অনুসন্ধান ফলাফলগুলি - Marjan M. Weiss
- প্রদর্শন 1 - 20 ফলাফল এর 38
- পরবর্তী পৃষ্ঠায় যান
-
1
-
2
Genomic Alterations in Primary Gastric Adenocarcinomas Correlate with Clinicopathological Characteristics and Survival অনুযায়ী Marjan M. Weiss, Ernst J. Kuipers, Cindy Postma, Antoine M. Snijders, Daniel Pinkel, S.G.M. Meuwissen, Donna G. Albertson, Gerrit A. Meijer
প্রকাশিত 2004Artigo -
3
-
4
-
5
Comparing methods for fetal fraction determination and quality control of NIPT samples অনুযায়ী Daphne M. van Beek, Roy Straver, Marjan M. Weiss, Elles M. J. Boon, Karin Huijsdens–van Amsterdam, Cees B.M. Oudejans, Marcel J. T. Reinders, Erik A. Sistermans
প্রকাশিত 2017Artigo -
6
Erratum: Guidelines for diagnostic next-generation sequencing অনুযায়ী Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer
প্রকাশিত 2016Errata/Corrigenda -
7
Guidelines for diagnostic next-generation sequencing অনুযায়ী Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer
প্রকাশিত 2015Artigo -
8
Colorectal adenoma to carcinoma progression follows multiple pathways of chromosomal instability অনুযায়ী Mario Hermsen, Cindy Postma, Jan P. Baak, Marjan M. Weiss, Anna Rapallo, Andrea Sciutto, Guido M.J.M. Roemen, Jan‐Willem Arends, Richard D. Williams, Walter Giaretti, A. de Goeij, Gerrit A. Meijer
প্রকাশিত 2002Artigo -
9
Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women অনুযায়ী Ellis C. Becking, P Scheffer, Jens Henrichs, Caroline J. Bax, Neeltje Crombag, Marjan M. Weiss, Merryn Macville, Diane Van Opstal, Elles M. J. Boon, Erik A. Sistermans, Lidewij Henneman, Ewoud Schuit, Mireille N. Bekker
প্রকাশিত 2023Artigo -
10
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation অনুযায়ী Xiaoyan Ge, Henry Gong, Kevin Dumas, Jessica Litwin, Joanna J. Phillips, Quinten Waisfisz, Marjan M. Weiss, Yvonne Hendriks, Kyra E. Stuurman, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Pui‐Yan Kwok, Joseph T.C. Shieh
প্রকাশিত 2016Artigo -
11
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma অনুযায়ী Jean‐Pierre Bayley, Ivonne van Minderhout, Marjan M. Weiss, Jeroen C. Jansen, P. H. N. Oomen, Fred H. Menko, Barbara Pasini, Barbara Ferrando, Nora Wong, Lesley Alpert, Rosie S. Williams, Edward Blair, Peter Devilee, Peter E.M. Taschner
প্রকাশিত 2006Artigo -
12
Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories অনুযায়ী Marjan M. Weiss, Bert van der Zwaag, Jan D.H. Jongbloed, Maartje J. Vogel, Hennie T. Brüggenwirth, Ronald H. Lekanne Deprez, Olaf R.F. Mook, Claudia Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel Nelen, Nienke van der Stoep
প্রকাশিত 2013Revisão -
13
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence অনুযায়ী Maria B. Tan-Sindhunata, Inge B. Mathijssen, Margriet Smit, Frank Baas, Johanna I. de Vries, J. Patrick van der Voorn, Irma Kluijt, Marleen A. Hagen, Eveline W Blom, Erik A. Sistermans, Hanne Meijers‐Heijboer, Quinten Waisfisz, Marjan M. Weiss, Alexander J. Groffen
প্রকাশিত 2014Artigo -
14
<i>SMAD2</i>Mutations Are Associated with Arterial Aneurysms and Dissections অনুযায়ী Dimitra Micha, Dongchuan Guo, Yvonne Hilhorst‐Hofstee, Fop van Kooten, Dian Atmaja, Eline Overwater, Ferdy Kurniawan Cayami, Ellen S. Regalado, R. Van Uffelen, Hanka Venselaar, Sultana MH Faradz, Gerrit Vriend, Marjan M. Weiss, Erik A. Sistermans, Alessandra Maugeri, Dianna M. Milewicz, Gerard Pals, Fleur S van Dijk
