المؤلفون: Moffitt, Bridgette, Spencer, Jillian, Benjock, Jennifer, Kearns, Mary, Boccuto, Luigi, Sarasua, Sara, Bennett, William, Ivankovic, Diana, Phelan, Katy, Rogers, Curtis

المصدر: Genetics in Medicine Open ; volume 2, page 101060 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101060
https://api.elsevier.com/content/article/PII:S2949774424002061?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424002061?httpAccept=text/plain

المؤلفون: Srivastava, Siddharth, Sahin, Mustafa, Buxbaum, Joseph, D, Berry‐kravis, Elizabeth, Soorya, Latha, Valluripalli, Thurm, Audrey, Bernstein, Jonathan, A, Asante‐otoo, Afua, Bennett, William, E, Betancur, Catalina, Brickhouse, Tegwyn, H, Passos Bueno, Maria, Rita, Chopra, Maya, Christensen, Celanie, K, Cully, Jennifer, L, Dies, Kira, Friedman, Kate, Gummere, Brittany, Holder, J. Lloyd, Jimenez‐gomez, Andres, Kerins, Carolyn, A, Khan, Omar, Kohlenberg, Teresa, Lacro, Ronald, V, Levi, Lori, A, Levy, Tess, Linnehan, Diane, Eva, Loth, Moshiree, Baharak, Neumeyer, Ann, Paul, Scott, M, Phelan, Katy, Persico, Antonio, Rapaport, Robert, Rogers, Curtis, Saland, Jeffrey, Sethuram, Swathi, Shapiro, Janine, Tarr, Phillip, I, White, Kerry, M, Wickstrom, Jordan, Williams, Kent, M, Winrow, Dana, Wishart, Brian, Kolevzon, Alexander

المساهمون: Department of Neurology, Children's Hospital Boston, Boston Children's Hospital, Harvard Medical School Boston (HMS), Icahn School of Medicine at Mount Sinai New York (MSSM), Rush University Medical Center Chicago, National Institute of Mental Health (NIMH), National Institutes of Health Bethesda, MD, USA (NIH), Stanford University, Indiana University School of Medicine, Indiana University System, Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Virginia Commonwealth University (VCU), Universidade Federal de São Paulo, Riley Children's Hospital at Indiana University Health, University of Cincinnati (UC), Cincinnati Children's Hospital Medical Center, University of Indianapolis, Baylor College of Medicine (BCM), Baylor University, Joe DiMaggio Children's Hospital Florida, USA, Texas A&M University System, National Institute of Neurological Disorders and Stroke Bethesda (NINDS), University of Massachusetts Medical School Worcester (UMASS), University of Massachusetts System (UMASS), University of Southern California (USC), Phelan-McDermid Syndrome Foundation Osprey, FL, USA, King‘s College London, Wake Forest Baptist Medical Center, Massachusetts General Hospital Boston, Florida Cancer Specialists Fort Myers, FL, Università degli Studi di Modena e Reggio Emilia = University of Modena and Reggio Emilia (UNIMORE), RCR Genetics South Carolina, USA, Access Behavior Analysis, Indianapolis, Indiana, USA., Washington University School of Medicine Saint Louis, MO, Mount Sinai School of Medicine, Department of Psychiatry-Icahn School of Medicine at Mount Sinai New York (MSSM), Northeastern Ohio Medical University (NEOMED), Emerson Health, Concord, Massachusetts, USA., National Institute of Neurological Disorders and Stroke of the National Institutes of Health (NINDS), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institute of Mental Health (NIMH), and National Center for Advancing Translational Sciences (NCATS)

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: assessment, autism spectrum disorder, monitoring, Phelan–McDermid syndrome, SHANK3, treatment, gastroenterology, primary care, physiatry, nephrology, endocrinology, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/37392087; PUBMED: 37392087; PUBMEDCENTRAL: PMC10524678

