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1Academic Journal
المؤلفون: Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, W., Frederix, Geert W.J., Vissers, L. E.L.M., Henneman, L., van Haelst, M. M., Sistermans, E. A., Cornel, M. C., Misra-Isrie, M., Mannens, M. M.A.M., Waisfisz, Q., van Hagen, J. M., Brooks, A. S., Barakat, T. S., Hoefsloot, E. H., van Lingen, R. A., Ruivenkamp, C. A.L., Koene, S., Rutten, J. W., de Koning, B., Stevens, S. J.C., van den Wijngaard, A., Stegmann, A. P.A., Deden, A. C., Rodenburg, W., Sinke, R. J., van der Velde, K. J., Frederix, G. W.J., Oegema, R.
المصدر: on behalf of RADICON-NL consortium , Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , ....
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/332deff0-c7c2-4a97-938a-ef7ebdefafe3
https://doi.org/10.1007/s00431-023-04909-1
https://pure.eur.nl/ws/files/90570361/Rapid_exome_sequencing_as_a_first_tier_test_in_neonates_with_suspected_genetic_disorder_results_of_a_prospective_multicenter_clinical_utility_study_in_the_Netherlands.pdf
http://www.scopus.com/inward/record.url?scp=85151442453&partnerID=8YFLogxK -
2Academic Journal
المؤلفون: Rraku, Eleana, Kerstjens-Frederikse, Wilhelmina S., Swertz, Morris A., Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M.A., Engwerda, Aafke
المصدر: Rraku , E , Kerstjens-Frederikse , W S , Swertz , M A , Dijkhuizen , T , van Ravenswaaij-Arts , C M A & Engwerda , A 2023 , ' The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review ' , Orphanet journal of rare diseases , vol. 18 , no. 1 , 68 . https://doi.org/10.1186/s13023-023-02670-0
مصطلحات موضوعية: Chromosome 6, Chromosome 6 project, FOXC1, Interstitial 6p25 deletion, Patient participation, Social media, Terminal 6p deletion
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Engwerda, Aafke, Frentz, Barbara, Rraku, Eleana, de Souza, Nadia F. Simoes, Swertz, Morris A., Plantinga, Mirjam, Kerstjens-Frederikse, Wilhelmina S., Ranchor, Adelita V., van Ravenswaaij-Arts, Conny M.A.
المصدر: Engwerda , A , Frentz , B , Rraku , E , de Souza , N F S , Swertz , M A , Plantinga , M , Kerstjens-Frederikse , W S , Ranchor , A V & van Ravenswaaij-Arts , C M A 2023 , ' Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire : data consistency and data availability ' , Orphanet journal of rare diseases , vol. 18 , no. 1 , 60 . https://doi.org/10.1186/s13023-023-02657-x
مصطلحات موضوعية: Chromosome 6, Digital health, Parent-reported phenotype, Patient participation, Rare disease, Self-phenotyping, Social media
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Engwerda, Aafke, Kerstjens-Frederikse, Wilhelmina S., Corsten-Janssen, Nicole, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M.A.
المصدر: Engwerda , A , Kerstjens-Frederikse , W S , Corsten-Janssen , N , Dijkhuizen , T & van Ravenswaaij-Arts , C M A 2023 , ' The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature : a prominent role for DLL1 ' , Orphanet journal of rare diseases , vol. 18 , no. 1 , 59 . https://doi.org/10.1186/s13023-023-02658-w
مصطلحات موضوعية: 6q26, 6q27, Chromosome 6, DLL1, Parent-reported phenotype, Patient participation, QKI, Social media, Terminal 6q deletion
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: Engwerda, Aafke, Abbott, Kristin M., Hitzert, Marrit M., van Ravenswaaij-Arts, Conny M.A., Kerstjens-Frederikse, Wilhelmina S.
