المؤلفون: El-Ghazali, Asmaa, Wallace, Stephanie E., Wu, Kyle, Nguyen, Jimmy, Byers, Peter, Shalhub, Sherene

المصدر: Journal of Vascular Surgery ; volume 75, issue 3, page e44-e45 ; ISSN 0741-5214

الاتاحة: http://dx.doi.org/10.1016/j.jvs.2021.12.031
https://api.elsevier.com/content/article/PII:S0741521421027002?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0741521421027002?httpAccept=text/plain

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortes, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernandez-Chico, Concepcion, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J. M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., van den Ende, Jenneke, Vergano, Samantha A. Schrier, Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

المصدر: 1059-7794 ; Human mutation

مصطلحات موضوعية: Human medicine

وصف الملف: pdf

Relation: info:eu-repo/semantics/altIdentifier/isi/000492598500001

الاتاحة: https://hdl.handle.net/10067/1646780151162165141
https://repository.uantwerpen.be/docman/irua/13fa5b/164678.pdf

المؤلفون: Wallace, Stephanie E., Regalado, Ellen S., Gong, Limin, Janda, Alexandra L., Guo, Dong-chuan, Russo, Claudio F., Kulmacz, Richard J., Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine, Arnaud, Pauline, Lee, Kwanghyuk, Leal, Suzanne M., Hannuksela, Matias, Carlberg, Bo, Johnston, Tami, Antolik, Christian, Hostetler, Ellen M., Colombo, Roberto, Milewicz, Dianna M.

المصدر: Genetics in Medicine ; volume 21, issue 1, page 144-151 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0038-0
https://www.nature.com/articles/s41436-018-0038-0
https://www.nature.com/articles/s41436-018-0038-0.pdf
https://api.elsevier.com/content/article/PII:S1098360021001027?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021001027?httpAccept=text/plain

المؤلفون: Duker, Angela, Velasco, Danita, Robertson, Nic, Jackson, Andrew P, DeFelice, Magee, Adam, Margaret, Mirzaa, Ghayda, Pagon, Roberta A., Wallace, Stephanie E, Bean, Lora JH, Gripp, Karen W, Amemiya, Anne

المصدر: Duker, A, Velasco, D, Robertson, N, Jackson, A P, DeFelice, M, Adam, M, Mirzaa, G, Pagon, R A, Wallace, S E, Bean, L JH, Gripp, K W & Amemiya, A 2023, RNU4atac-opathy . in GeneReviews . < https://www.ncbi.nlm.nih.gov/books/NBK133289/ >

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3094::5362e9ce81c52b1f5306d306ba7f6996
https://www.pure.ed.ac.uk/ws/files/337454266/Bookshelf_NBK589232.pdf

المؤلفون: Guo, Dong-chuan, Regalado, Ellen S., Pinard, Amelie, Chen, Jiyuan, Lee, Kwanghyuk, Rigelsky, Christina, Zilberberg, Lior, Hostetler, Ellen M., Aldred, Micheala, Wallace, Stephanie E., Prakash, Siddharth K., Leal, Suzanne M., Bamshad, Michael J., Nickerson, Deborah A., Natowicz, Marvin, Rifkin, Daniel B., Milewicz, Dianna M.

المساهمون: National Heart, Lung, and Blood Institute, John Ritter Foundation, National Human Genome Research Institute, National Heart, Lung and Blood Institute Resequencing and Genotyping Service, Marfan Foundation

المصدر: The American Journal of Human Genetics ; volume 102, issue 4, page 706-712 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2018.03.002
https://api.elsevier.com/content/article/PII:S0002929718300910?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929718300910?httpAccept=text/plain

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B M, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M

المساهمون: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Martinez Ojeda, Mayra, Mcdougall, Carey, Mcgregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan

مصطلحات موضوعية: NF1, genotype-phenotype correlation, p.Arg1276, p.Lys1423, p.Met1149

Relation: info:eu-repo/semantics/altIdentifier/pmid/31595648; info:eu-repo/semantics/altIdentifier/wos/WOS:000492598500001; volume:41; issue:1; firstpage:299-315; lastpage:315; journal:HUMAN MUTATION; http://hdl.handle.net/11386/4744736; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074609550