الاتاحة: https://inserm.hal.science/inserm-04719028
https://inserm.hal.science/inserm-04719028v1/document
https://inserm.hal.science/inserm-04719028v1/file/Srivastava%20American%20J%20of%20Med%20Genetics%20Pt%20A%202023.pdf
https://doi.org/10.1002/ajmg.a.63312

المؤلفون: Vitrac, Aline, Leblond, Claire, Rolland, Thomas, Cliquet, Freddy, Alexandre, Mathieu, Maruani, Anna, Delorme, Richard, Schön, Michael, Grabrucker, Andreas, van Ravenswaaij-Arts, Conny, Phelan, Katy, Tabet, Anne-Claude, Bourgeron, Thomas

المساهمون: Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universität Ulm - Ulm University Ulm, Allemagne, University of Limerick (UL), University of Groningen Groningen, Florida Hospital Cancer Institute, This study has been supported by the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA). ERN-ITHACA is partly co-funded by the Health Programme of the European Union. Funding was also obtained from the European Union's Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575. This work was also funded by Institut Pasteur, the Bettencourt-Schueller Foundation, Université de Paris Cité, the Eranet-Neuron (ALTRUISM), the Association Française du Syndrome Phelan-mcDermid and the Association Téhani et les enfants Phelan-McDermid, the GenMed Labex, AIMS-2-TRIALS which received support from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement N° 777394 and the INCEPTION program (Investissement d’Avenir grant ANR-16-CONV-0005). This project has received funding from the European Union's Horizon 2020 research and innovative program CANDY under grant agreement N° 847818., ANR-10-LABX-0013,GENMED,Medical Genomics(2010), ANR-16-CONV-0005,INCEPTION,Institut Convergences pour l'étude de l'Emergence des Pathologies au Travers des Individus et des populatiONs(2016), European Project: 825575,COFUND-EJP, European Project: 777394,H2020-JTI-IMI2-2016-10-two-stage,AIMS-2-TRIALS(2018)

المصدر: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://pasteur.hal.science/pasteur-04119437 ; European Journal of Medical Genetics, 2023, 66 (5), pp.104732. ⟨10.1016/j.ejmg.2023.104732⟩.

مصطلحات موضوعية: Phelan-McDermid syndrome, Neurodevelopmental disorders, Autism, Epilepsy, Brain development, SHANK3, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/36822569; info:eu-repo/grantAgreement//825575/EU/European Joint Programme on Rare Diseases/COFUND-EJP; info:eu-repo/grantAgreement//777394/EU/Autism Innovative Medicine Studies-2-Trials/AIMS-2-TRIALS; pasteur-04119437; https://pasteur.hal.science/pasteur-04119437; https://pasteur.hal.science/pasteur-04119437/document; https://pasteur.hal.science/pasteur-04119437/file/1-s2.0-S1769721223000381-main.pdf; PUBMED: 36822569

الاتاحة: https://pasteur.hal.science/pasteur-04119437
https://pasteur.hal.science/pasteur-04119437/document
https://pasteur.hal.science/pasteur-04119437/file/1-s2.0-S1769721223000381-main.pdf
https://doi.org/10.1016/j.ejmg.2023.104732

المؤلفون: Moffitt, Bridgette A., Sarasua, Sara M., Ivankovic, Diana, Ward, Linda D., Valentine, Kathleen, Bennett, William E., Jr., Rogers, Curtis, Phelan, Katy, Boccuto, Luigi

المساهمون: Pediatrics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: 22q13.3 deletion syndrome, IGF-1, PMS, Phelan–McDermid syndrome, SHANK3, Growth hormone, hGH, Insulin-like growth factor 1

وصف الملف: application/pdf

Relation: Genes; Moffitt BA, Sarasua SM, Ivankovic D, et al. Stratification of a Phelan-McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor. Genes (Basel). 2023;14(2):490. Published 2023 Feb 15. doi:10.3390/genes14020490; https://hdl.handle.net/1805/36679

