المؤلفون: Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje WM, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J, Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen LI, Juusola, Jane, Foss, Kimberly, Enns, Gregory M, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B, Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, Retterer, Kyle

المصدر: American Journal of Human Genetics. 101(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, Undiagnosed Diseases Network, GEM HUGO, Deciphering Developmental Disorders Study, AMPAR, CAMK2, CAMK2A, CAMK2B, NMDAR, de novo mutations, intellectual disability, synaptic plasticity, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9gc6k2mk

المؤلفون: Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T, Nesbitt, Addie I, Au, PY Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M, Cao, Kajia, de Brouwer, Arjan PM, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire LS, Verbeek, Nienke E, Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G, Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Study, Deciphering Developmental Disorders, Kleefstra, Tjitske, Robertson, Stephen P, Santani, Avni, van Gassen, Koen LI, Deardorff, Matthew A

المصدر: American Journal of Human Genetics. 101(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Dental/Oral and Craniofacial Disease, Rare Diseases, Neurodegenerative, Epilepsy, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Amino Acid Sequence, Base Sequence, Child, Preschool, Chromosome Deletion, Facies, Female, Gait, Growth and Development, Haploinsufficiency, Humans, Intellectual Disability, Male, Mutation, Proteins, RNA Stability, Seizures, Syndrome, Deciphering Developmental Disorders Study, WD-40, WDR protein, WDR26, intellectual disability, seizure, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0q21846m

المؤلفون: Leung, Marco L., McAdoo, Sallie, Watson, Deborah, Stumm, Kallyn, Harr, Margaret, Wang, Xiang, Chung, Christine H., Mafra, Fernanda, Nesbitt, Addie I., Hakonarson, Hakon, Santani, Avni

المساهمون: Children’s Hospital of Philadelphia

المصدر: The Journal of Molecular Diagnostics ; volume 23, issue 1, page 91-102 ; ISSN 1525-1578

الاتاحة: http://dx.doi.org/10.1016/j.jmoldx.2020.10.009
https://api.elsevier.com/content/article/PII:S1525157820305328?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525157820305328?httpAccept=text/plain

المؤلفون: Matthan, Joanna, Gray, Matthew, Nesbitt, Craig I, Bookless, Lucy, Stansby, Gerard, Phillips, Alexander

المصدر: Cureus ; ISSN 2168-8184

الاتاحة: http://dx.doi.org/10.7759/cureus.7486
https://www.cureus.com/articles/27762-perceived-anxiety-is-negligible-in-medical-students-receiving-video-feedback-during-simulated-core-practical-skills-teaching-a-randomised-trial-comparing-two-feedback-modalities

المؤلفون: Nesbitt, Craig I., Tingle, Samual J., Williams, Robin, McCaslin, James E., Searle, Roger, Mafeld, Sebastian, Stansby, Gerard P.

المساهمون: Medtronic

المصدر: European Journal of Vascular and Endovascular Surgery ; volume 58, issue 4, page 602-608 ; ISSN 1078-5884

الاتاحة: http://dx.doi.org/10.1016/j.ejvs.2019.03.026
https://api.elsevier.com/content/article/PII:S1078588419302060?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1078588419302060?httpAccept=text/plain

المؤلفون: Baker, Samuel W., Murrell, Jill R., Nesbitt, Addie I., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Yu, Zhenming, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wilkens, Alisha B., Bhoj, Elizabeth J., Guan, Qiaoning, Dulik, Matthew C., Conlin, Laura K., Abou Tayoun, Ahmad N., Luo, Minjie, Wu, Chao, Cao, Kajia, Sarmady, Mahdi, Bedoukian, Emma C., Tarpinian, Jennifer, Medne, Livija, Skraban, Cara M., Deardorff, Matthew A., Krantz, Ian D., Krock, Bryan L., Santani, Avni B.