المصدر: Engwerda , A , Abbott , K M , Hitzert , M M , van Ravenswaaij-Arts , C M A & Kerstjens-Frederikse , W S 2023 , ' The role of TBX18 in congenital heart defects in humans not confirmed ' , European Journal of Human Genetics , vol. 31 , pp. 138–141 . https://doi.org/10.1038/s41431-022-01242-3
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/082fc8b0-b1d5-4703-910a-2f5acba2fba9
https://research.rug.nl/en/publications/082fc8b0-b1d5-4703-910a-2f5acba2fba9
https://doi.org/10.1038/s41431-022-01242-3
https://pure.rug.nl/ws/files/258682530/The_role_of_TBX18_in_congenital_heart_defects_in_humans_not_confirmed.pdf -
6Academic Journal
المؤلفون: Prapa, Matina, Lago-Docampo, Mauro, Swietlik, Emilia M, Montani, David, Eyries, Mélanie, Humbert, Marc, Welch, Carrie L, Chung, Wendy K, Berger, Rolf M F, Bogaard, Harm Jan, Danhaive, Olivier, Escribano-SubÃas, Pilar, Gall, Henning, Girerd, Barbara, Hernandez-Gonzalez, Ignacio, Holden, Simon, Hunt, David, Jansen, Samara M A, Kerstjens-Frederikse, Wilhelmina, Kiely, David G, Lapunzina, Pablo, McDermott, John, Moledina, Shahin, Pepke-Zaba, Joanna, Polwarth, Gary J, Schotte, Gwen, Tenorio-Castaño, Jair, Thompson, A A Roger, Wharton, John, Wort, Stephen J, Megy, Karyn, Mapeta, Rutendo, Treacy, Carmen M, Martin, Jennifer M, Li, Wei, Swift, Andrew J, Upton, Paul D, Morrell, Nicholas W, Gräf, Stefan, Valverde, Diana, NIHR BioResource for Translational Research–Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, PAH Biobank Enrolling Centers’ Investigators
المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de néonatologie
المصدر: American journal of respiratory and critical care medicine, Vol. 206, no.12, p. 1522-1533 (2022)
مصطلحات موضوعية: Humans, Gain of Function Mutation, T-Box Domain Proteins, Bone Morphogenetic Protein Receptors, Type II, Phenotype, Lung Diseases, Mutation, Genotype, TBX4, gain-of-function, interstitial lung disease, lung developmental disease, pulmonary arterial hypertension
Relation: boreal:278235; http://hdl.handle.net/2078.1/278235; info:pmid/35852389; urn:ISSN:1073-449X; urn:EISSN:1535-4970
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7Academic Journal
المؤلفون: Skoric-Milosavljevic, Doris, Tadros, Rafik, Bosada, Fernanda M., Tessadori, Federico, van Weerd, Jan Hendrik, Woudstra, Odilia, Tjong, Fleur V. Y., Lahrouchi, Najim, Bajolle, Fanny, Cordell, Heather J., Agopian, A. J., Blue, Gillian M., Barge-Schaapveld, Daniela Q. C. M., Gewillig, Marc, Preuss, Christoph, Lodder, Elisabeth M., Barnett, Phil, Ilgun, Aho, Beekman, Leander, van Duijvenboden, Karel, Bokenkamp, Regina, Muller-Nurasyid, Martina, Vliegen, Hubert W., Konings, Thelma C., van Melle, Joost P., van Dijk, Arie P. J., van Kimmenade, Roland R. J., Roos-Hesselink, Jolien W., Sieswerda, Gertjan, Meijboom, Folkert, Abdul-Khaliq, Hashim, Berger, Felix, Dittrich, Sven, Hitz, Marc-Phillip, Moosmann, Julia, Riede, Frank-Thomas, Schubert, Stephan, Galan, Pilar, Lathrop, Mark, Munter, Hans Markus, Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Evans, Sylvia, Nobrega, Marcelo A., Aneas, Ivy, Kerstjens-Frederikse, Wilhelmina S.