প্রকাশিত 2015Artigo -
15
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family অনুযায়ী Frederik J. Hes, Marjan M. Weiss, Sanne A Woortman, Noel F.C.C. de Miranda, Patrick A van Bunderen, Bert A. Bonsing, Marcel P. M. Stokkel, Hans Morreau, Johannes A. Romijn, Jeroen C. Jansen, A. H. J. T. Vriends, Jean‐Pierre Bayley, Eleonora P.M. Corssmit
প্রকাশিত 2010Artigo -
16
HiFi long-read genomes for difficult-to-detect, clinically relevant variants অনুযায়ী Wolfram Höps, Marjan M. Weiss, Ronny Derks, Jordi Corominas Galbany, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Jos G.A. Smits, Tom Mokveld, Egor Dolzhenko, Xiao Chen, Arthur van den Wijngaard, Michael A. Eberle, Helger G. Yntema, Alexander Hoischen, Christian Gilissen, Lisenka E.L.M. Vissers
প্রকাশিত 2025Artigo -
17
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures অনুযায়ী Susanne Horn, Margaret Au, Lina Basel‐Vanagaite, Pınar Bayrak‐Toydemir, Alexander Chapin, Lior Cohen, Mariet W. Elting, John M. Graham, Claudia Gonzaga‐Jauregui, Osnat Konen, Max Holzer, Johannes R. Lemke, Christine E. Miller, Linda K. Rey, Nicole I. Wolf, Marjan M. Weiss, Quinten Waisfisz, Ghayda Mirzaa, Dagmar Wieczorek, Heinrich Sticht, Rami Abou Jamra
প্রকাশিত 2019Artigo -
18
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy অনুযায়ী Henne Holstege, Sven J. van der Lee, Marc Hulsman, Tsz Hang Wong, Jeroen van Rooij, Marjan M. Weiss, Eva Louwersheimer, Frank J. Wolters, Najaf Amin, André G. Uitterlinden, Albert Hofman, M. Arfan Ikram, John C. van Swieten, Hanne Meijers‐Heijboer, Wiesje M. van der Flier, Marcel J. T. Reinders, Cornelia M. van Duijn, Philip Scheltens
প্রকাশিত 2017Artigo -
19
Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer অনুযায়ী Lisa S.M. Hofste, Maartje J. Geerlings, Daniel von Rhein, Heidi Rütten, A. Helen Westenberg, Marjan M. Weiss, Christian Gilissen, Tom Hofste, Rachel S. van der Post, Bastiaan Klarenbeek, Johannes H.W. de Wilt, Marjolijn J. L. Ligtenberg, Linda M. Garms, Maite Liem, Tom Rozema, Dareczka K. Wasowicz, Pim Burger, Fatih Polat, Koen Reijnders, Marnix de Roos, Colin Sietses
প্রকাশিত 2023Artigo -
20
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders অনুযায়ী Eline Overwater, Luisa Marsili, Marieke J.H. Baars, Annette F. Baas, Irma van de Beek, Eelco Dulfer, Johanna M. van Hagen, Yvonne Hilhorst‐Hofstee, Marlies Kempers, Ingrid P.C. Krapels, Leonie A. Menke, Judith M.A. Verhagen, Kak Khee Yeung, Petra Zwijnenburg, Maarten Groenink, Peter van Rijn, Marjan M. Weiss, Els Voorhoeve, J. Peter van Tintelen, Arjan C. Houweling, Alessandra Maugeri
প্রকাশিত 2018Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Genetics
Gene
Medicine
Mutation
Computational biology
Genome
Computer science
Internal medicine
Phenotype
Fetus
Neuroscience
Pathology
Pregnancy
Bioinformatics
Disease
Genotype
DNA sequencing
Exome sequencing
Intellectual disability
Cancer
DNA
Genetic testing
Germline mutation
Missense mutation
Obstetrics
Prenatal diagnosis
Single-nucleotide polymorphism
Cancer research
Chemistry