الاتاحة: https://hdl.handle.net/1805/36679

المؤلفون: Smith, Marie S., Sarasua, Sara M., Rogers, Curtis, Phelan, Katy, Boccuto, Luigi

المصدر: Clinical Genetics ; volume 104, issue 4, page 472-478 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14364
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14364

المؤلفون: Moffitt, Bridgette A., Oberman, Lindsay M., Beamer, Laura, Srikanth, Sujata, Jain, Lavanya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, May, Melanie, Skinner, Cindy, Buchanan, Caroline, DuPont, Barbara R., Kaufmann, Walter E., Valentine, Kathleen, Ward, Linda D., Ivankovic, Diana, Rogers, R. Curtis, Phelan, Katy, Sarasua, Sara M., Boccuto, Luigi

المساهمون: Greenwood Genetic Center Foundation

المصدر: Clinical Genetics ; volume 104, issue 2, page 198-209 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14361
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14361

المؤلفون: Phelan, Katy

المصدر: Human Ring Chromosomes ; page 301-335 ; ISBN 9783031475290 9783031475306

الاتاحة: http://dx.doi.org/10.1007/978-3-031-47530-6_26
https://link.springer.com/content/pdf/10.1007/978-3-031-47530-6_26

المؤلفون: Phelan, Katy, Boccuto, Luigi, Powell, Craig, M, Boeckers, Tobias, M, van Ravenswaaij-Arts, Conny, Rogers, R. Curtis, Sala, Carlo, Verpelli, Chiara, Thurm, Audrey, Bennett, William, E, Winrow, Christopher, J, Garrison, Sheldon, R, Toro, Roberto, Bourgeron, Thomas

المساهمون: Florida Cancer Specialists Fort Myers, FL, Clemson University, University of Alabama at Birmingham Birmingham (UAB), Universität Ulm - Ulm University Ulm, Allemagne, University of Groningen Groningen, The Greenwood Genetic Center, Istituto di Neuroscienze - Institute of Neuroscience Milan, Italy (CNR), Università degli Studi di Milano = University of Milan (UNIMI)-Consiglio Nazionale delle Ricerche Milano (CNR), National Institute of Mental Health (NIMH), National Institutes of Health Bethesda, MD, USA (NIH), Indiana University School of Medicine, Indiana University System, Cyclerion Therapeutics Cambridge, MA, Rogers Behavioral Health Oconomowoc, WI, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), No funding sources were utilized in the preparation of this article

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://pasteur.hal.science/pasteur-04069481 ; Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.27. ⟨10.1186/s13023-022-02180-5⟩.

مصطلحات موضوعية: Phelan-McDermid syndrome PMS SHANK3 22q13 deletion, Phelan-McDermid syndrome, PMS, SHANK3, 22q13 deletion, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35093143; pasteur-04069481; https://pasteur.hal.science/pasteur-04069481; https://pasteur.hal.science/pasteur-04069481/document; https://pasteur.hal.science/pasteur-04069481/file/s13023-022-02180-5.pdf; PUBMED: 35093143; PUBMEDCENTRAL: PMC8800328

الاتاحة: https://pasteur.hal.science/pasteur-04069481
https://pasteur.hal.science/pasteur-04069481/document
https://pasteur.hal.science/pasteur-04069481/file/s13023-022-02180-5.pdf
https://doi.org/10.1186/s13023-022-02180-5

المؤلفون: Boccuto, Luigi, Mitz, Andrew, Abenavoli, Ludovico, Sarasua, Sara M., Bennett, William, Rogers, Curtis, DuPont, Barbara, Phelan, Katy

المساهمون: Pediatrics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: 22q13 deletion, Phelan–McDermid syndrome, Epigenetics, Haploinsufficiency, Pharmacogenomics, Phenotypic variability