المصدر: Skoric-Milosavljevic , D , Tadros , R , Bosada , F M , Tessadori , F , van Weerd , J H , Woudstra , O , Tjong , F V Y , Lahrouchi , N , Bajolle , F , Cordell , H J , Agopian , A J , Blue , G M , Barge-Schaapveld , D Q C M , Gewillig , M , Preuss , C , Lodder , E M , Barnett , P , Ilgun , A , Beekman , L , van Duijvenboden , K , Bokenkamp , R , Muller-Nurasyid , ....
مصطلحات موضوعية: congenital heart disease, genome-wide association study, single nucleotide polymorphism, transposition of great vessels, Wnt-5a protein, CONGENITAL HEART-DISEASE, GENOME-WIDE ASSOCIATION, HYPOPLASTIC LEFT-HEART, OF-FUNCTION MUTATIONS, WNT5A MUTATIONS, ZIC3 MUTATIONS, DE-NOVO, DEFECTS, MALFORMATIONS, HERITABILITY
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: Pagnamenta, Alistair T., Jackson, Adam, Perveen, Rahat, Beaman, Glenda, Petts, Gemma, Gupta, Asheeta, Hyder, Zerin, Chung, Brian Hon Yin, Kan, Anita Sik Yau, Cheung, Ka Wang, Kerstjens-Frederikse, Wilhelmina S., Abbott, Kristin M., Elpeleg, Orly, Taylor, Jenny C., Banka, Siddharth, Ta-Shma, Asaf
المصدر: Genomics England Research Consortium , Pagnamenta , A T , Jackson , A , Perveen , R , Beaman , G , Petts , G , Gupta , A , Hyder , Z , Chung , B H Y , Kan , A S Y , Cheung , K W , Kerstjens-Frederikse , W S , Abbott , K M , Elpeleg , O , Taylor , J C , Banka , S & Ta-Shma , A 2022 , ' Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects ' , Clinical Genetics , vol. 101 , ....
مصطلحات موضوعية: exome sequencing, genome sequencing, kidney, phenotypic variability, renal failure, SHDRA, structural heart defects and renal anomalies syndrome, TMEM260, truncus arteriosus
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/e564d3dc-f07b-49e8-9cf5-2e74c7a70c53
https://research.rug.nl/en/publications/e564d3dc-f07b-49e8-9cf5-2e74c7a70c53
https://doi.org/10.1111/cge.14071
https://pure.rug.nl/ws/files/201858026/Clinical_Genetics_2021_Pagnamenta_Biallelic_TMEM260_variants_cause_truncus_arteriosus_with_or_without_renal_defects.pdf -
9Academic Journal
المؤلفون: Willemse, Brigitte W M, van der Crabben, Saskia N, Kerstjens-Frederikse, Wilhelmina S, Timens, Wim, van Montfrans, Joris M, Lindemans, Caroline A, Boelens, Jaap Jan, Hennus, Marije P, van Haaften, Gijs
المصدر: Willemse , B W M , van der Crabben , S N , Kerstjens-Frederikse , W S , Timens , W , van Montfrans , J M , Lindemans , C A , Boelens , J J , Hennus , M P & van Haaften , G 2021 , ' New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS) ' , Orphanet journal of rare diseases , vol. 16 , no. 1 , 137 . https://doi.org/10.1186/s13023-021-01770-z
مصطلحات موضوعية: NSMCE3 gene, Severe respiratory failure, Immunodeficiency, Pediatric acute respiratory distress syndrome (PARDS), Hematopoietic stem-cell transplantation
وصف الملف: application/pdf
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10Academic Journal
المؤلفون: Imafidon, Miriam E., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Meems-Veldhuis, Martine T., Swertz, Morris A., van der Velde, K. Joeri, Beunders, Gea, Bos, Dennis K., Knoers, Nine V. A. M., Kerstjens-Frederikse, Wilhelmina S., van Diemen, Cleo C.