الاتاحة: http://hdl.handle.net/11386/4744736
https://doi.org/10.1002/humu.23929

المؤلفون: Wallace, Stephanie E., Regalado, Ellen S., Gong, Limin, Janda, Alexandra L., Guo, Dong-chuan, Russo, Claudio F., Kulmacz, Richard J., Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine, Arnaud, Pauline, Lee, Kwanghyuk, Leal, Suzanne M., Hannuksela, Matias, Carlberg, Bo, Johnston, Tami, Antolik, Christian, Hostetler, Ellen M., Colombo, Roberto, Milewicz, Dianna M.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Adult, Male, Heterozygote, MYLK, acute aortic dissection, Calcium-Binding Proteins, Aortic Diseases, High-Throughput Nucleotide Sequencing, Middle Aged, thoracic aortic surgery, Article, Pedigree, Aortic Dissection, myosin light chain kinase, Pregnancy, cardiovascular system, Humans, Female, Genetic Testing, hereditary thoracic aortic disease, Myosin-Light-Chain Kinase, Aorta, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::901d6fa5a41c2637023a6d6b60e69d24
http://europepmc.org/articles/PMC6400320

المؤلفون: Shalhub, Sherene, Sage, Liz, Demasi, John, Wallace, Stephanie E., Fulton, Daphne S., Bloom, Lara, Driessnack, Martha, Byers, Peter H.

المساهمون: Patient-Centered Outcomes Research Institute

المصدر: Annals of Vascular Surgery ; volume 62, page 326-334 ; ISSN 0890-5096

الاتاحة: http://dx.doi.org/10.1016/j.avsg.2019.06.010
https://api.elsevier.com/content/article/PII:S0890509619305850?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0890509619305850?httpAccept=text/plain

المؤلفون: Hostetler, Ellen M, Regalado, Ellen S, Guo, Dong-Chuan, Hanna, Nadine, Arnaud, Pauline, Muiño Mosquera, Laura, Callewaert, Bert, Lee, Kwanghyuk, Leal, Suzanne M, Wallace, Stephanie E, Rideout, Andrea L, Dyack, Sarah, Aatre, Rajani D, Boileau, Catherine, De Backer, Julie, Jondeau, Guillaume, Milewicz, Dianna M

المصدر: JOURNAL OF MEDICAL GENETICS ; ISSN: 0022-2593 ; ISSN: 1468-6244

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, Genetics(clinical), Genetics

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8591675; http://hdl.handle.net/1854/LU-8591675; http://dx.doi.org/10.1136/jmedgenet-2018-105583; https://biblio.ugent.be/publication/8591675/file/8603989

الاتاحة: https://biblio.ugent.be/publication/8591675
http://hdl.handle.net/1854/LU-8591675
https://doi.org/10.1136/jmedgenet-2018-105583
https://biblio.ugent.be/publication/8591675/file/8603989

المؤلفون: Gauthier, Julie, Meijer, Inge A, Lessel, Davor, Mencacci, Niccolo E, Krainc, Dimitri, Hempel, Maja, Tsiakas, Konstantinos, Prokisch, Holger, Rossignol, Elsa, Helm, Margaret H, Rodan, Lance H, Karamchandani, Jason, Carecchio, Miryam, Lubbe, Steven J, Telegrafi, Aida, Henderson, Lindsay B, Lorenzo, Kerry, Wallace, Stephanie E, Glass, Ian A, Hamdan, Fadi F, Michaud, Jacques L, Rouleau, Guy A, Campeau, Philippe M

المساهمون: Institut für Humangenetik

مصطلحات موضوعية: info:eu-repo/classification/ddc

Relation: https://mediatum.ub.tum.de/1589942

الاتاحة: https://mediatum.ub.tum.de/1589942
https://doi.org/10.1002/ana.25204

المؤلفون: Wallace, Stephanie E., Bird, Thomas D.

المصدر: Neurology Clinical Practice ; volume 8, issue 1, page 27-32 ; ISSN 2163-0402 2163-0933

الاتاحة: http://dx.doi.org/10.1212/cpj.0000000000000421
https://www.neurology.org/doi/pdfdirect/10.1212/CPJ.0000000000000421

المؤلفون: Wallace, Stephanie E., Gilvary, Sara, Smith, Michael J., Dolan, Siobhan M.