وصف الملف: application/pdf

Relation: Genes; Boccuto L, Mitz A, Abenavoli L, et al. Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors. Genes (Basel). 2022;13(3):528. Published 2022 Mar 17. doi:10.3390/genes13030528; https://hdl.handle.net/1805/33008

الاتاحة: https://hdl.handle.net/1805/33008

المؤلفون: Moffitt, Bridgette A., Sarasua, Sara M., Ward, Linda, Ivankovic, Diana, Valentine, Kathleen, Rogers, Curtis, Phelan, Katy, Boccuto, Luigi

المصدر: Molecular Genetics & Genomic Medicine ; volume 10, issue 10 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.2035
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2035
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.2035

المؤلفون: Srikanth, Sujata, Jain, Lavanya, Zepeda-Mendoza, Cinthya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, DuPont, Barb, Rogers, Curtis, Sarasua, Sara, Phelan, Katy, Morton, Cynthia, Boccuto, Luigi

المساهمون: Bardoni, Barbara, Greenwood Genetic Center Foundation, Hope for 22q13 Gala, Clemson University

المصدر: PLOS ONE ; volume 16, issue 7, page e0253859 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0253859
https://dx.plos.org/10.1371/journal.pone.0253859

المؤلفون: McCoy, Megan D., Sarasua, Sara M., DeLuca, Jane M., Davis, Stephanie, Rogers, R. Curtis, Phelan, Katy, Boccuto, Luigi

المصدر: Pediatric Nephrology; Mar2024, Vol. 39 Issue 3, p749-760, 12p

مصطلحات موضوعية: REPORTING of diseases, TELOMERES, CROSS-sectional method, HYPERTROPHY, KIDNEY stones, GENETIC testing, HYDRONEPHROSIS, KIDNEY diseases, RISK assessment, CHROMOSOME abnormalities, GENITOURINARY organ abnormalities, VESICO-ureteral reflux, GENOMICS, CYSTIC kidney disease, RARE diseases, DISEASE risk factors, DISEASE complications

المؤلفون: Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M. H. F., Brilstra, Eva H., Brown, Chester W., Bruggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B. A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Mendoza, Cinthya J. Zepeda, Menten, Bjorn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Pina Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L. P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M. L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.

المصدر: Redin , C , Brand , H , Collins , R L , Kammin , T , Mitchell , E , Hodge , J C , Hanscom , C , Pillalamarri , V , Seabra , C M , Abbott , M-A , Abdul-Rahman , O A , Aberg , E , Adley , R , Alcaraz-Estrada , S L , Alkuraya , F S , An , Y , Anderson , M-A , Antolik , C , Anyane-Yeboa , K , Atkin , J F , Bartell , T , Bernstein , J A , Beyer , E ....

مصطلحات موضوعية: AUTISM SPECTRUM DISORDER, DE-NOVO MUTATIONS, SEVERE MENTAL-RETARDATION, OF-FUNCTION MUTATIONS, MICRODELETION SYNDROME, CHROMOSOME REARRANGEMENTS, INTELLECTUAL DISABILITY, STRUCTURAL VARIATION, DEVELOPMENTAL DELAY, CANCER GENOMES

الاتاحة: https://hdl.handle.net/11370/2cc769f3-7d83-4416-86f5-f75f2161ded9
https://research.rug.nl/en/publications/2cc769f3-7d83-4416-86f5-f75f2161ded9
https://doi.org/10.1038/ng.3720
http://europepmc.org/articles/pmc5307971?pdf=render

المؤلفون: McCoy, Megan, Sarasua, Sara M., DeLuca, Jane M., Davis, Stephanie, Phelan, Katy, Rogers, Roger Curtis, Boccuto, Luigi

المصدر: Open Access Publishing Fund

مصطلحات موضوعية: Phelan-McDermid syndrome, 22q13.3 deletion syndrome, kidney disorders, urogenital anomalies

وصف الملف: application/pdf

Relation: https://tigerprints.clemson.edu/oa_fund/15; https://tigerprints.clemson.edu/cgi/viewcontent.cgi?article=1014&context=oa_fund