المصدر: The Journal of Molecular Diagnostics ; volume 21, issue 1, page 38-48 ; ISSN 1525-1578

الاتاحة: http://dx.doi.org/10.1016/j.jmoldx.2018.07.008
https://api.elsevier.com/content/article/PII:S152515781830062X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S152515781830062X?httpAccept=text/plain

المؤلفون: Olson, Heather E., Jean-Marcais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R. F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J., Burglen, Lydie, Lesca, Gaetan, Cho, Megan T., Smith, Lacey A., Sheidley, Beth R., El Achkar, Christelle Moufawad, Pearl, Phillip L., Poduri, Annapurna, Skraban, Cara M., Tarpinian, Jennifer, Nesbitt, Addie I., van de Putte, Dietje E. Fransen, Ruivenkamp, Claudia A. L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A., Waxler, Jessica L., Wierenga, Klaas J., Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M., Nava, Caroline, Riviere, Jean-Baptiste, Vitobello, Antonio, Mau-Them, Frederic Tran, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H., Brunner, Han G., Thauvin-Robinet, Christel

المصدر: Olson , H E , Jean-Marcais , N , Yang , E , Heron , D , Tatton-Brown , K , van der Zwaag , P A , Bijlsma , E K , Krock , B L , Backer , E , Kamsteeg , E-J , Sinnema , M , Reijnders , M R F , Bearden , D , Begtrup , A , Telegrafi , A , Lunsing , R J , Burglen , L , Lesca , G , Cho , M T , Smith , L A , Sheidley , B R , El Achkar , ....

مصطلحات موضوعية: INTELLECTUAL DISABILITY, MENDELIAN DISORDERS, CLINICAL EPILEPSY, MUTATIONS, DISEASE, APOPTOSIS, PHENOTYPE, DIAGNOSIS, PROTEINS, GENETICS, Cerebellar Diseases/genetics, Mutation, Missense/genetics, Humans, Child, Preschool, Infant, Male, Epilepsy, Generalized/genetics, Age of Onset, Facies, Female, Heterozygote, Newborn, Vesicular Transport Proteins/genetics

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/1a84e5e5-bac4-4f82-8d92-b7adada3e6a8
https://doi.org/10.1016/j.ajhg.2018.03.005

المؤلفون: Buchert, Rebecca, Nesbitt, Addie I., Tawamie, Hasan, Krantz, Ian D., Medne, Livija, Helbig, Ingo, Matalon, Dena R., Reis, André, Santani, Avni, Sticht, Heinrich, Jamra, Rami Abou

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

Relation: https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/8093; urn:nbn:de:bvb:29-opus4-80931; https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80931; https://doi.org/10.1186/s13023-016-0509-9; https://opus4.kobv.de/opus4-fau/files/8093/Buchert_SPATA5.pdf

الاتاحة: https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/8093
https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80931
https://doi.org/10.1186/s13023-016-0509-9
https://opus4.kobv.de/opus4-fau/files/8093/Buchert_SPATA5.pdf

المؤلفون: Jean-Marcais, N., Olson, H. E., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E., Sinnema, M., Reijnders, M. R. F., Bearden, D., Lunsing, R. J., Burglen, L., Lesca, G., Smith, L. A., Sheidley, B., Pearl, P. L., El Achkar, C. Moufawad, Poduri, A., Skraban, C. M., Nesbitt, A. I., van de Putte, D. E. Fransen, Ruivenkamp, C. A. L., Rump, P., Sabatier, I., Sweetser, D. A., Waxler, J. L., Tarpinian, J., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Lelieveld, S. H., Schuurs-Hoeijmakers, J., Brunner, H. G., Keren, B., Mau-Them, F. Tran, Thevenon, J., Faivre, L., Thomas, G., Thauvin-Robinet, C.