المصدر: Journal of Genetic Counseling ; volume 27, issue 3, page 656-664 ; ISSN 1059-7700 1573-3599

الاتاحة: http://dx.doi.org/10.1007/s10897-017-0168-6
http://link.springer.com/article/10.1007/s10897-017-0168-6/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10897-017-0168-6.pdf
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10897-017-0168-6

المؤلفون: Maas, Saskia, Shaw, Adam, Bikker, Hennie, Hennekam, Raoul C. M., Adam, Margaret P., Ardinger, Holly H., Pagon, Roberta A., Wallace, Stephanie E., Bean, Lora J. H., Stephens, Karen, Amemiya, Anne

المساهمون: Human Genetics, Amsterdam Reproduction & Development (AR&D), Other Research, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Cardiovascular Sciences, APH - Quality of Care, ACS - Pulmonary hypertension & thrombosis

المصدر: GeneReviews

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::5d8f1482a2cf29b609c9896b2a7b9b56
https://pure.amc.nl/en/publications/trichorhinophalangeal-syndrome(a0d005a6-d409-4fd1-9db4-00ffe9c8eff4).html

المؤلفون: Wallace, Stephanie E., Conta, Jessie H., Winder, Thomas L., Willer, Tobias, Eskuri, Jamie M., Haas, Richard, Patterson, Kathleen, Campbell, Kevin P., Moore, Steven A., Gospe, Sidney M.

المصدر: Neuromuscular Disorders ; volume 24, issue 4, page 312-320 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2014.01.001
https://api.elsevier.com/content/article/PII:S0960896614000030?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896614000030?httpAccept=text/plain

المؤلفون: Wallace, Stephanie E., Gilvary, Sara, Smith, Michael J., Dolan, Siobhan M.

المصدر: Journal of Genetic Counseling; Jun2018, Vol. 27 Issue 3, p656-664, 9p

المؤلفون: Wallace, Stephanie E., Lachman, Ralph S., Mekikian, Pertchoui B., Bui, Kathy K., Wilcox, William R.

المصدر: American Journal of Medical Genetics Part A ; volume 129A, issue 3, page 235-247 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.30148
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.30148
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.30148

المؤلفون: Hostetler, Ellen M, Regalado, Ellen S, Guo, Dong-Chuan, Hanna, Nadine, Arnaud, Pauline, Muiño-Mosquera, Laura, Callewaert, Bert Louis, Lee, Kwanghyuk, Leal, Suzanne M, Wallace, Stephanie E, Rideout, Andrea L, Dyack, Sarah, Aatre, Rajani D, Boileau, Catherine, De Backer, Julie, Jondeau, Guillaume, Milewicz, Dianna M

المصدر: Journal of Medical Genetics (JMG); 2019, Vol. 56 Issue: 4 p252-260, 9p

المؤلفون: Wallace, Stephanie E., Regalado, Ellen S., Gong, Limin, Janda, Alexandra L., Guo, Dong-chuan, Russo, Claudio F., Kulmacz, Richard J., Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine, Arnaud, Pauline, Lee, Kwanghyuk, Leal, Suzanne M., Hannuksela, Matias, Carlberg, Bo, Johnston, Tami, Antolik, Christian, Hostetler, Ellen M., Colombo, Roberto, Milewicz, Dianna M.

المصدر: Genetics in Medicine; January 2019, Vol. 21 Issue: 1 p144-151, 8p

المؤلفون: Farrell, John J., Hicks, Jennifer L., Wallace, Stephanie E., Seftel, Allen D.

المصدر: Research & Reports in Urology; Feb2017, Vol. 9, p37-41, 5p, 1 Diagram, 2 Charts

مصطلحات موضوعية: COMPETITIVE exclusion (Microbiology), PROSTATE biopsy, FLUOROQUINOLONES, SEPSIS, ENDORECTAL ultrasonography, PREOPERATIVE care, ANTIBIOTIC prophylaxis

المؤلفون: Wallace, Stephanie E., Gilvary, Sara, Smith, Michael J., Dolan, Siobhan M.

المصدر: PsycTESTS Dataset

الاتاحة: http://dx.doi.org/10.1037/t74492-000