المصدر: Imafidon , M E , Sikkema-Raddatz , B , Abbott , K M , Meems-Veldhuis , M T , Swertz , M A , van der Velde , K J , Beunders , G , Bos , D K , Knoers , N V A M , Kerstjens-Frederikse , W S & van Diemen , C C 2021 , ' Strategies in Rapid Genetic Diagnostics of Critically Ill Children : Experiences From a Dutch University Hospital ' , Frontiers in Pediatrics , vol. 9 , 600556 . https://doi.org/10.3389/fped.2021.600556
مصطلحات موضوعية: neonatal intensive care (unit), next generation sequencing, genetic diagnostics, copy number variation, genetic disease, MEDICAL GENETICS, AMERICAN-COLLEGE, CLINICAL EXOME
وصف الملف: application/pdf
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11Academic Journal
المؤلفون: Engwerda, Aafke, Leenders, Erika K. S. M., Frentz, Barbara, Terhal, Paulien A., Lohner, Katharina, de Vries, Bert B. A., Dijkhuizen, Trijnie, Vos, Yvonne J., Rinne, Tuula, van den Berg, Maarten P., Roofthooft, Marc T. R., Deelen, Patrick, Van Ravenswaaij-Arts, Conny M. A., Kerstjens-Frederikse, Wilhelmina S.
المصدر: Engwerda , A , Leenders , E K S M , Frentz , B , Terhal , P A , Lohner , K , de Vries , B B A , Dijkhuizen , T , Vos , Y J , Rinne , T , van den Berg , M P , Roofthooft , M T R , Deelen , P , Van Ravenswaaij-Arts , C M A & Kerstjens-Frederikse , W S 2021 , ' TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility ' , European Journal of Human ....
مصطلحات موضوعية: CONGENITAL HEART-DEFECTS, GROWTH FAILURE, MICRODELETION, DELINEATION, DYSPLASIA, TAK1
وصف الملف: application/pdf
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12Academic Journal
المؤلفون: Li, Shuang, Van Der Velde, K.J., De Ridder, Dick, Van Dijk, Aalt D.J., Soudis, Dimitrios, Zwerwer, Leslie R., Deelen, Patrick, Hendriksen, Dennis, Charbon, Bart, Van Gijn, Marielle E., Abbott, Kristin, Sikkema-Raddatz, Birgit, Van Diemen, Cleo C., Kerstjens-Frederikse, Wilhelmina S., Sinke, Richard J., Swertz, Morris A.
المصدر: Genome Medicine 12 (2020) 1 ; ISSN: 1756-994X
مصطلحات موضوعية: Allele frequency, Clinical genetics, Exome sequencing, Genome diagnostics, Machine learning, Molecular consequence, Variant pathogenicity prediction
وصف الملف: application/pdf
Relation: https://edepot.wur.nl/531069
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13Academic Journal
المؤلفون: Le, Thuy-Linh, Sribudiani, Yunia, Dong, Xiaomin, Huber, Céline, Kois, Chelsea, Baujat, Geneviève, Gordon, Christopher T., Mayne, Valerie, Galmiche, Louise, Serre, Valérie, Goudin, Nicolas, Zarhrate, Mohammed, Bole-Feysot, Christine, Masson, Cécile, Nitschké, Patrick, Verheijen, Frans W., Pais, Lynn, Pelet, Anna, Sadedin, Simon, Pugh, John A., Shur, Natasha, White, Susan M., El Chehadeh, Salima, Christodoulou, John, Cormier-Daire, Valérie, Hofstra, R.M.W., Lyonnet, Stanislas, Tan, Tiong Yang, Attié-Bitach, Tania, Kerstjens-Frederikse, Wilhelmina S., Amiel, Jeanne, Thomas, Sophie
المساهمون: Université Paris Cité (UPCité), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Embryology and genetics of human malformation, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Bases moléculaires et physiopathologiques des ostéochondrodysplasies = Molecular and physiopathological bases of osteochondrodysplasia, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Jacques Monod (IJM (UMR_7592)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Structure Fédérative de Recherche Necker (UAR 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Genetics and Development of the Cerebral Cortex (Equipe Inserm U1163), ANR-17-CE16-0003,CentrosomeCiliaMicroceph,Mécanismes physiopathologiques des microcéphalies Rôle du centrosome et du cil primaire dans le développement du cortex cérébral(2017), ANR-17-RHUS-0002,C'IL-LICO,Next generation medicine for renal ciliopathies(2017)