المصدر: European Journal of Human Genetics, 27, 853-854. Nature Publishing Group

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::d0114cea4f687e72dbc0ec2faa82754e
https://research.rug.nl/en/publications/0b4fba38-3f4b-40f5-9cd4-f1696ea47a29

المؤلفون: Olson, Heather E., Jean-Marcais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R. F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J., Burglen, Lydie, Lesca, Gaetan, Cho, Megan T., Smith, Lacey A., Sheidley, Beth R., El Achkar, Christelle Moufawad, Pearl, Phillip L., Poduri, Annapurna, Skraban, Cara M., Tarpinian, Jennifer, Nesbitt, Addie I., van de Putte, Dietje E. Fransen, Ruivenkamp, Claudia A. L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A., Waxler, Jessica L., Wierenga, Klaas J., Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M., Nava, Caroline, Riviere, Jean-Baptiste, Vitobello, Antonio, Mau-Them, Frerdric Tran, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H., Schuurs-Hoeijmakers, Janneke

المصدر: American Journal of Human Genetics, 103(4). CELL PRESS

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::01838d5831340613a10b72fcd18b6fe1
https://research.rug.nl/en/publications/58362dbc-eda3-4db2-be27-f2063dd044ab

المؤلفون: Gregor, Anne, Sadleir, Lynette, Asadollahi, Reza, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cogné, Benjamin, Dallapiccola, Bruno, Distelmaier, Felix, Elmslie, Frances, Faivre, Laurence, Haack, Tobias, B, Harrison, Victoria, Henderson, Alex, Hunt, David, Isidor, Bertrand, Joset, Pascal, Kumada, Satoko, Lachmeijer, Augusta M.A., Lees, Melissa, Lynch, Sally Ann, Martinez, Francisco, Matsumoto, Naomichi, Mcdougall, Carey, Mefford, Heather, Miyake, Noriko, Myers, Candace, Moutton, Sébastien, Nesbitt, Addie, I., Novelli, Antonio, Orellana, Carmen, Rauch, Anita, Rosello, Monica, Saida, Ken, Santani, Avni, B., Sarkar, Ajoy, Scheffer, Ingrid, E., Shinawi, Marwan, Steindl, Katharina, Symonds, Joseph, Zackai, Elaine, University of Washington Center For Mendelian Genomics, Ddd Study3, Reis, André, Sticht, Heinrich, Zweier, Christiane

المساهمون: Institute of Human Genetics Erlangen, Allemagne, Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, ITX - unité de recherche de l'institut du thorax (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Medical Genetics and Pediatric Cardiology, IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, St. George's Hospital, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institute of Human Genetics, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM)-Helmholtz Zentrum München = German Research Center for Environmental Health (HMGU), Newcastle Upon Tyne Hospitals NHS Trust, Temple Street Children's University Hospital Dublin, Yokohama City University School of Medecine (YCUSM), Yokohama University School of Medecine, Children’s Hospital of Philadelphia (CHOP), Institute of Medical Genetics, Universität Zürich Zürich = University of Zurich (UZH), Department of Pathology and Laboratory Medicine Philadelphia, PA, USA, University of Pennsylvania-Perelman School of Medicine, University of Pennsylvania, Nottingham Regional Genetics Service Nottingham, UK, Nottingham University Hospitals NHS Trust (NUH)-City Hospital Campus Nottingham, UK, Departments of Medicine and Paediatrics (Austin Health and Royal Children’s Hospital), University of Melbourne-Austin Health, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Bioinformatik, Institut für Biochemie

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: FBXO11, intellectual disability, neurodevelopmental disorder, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/30057029; PUBMED: 30057029; PUBMEDCENTRAL: PMC6080769

الاتاحة: https://u-bourgogne.hal.science/hal-02063487
https://doi.org/10.1016/j.ajhg.2018.07.003

المؤلفون: Rammell, James, Matthan, Joanna, Gray, Matthew, Bookless, Lucy R., Nesbitt, Craig I., Rodham, Paul, Moss, John, Stansby, Gerard, Phillips, Alexander W.

