frederik, Neuteboom, Coranne, Aarts-Tesselaar, Sonal, Mahida, Nicola, Brunetti-Pierri, Ryan J, Taft, Stephan, Züchner

    المصدر: Neurology

    مصطلحات موضوعية: Phenotype, Intellectual Disability, Migraine with Aura, Mutation, Clinical/Scientific Note, Humans, Syndrome, Sodium-Potassium-Exchanging ATPase

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::fc8b88f78f8bfaa82c69fc31cda08c37Test
    https://pubmed.ncbi.nlm.nih.gov/35110381Test


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  8. 8
    Cerebral oxygen saturation and electrical brain activity before, during, and up to 36 hours after arterial switch procedure in neonates without pre-existing brain damage: its relationship to neurodevelopmental outcome

    المؤلفون: Mona C. Toet, Jaap W. de Vries, Ingrid van de Laar, G. B. W. E. Bennink, Frank van Bel, Cuno S.P.M. Uiterwaal, A.E. Flinterman

    المصدر: Experimental brain research. 165(3)

    مصطلحات موضوعية: medicine.medical_specialty, Neurology, Transposition of Great Vessels, Hemodynamics, Cerebral oxygen saturation, Brain damage, Nervous System, law.invention, law, Hypothermia, Induced, medicine, Cardiopulmonary bypass, Humans, Ultrasonography, Brain Chemistry, Cardiopulmonary Bypass, Spectroscopy, Near-Infrared, medicine.diagnostic_test, business.industry, General Neuroscience, Infant, Newborn, Brain, Magnetic resonance imaging, Electroencephalography, Oxygenation, Hypothermia, Magnetic Resonance Imaging, Electric Stimulation, Electrophysiology, Oxygen, Treatment Outcome, Anesthesia, Cerebrovascular Circulation, Data Interpretation, Statistical, Heart Arrest, Induced, medicine.symptom, business, Follow-Up Studies

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c024300be2ec698be44408904bc4a3Test
    https://pubmed.ncbi.nlm.nih.gov/15940492Test


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  9. 9
    دورية أكاديمية
    Cardiac b-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies

    المؤلفون: Yvonne M Hoedemaekers, Kadir Caliskan, Danielle Majoor-Krakauer, Ingrid Van De Laar, Michelle Michels, Maarten Witsenburg, Folkert J Ten Cate, Maarten L Simoons, Dennis Dooijes

    المساهمون: The Pennsylvania State University CiteSeerX Archives

    المصدر: http://eurheartj.oxfordjournals.org/content/ehj/early/2007/10/17/eurheartj.ehm429.full.pdfTest.

    وصف الملف: application/pdf

    العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1035.2954Test; http://eurheartj.oxfordjournals.org/content/ehj/early/2007/10/17/eurheartj.ehm429.full.pdfTest

    الإتاحة: http://eurheartj.oxfordjournals.org/content/ehj/early/2007/10/17/eurheartj.ehm429.full.pdfTest

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  10. 10
    دورية أكاديمية
    Clinical research

    المؤلفون: Yvonne M. Hoedemaekers, Kadir Caliskan, Danielle Majoor-krakauer, Ingrid Van De Laar, Michelle Michels, Maarten Witsenburg, Folkert J. Ten Cate, Maarten L. Simoons

    المساهمون: The Pennsylvania State University CiteSeerX Archives

    المصدر: http://www.scmr.org/assets/files/caseoftheweek/Articles/2007Test Hoedemaekers EHJ Cardiac B myosin defects linking LVNC and HCM.pdf.

    وصف الملف: application/pdf

    العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.528.391Test; http://www.scmr.org/assets/files/caseoftheweek/Articles/2007Test Hoedemaekers EHJ Cardiac B myosin defects linking LVNC and HCM.pdf

    الإتاحة: http://www.scmr.org/assets/files/caseoftheweek/Articles/2007Test Hoedemaekers EHJ Cardiac B myosin defects linking LVNC and HCM.pdf

    View record in BASE

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