الاتاحة: https://tigerprints.clemson.edu/oa_fund/15
https://tigerprints.clemson.edu/cgi/viewcontent.cgi?article=1014&context=oa_fund

المؤلفون: Phelan, Katy

المصدر: Developmental Medicine & Child Neurology ; volume 65, issue 7, page 862-863 ; ISSN 0012-1622 1469-8749

الاتاحة: http://dx.doi.org/10.1111/dmcn.15500
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.15500
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/dmcn.15500

المؤلفون: Sarasua, Sara M., DeLuca, Jane M., Rogers, Curtis, Phelan, Katy, Rennert, Lior, Powder, Kara E., Weisensee, Katherine, Boccuto, Luigi

المصدر: Genes; Mar2023, Vol. 14 Issue 3, p540, 15p

مصطلحات موضوعية: LITERATURE reviews, NEURAL development, GENES, SYNDROMES, HEAD, AUTOMATIC speech recognition

المؤلفون: Dyar, Briana, Meaddough, Erika, Sarasua, Sara M., Rogers, Curtis, Phelan, Katy, Boccuto, Luigi

المصدر: Open Access Publishing Fund

مصطلحات موضوعية: Phelan-McDermid syndrome, autism, therapy, CYP2D6, SHANK3

وصف الملف: application/pdf

Relation: https://tigerprints.clemson.edu/oa_fund/14; https://tigerprints.clemson.edu/cgi/viewcontent.cgi?article=1013&context=oa_fund

الاتاحة: https://tigerprints.clemson.edu/oa_fund/14
https://tigerprints.clemson.edu/cgi/viewcontent.cgi?article=1013&context=oa_fund

المؤلفون: Jain, Lavanya, Oberman, Lindsay M., Beamer, Laura, Cascio, Lauren, May, Melanie, Srikanth, Sujata, Skinner, Cindy, Jones, Kelly, Allen, Bridgette, Rogers, Curtis, Phelan, Katy, Kaufmann, Walter E., DuPont, Barbara, Sarasua, Sara M., Boccuto, Luigi

المصدر: Clinical Genetics ; volume 101, issue 1, page 87-100 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14074
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14074
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.14074

المؤلفون: Sarasua, Sara M., Dwivedi, Alka, Boccuto, Luigi, Chen, Chin-Fu, Sharp, Julia L., Rollins, Jonathan D., Collins, Julianne S., Rogers, R. Curtis, Phelan, Katy, DuPont, Barbara R.

المصدر: Genetics in Medicine ; volume 16, issue 4, page 318-328 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2013.144
http://www.nature.com/articles/gim2013144.pdf
http://www.nature.com/articles/gim2013144
https://api.elsevier.com/content/article/PII:S109836002101724X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002101724X?httpAccept=text/plain

المؤلفون: Phelan, Katy, Betancur, Catalina

المساهمون: Molecular Pathology Laboratory Network Maryville, TN, USA (MPLN), Physiopathologie des Maladies du Système Nerveux Central, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: MESH: Carrier Proteins, MESH: Chromosome Deletion, MESH: Chromosome Disorders, MESH: Chromosomes, Human, Pair 22, MESH: Genetic Testing, MESH: Humans, MESH: Monosomy, MESH: Nerve Tissue Proteins, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/21150887; inserm-03135344; https://inserm.hal.science/inserm-03135344; https://inserm.hal.science/inserm-03135344/document; https://inserm.hal.science/inserm-03135344/file/Phelan%20EJHG%202011.pdf; PUBMED: 21150887; PUBMEDCENTRAL: PMC3060317

الاتاحة: https://inserm.hal.science/inserm-03135344
https://inserm.hal.science/inserm-03135344/document
https://inserm.hal.science/inserm-03135344/file/Phelan%20EJHG%202011.pdf
https://doi.org/10.1038/ejhg.2010.193