المصدر: Journal of Surgical Education ; volume 75, issue 6, page 1463-1470 ; ISSN 1931-7204

الاتاحة: http://dx.doi.org/10.1016/j.jsurg.2018.03.013
https://api.elsevier.com/content/article/PII:S1931720417307249?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1931720417307249?httpAccept=text/plain

المؤلفون: Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P Y B, Begtrup, A., Bernat, J. A., Bird, L. M, Cao, K., de Brouwer, A P M, Denenberg, E H, Douglas, G, Gibson, K M, Grand, K, Goldenberg, A, Innes, A M, Juusola, J, Kempers, M, Kinning, E, Markie, D M, Owens, Martina, Payne, K, Person, R, Pfundt, R, Stocco, A, Turner, Claire L., Verbeek, N E, Walsh, L E, Warner, T C, Wheeler, P G, Wieczorek, D, Wilkens, A B, Zonneveld-Huijssoon, E, Kleefstra, T, Robertson, S P, Santani, A, van Gassen, K L I, Deardorff, M A

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(17)30237-9; WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. 2017, 101 (1):139-148 Am. J. Hum. Genet.; http://hdl.handle.net/11287/620408; American journal of human genetics

الاتاحة: http://hdl.handle.net/11287/620408
https://doi.org/10.1016/j.ajhg.2017.06.002

المؤلفون: Bookless, Lucy R., Phillips, Alexander W., Matthan, Joanna, Nesbitt, Craig I.

المصدر: Annals of Surgery ; volume 266, issue 6, page e67-e68 ; ISSN 0003-4932

الاتاحة: http://dx.doi.org/10.1097/sla.0000000000001515
https://journals.lww.com/10.1097/SLA.0000000000001515

المؤلفون: Phillips, Alexander W., Matthan, Joanna, Bookless, Lucy R., Whitehead, Ian J., Madhavan, Anantha, Rodham, Paul, Porter, Anna L.R., Nesbitt, Craig I., Stansby, Gerard

المصدر: Journal of Surgical Education ; volume 74, issue 4, page 612-620 ; ISSN 1931-7204

الاتاحة: http://dx.doi.org/10.1016/j.jsurg.2016.12.003
https://api.elsevier.com/content/article/PII:S1931720416301994?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1931720416301994?httpAccept=text/plain

المؤلفون: Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, DDD Study

URL: http://hdl.handle.net/1874/376999
0002-9297
American Journal of Human Genetics
102
5
995
1007

المؤلفون: Genetica Klinische Genetica, Cancer, Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, DDD Study

URL: https://doi.org/10.1016/j.ajhg.2018.03.005
http://hdl.handle.net/1874/376999
https://dspace.library.uu.nl/handle/1874/376999
0002-9297
American Journal of Human Genetics
102
5
995
1007

المؤلفون: Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C, Cho, Megan T., Prescott, Trine E, Ploeg, Melissa A, Sanders, Jan-Stephan, Stessman, Holly A F, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W M, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen L I, Juusola, Jane, Verbeek, Nienke E, Undiagnosed Diseases Network

URL: https://doi.org/10.1016/j.ajhg.2017.10.003
http://hdl.handle.net/1874/356636
https://dspace.library.uu.nl/handle/1874/356636
0002-9297
American Journal of Human Genetics
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5
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المؤلفون: Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T., Nesbitt, Addie I, Au, P Y Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P M, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L S, Verbeek, Nienke E., Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A

URL: https://doi.org/10.1016/j.ajhg.2017.06.002
http://hdl.handle.net/1874/355019
https://dspace.library.uu.nl/handle/1874/355019
http://www.scopus.com/inward/record.url?scp=85021446828&partnerID=8YFLogxK
0002-9297
American Journal of Human Genetics
101
1
139
148

المؤلفون: Nesbitt, Craig I., Phillips, Alexander W., Searle, Roger F., Stansby, Gerard

المصدر: Journal of Surgical Education ; volume 72, issue 4, page 697-703 ; ISSN 1931-7204

الاتاحة: http://dx.doi.org/10.1016/j.jsurg.2014.12.013
https://api.elsevier.com/content/article/PII:S193172041400347X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S193172041400347X?httpAccept=text/plain