يعرض 1 - 10 نتائج من 30 نتيجة بحث عن '"Cunningham, Mitch"', وقت الاستعلام: 1.58s تنقيح النتائج
  1. 1
    دورية أكاديمية

    المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics

    وصف الملف: application/pdf

    العلاقة: WKC is funded by grants from the JPB Foundation and Simons Foundation. IS is supported by a pilot grant from the Columbia University Sergievsky Center.; Acharya , A , Kavus , H , Dunn , P , Nasir , A , Folk , L , Withrow , K , Wentzensen , I M , Ruzhnikov , M R Z , Fallot , C , Smol , T , Rama , M , Brown , K , Whalen , S , Ziegler , A , Barth , M , Chassevent , A , Smith-Hicks , C , Afenjar , A , Courtin , T , Heide , S , Font-Montgomery , E , Heid , C , Hamm , J A , Love , D R , Thabet , F , Misra , V K , Cunningham , M , Leal , S M , Järvelä , I , Normand , E A , Zou , F , Helal , M , Keren , B , Torti , E , Chung , W K & Schrauwen , I 2022 , ' Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders ' , Journal of Medical Genetics , vol. 59 , pp. 669–677 . https://doi.org/10.1136/jmedgenet-2021-107871Test; ORCID: /0000-0002-1770-6187/work/127003138; e3ee1496-7280-490f-9cbe-b4337608689c; http://hdl.handle.net/10138/353339Test; 000728118500001

  2. 2
    دورية أكاديمية

    المساهمون: Columbia University Medical Center (CUMC), Columbia University New York, The George Washington University (GW), University of Agriculture Faisalabad - UAF (PAKISTAN), GeneDx Gaithersburg, MD, USA, Stanford University, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Institut de génétique médicale, University of Colorado Anschutz Aurora, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Kennedy Krieger Institute Baltimore, Johns Hopkins University School of Medicine Baltimore, CHU Pitié-Salpêtrière AP-HP, University of Missouri Columbia (Mizzou), University of Missouri System, Sidra Medicine Doha, Qatar, Children's Hospital of Michigan, Central Michigan University (CMU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki

    المصدر: ISSN: 0022-2593.

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34321324; hal-03998194; https://hal.science/hal-03998194Test; https://hal.science/hal-03998194/documentTest; https://hal.science/hal-03998194/file/HECW2_main_Tables_updated.pdfTest; PUBMED: 34321324

  3. 3
    دورية أكاديمية
  4. 4
    دورية أكاديمية

    المساهمون: Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M. M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D'Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, Ladonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Areli, Mahoney, Maurice J., Maystadt, Isabelle, Mcdougall, Carey, Mcentagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29290338; info:eu-repo/semantics/altIdentifier/wos/WOS:000419305500006; volume:102; issue:1; firstpage:69; lastpage:87; numberofpages:19; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3264121Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040561423; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

  5. 5
    دورية أكاديمية

    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

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

  6. 6
    دورية أكاديمية

    المؤلفون: Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA ( host institution ), Koczkowska, Magdalena ( author ), Chen, Yunjia ( author ), Callens, Tom ( author ), Gomes, Alicia ( author ), Sharp, Angela ( author ), Johnson, Sherrell ( author ), Hsiao, Meng-Chang ( author ), Chen, Zhenbin ( author ), Balasubramanian, Meena ( author ), Barnett, Christopher P. ( author ), Becker, Troy A. ( author ), Ben-Shachar, Shay ( author ), Bertola, Debora R. ( author ), Blakeley, Jaishri O. ( author ), Burkitt-Wright, Emma M.M. ( author ), Callaway, Alison ( author ), Crenshaw, Melissa ( author ), Cunha, Karin S. ( author ), Cunningham, Mitch ( author ), D’Agostino, Maria D. ( author ), Dahan, Karin ( author ), De Luca, Alessandro ( author ), Destrée, Anne ( author ), Dhamija, Radhika ( author ), Eoli, Marica ( author ), Evans, D. Gareth R. ( author ), Galvin-Parton, Patricia ( author ), George-Abraham, Jaya K. ( author ), Gripp, Karen W. ( author ), Guevara-Campos, Jose ( author ), Hanchard, Neil A. ( author ), Hernández-Chico, Concepcion ( author ), Immken, LaDonna ( author ), Janssens, Sandra ( author ), Jones, Kristi J. ( author ), Keena, Beth A. ( author ), Kochhar, Aaina ( author ), Liebelt, Jan ( author ), Martir-Negron, Arelis ( author ), Mahoney, Maurice J. ( author ), Maystadt, Isabelle ( author ), McDougall, Carey ( author ), McEntagart, Meriel ( author ), Mendelsohn, Nancy ( author ), Miller, David T. ( author ), Mortier, Geert ( author ), Morton, Jenny ( author ), Pappas, John ( author ), Plotkin, Scott R. ( author ), Pond, Dinel ( author ), Rosenbaum, Kenneth ( author ), Rubin, Karol ( author ), Russell, Laura ( author ), Rutledge, Lane S. ( author ), Saletti, Veronica ( author ), Schonberg, Rhonda ( author ), Schreiber, Allison ( author ), Seidel, Meredith ( author ), Siqveland, Elizabeth ( author ), Stockton, David W. ( author ), Trevisson, Eva ( author ), Ullrich, Nicole J. ( author ), Upadhyaya, Meena ( author ), van Minkelen, Rick ( author ), Verhelst, Helene ( author ), Wallace, Margaret R. ( UF author ), Yap, Yoon-Sim ( author ), Zackai, Elaine ( author ), Zonana, Jonathan ( author ), Zurcher, Vickie ( author ), Claes, Kathleen ( author ), Martin, Yolanda ( author ), Korf, Bruce R. ( author ), Legius, Eric ( author ), Messiaen, Ludwine M. ( author )

    وصف الملف: Pages

    العلاقة: The American Journal of Human Genetics; S0002929717304901; http://ufdc.ufl.edu/LS00593248/00001Test

  7. 7
    دورية أكاديمية
  8. 8
    دورية أكاديمية

    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

    العلاقة: 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/11386/4744736Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074609550

  9. 9
  10. 10
    دورية