المصدر: ISSN: 0002-9297.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
Relation: hal-03490735; https://hal.science/hal-03490735; https://hal.science/hal-03490735/document; https://hal.science/hal-03490735/file/S0002929720301191.pdf; PII: S0002-9297(20)30119-1; PUBMEDCENTRAL: PMC7273534
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14Academic Journal
المؤلفون: Haarman, Meindina G, Kerstjens-Frederikse, Wilhelmina S, Vissia-Kazemier, Theresia R, Breeman, Karel T N, Timens, Wim, Vos, Yvonne J, Roofthooft, Marc T R, Hillege, Hans L, Berger, Rolf M F
المصدر: Haarman , M G , Kerstjens-Frederikse , W S , Vissia-Kazemier , T R , Breeman , K T N , Timens , W , Vos , Y J , Roofthooft , M T R , Hillege , H L & Berger , R M F 2020 , ' The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension ' , The Journal of Pediatrics , vol. 225 , pp. 65-+ . https://doi.org/10.1016/j.jpeds.2020.05.051
مصطلحات موضوعية: ACTA2 MUTATION, BMPR2, TBX4, POLYCYTHEMIA, ASSOCIATION, GUIDELINES, MANAGEMENT, PHENOTYPE, CONSENSUS, VARIANTS
وصف الملف: application/pdf
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15Academic Journal
المؤلفون: Aukema, Sietse M., ten Brinke, Gerdien A., Timens, Wim, Vos, Yvonne J., Accord, Ryan E., Kraft, Karianne E., Santing, Michiel J., Morssink, Leonard P., Streefland, Esther, van Diemen, Cleo C., Vrijlandt, Elianne J. L. E., Hulzebos, Christian, Kerstjens-Frederikse, Wilhelmina S.
المصدر: Aukema , S M , ten Brinke , G A , Timens , W , Vos , Y J , Accord , R E , Kraft , K E , Santing , M J , Morssink , L P , Streefland , E , van Diemen , C C , Vrijlandt , E J L E , Hulzebos , C & Kerstjens-Frederikse , W S 2020 , ' A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis ' , American Journal of Medical Genetics. Part A , vol. 182 , ....
مصطلحات موضوعية: BMP9, GDF2, hereditary hemorrhagic telangiectasia, lymphatic dysplasia, nonimmune hydrops fetalis, pulmonary arterial hypertension, PULMONARY INTERSTITIAL GLYCOGENOSIS, PROTEIN 9, KINASE 1, MUTATIONS, PHENOTYPE, TRISOMY-20, KNOWLEDGE, SPECTRUM, INSIGHTS
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/f6dac0af-8372-469e-80f9-c7c79a7fd79e
https://research.rug.nl/en/publications/f6dac0af-8372-469e-80f9-c7c79a7fd79e
https://doi.org/10.1002/ajmg.a.61743
https://pure.rug.nl/ws/files/129399560/A_homozygous_variant_in_growth_and_differentiation_factor_2_GDF2_may_cause_lymphatic_dysplasia_with_hydrothorax_and_nonimmune_hydrops_fetalis.pdf -
16Academic Journal
المصدر: Haarman , M G , Kerstjens-Frederikse , W S & Berger , R M F 2020 , ' TBX4 variants and pulmonary diseases : getting out of the 'Box' ' , Current Opinion in Pulmonary Medicine , vol. 26 , no. 3 , pp. 277-284 . https://doi.org/10.1097/MCP.0000000000000678
مصطلحات موضوعية: lung disease, pulmonary arterial hypertension, T-Box factor 4, GROWTH-FACTOR, ARTERIAL-HYPERTENSION, BETA-RECEPTOR, GENE, EXPRESSION, MUTATIONS, FGF10, CHILDREN, IDENTITY, CLONING
وصف الملف: application/pdf
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17
المؤلفون: Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, W., Frederix, Geert W.J., Vissers, L. E.L.M., Henneman, L., van Haelst, M. M., Sistermans, E. A., Cornel, M. C., Misra-Isrie, M., Mannens, M. M.A.M., Waisfisz, Q., van Hagen, J. M., Brooks, A. S., Barakat, T. S., Hoefsloot, E. H., van Lingen, R. A., Ruivenkamp, C. A.L., Koene, S., Rutten, J. W., de Koning, B., Stevens, S. J.C., van den Wijngaard, A., Stegmann, A. P.A., Deden, A. C., Rodenburg, W., Sinke, R. J., van der Velde, K. J., de Vries, L. S., Frederix, G. W.J., Oegema, R.
المساهمون: Clinical Genetics, Pediatric Surgery, Radiology & Nuclear Medicine, Internal Medicine, Department of Finance, Cell biology, Cardiothoracic Surgery, Molecular Genetics, Pathology, Erasmus School of Law, Health Economics (HE)
المصدر: European Journal of Pediatrics. Springer-Verlag
وصف الملف: application/pdf
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18Academic Journal
المؤلفون: Deelen, Patrick, van Dam, Sipko, Herkert, Johanna C, Karjalainen, Juha M, Brugge, Harm, Abbott, Kristin M, van Diemen, Cleo C, van der Zwaag, Paul A, Gerkes, Erica H, Zonneveld-Huijssoon, Evelien, Boer-Bergsma, Jelkje J, Folkertsma, Pytrik, Gillett, Tessa, van der Velde, K Joeri, Kanninga, Roan, van den Akker, Peter C, Jan, Sabrina Z, Hoorntje, Edgar T, Te Rijdt, Wouter P, Vos, Yvonne J, Jongbloed, Jan D H, van Ravenswaaij-Arts, Conny M A, Sinke, Richard, Sikkema-Raddatz, Birgit, Kerstjens-Frederikse, Wilhelmina S, Swertz, Morris A, Franke, Lude
المصدر: Deelen , P , van Dam , S , Herkert , J C , Karjalainen , J M , Brugge , H , Abbott , K M , van Diemen , C C , van der Zwaag , P A , Gerkes , E H , Zonneveld-Huijssoon , E , Boer-Bergsma , J J , Folkertsma , P , Gillett , T , van der Velde , K J , Kanninga , R , van den Akker , P C , Jan , S Z , Hoorntje , E T , Te Rijdt , W P , Vos , ....
مصطلحات موضوعية: DISEASE, IDENTIFICATION, DISCOVERY, PRIORITIZATION, MUTATIONS, GENOTYPES, VARIANTS
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/091ea493-2d53-47cc-9e45-77316de01c4d
https://research.rug.nl/en/publications/091ea493-2d53-47cc-9e45-77316de01c4d
https://doi.org/10.1038/s41467-019-10649-4
https://pure.rug.nl/ws/files/88759407/Improving_the_diagnostic_yield_of_exome_sequencing_by_predicting_gene_phenotype_associations_using_large_scale_gene_expression_analysis.pdf -
19Academic Journal
المصدر: Haarman , M G , Kerstjens-Frederikse , W S & Berger , R M F 2019 , ' The ever-expanding phenotypical spectrum of human TBX4 mutations : from toe to lung ' , European Respiratory Journal , vol. 54 , no. 2 , 1901504 . https://doi.org/10.1183/13993003.01504-2019
مصطلحات موضوعية: GENES
وصف الملف: application/pdf
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20
المؤلفون: Engwerda, Aafke, Frentz, Barbara, Rraku, Eleana, de Souza, Nadia F. Simoes, Swertz, Morris A., Plantinga, Mirjam, Kerstjens-Frederikse, Wilhelmina S., Ranchor, Adelita V., van Ravenswaaij-Arts, Conny M. A.