نتائج البحث - "Schilit, Samantha l p"

1

دورية أكاديمية

Genome-wideãssociation study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

المؤلفون: Mbarek, Hamdi, Gordon, Scott D., Duffy, David L., Hubers, Nikki, Mortlock, Sally, Beck, Jeffrey J., Hottenga, Jouke-Jan, Pool, René, Dolan, Conor V., Actkins, Ky'Era V., Gerring, Zachary F., van Dongen, Jenny, Ehli, Erik A., Iacono, William G., Mcgue, Matt, Chasman, Daniel I., Gallagher, C. Scott, Schilit, Samantha L. P., Morton, Cynthia C., Paré, Guillaume, Willemsen, Gonneke, Whiteman, David C., Olsen, Catherine M., Derom, Catherine, Vlietinck, Robert, Gudbjartsson, Daniel, Cannon-Albright, Lisa, Krapohl, Eva, Plomin, Robert, Magnusson, Patrik K. E., Pedersen, Nancy L., Hysi, Pirro, Mangino, Massimo, Spector, Timothy D., Palviainen, Teemu, Milaneschi, Yuri, Penninx, Brenda W., Campos, Adrian I., Ong, Ken K., Perry, John R. B., Lambalk, Cornelis B., Kaprio, Jaakko, Ólafsson, Ísleifur, Duroure, Karine, Revenu, C. line, Rentería, Miguel E., Yengo, Loic, Davis, Lea, Derks, Eske M., Medland, Sarah E., Stefansson, Hreinn, Stefansson, Kari, del Bene, Filippo, Reversade, Bruno, Montgomery, Grant W., Boomsma, Dorret I., Martin, Nicholas G.

المصدر: Mbarek , H , Gordon , S D , Duffy , D L , Hubers , N , Mortlock , S , Beck , J J , Hottenga , J-J , Pool , R , Dolan , C V , Actkins , KE V , Gerring , Z F , van Dongen , J , Ehli , E A , Iacono , W G , Mcgue , M , Chasman , D I , Gallagher , C S , Schilit , S L P , Morton , C C , Paré , G , Willemsen , G , Whiteman ....

العلاقة: https://research.vumc.nl/en/publications/deb14c81-edaa-4bbc-90a2-306403aefce8Test

الإتاحة: https://doi.org/10.1093/humrep/dead247Test
https://research.vumc.nl/en/publications/deb14c81-edaa-4bbc-90a2-306403aefce8Test
http://www.scopus.com/inward/record.url?scp=85181387330&partnerID=8YFLogxKTest

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2

دورية أكاديمية

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

المؤلفون: Mbarek, Hamdi, Gordon, Scott D, Duffy, David l, Hubers, Nikki, Mortlock, Sally, Beck, Jeffrey J, Hottenga, Jouke-Jan, Pool, René, Dolan, Conor V, Actkins, Ky’era V, Gerring, Zachary f, Van dongen, Jenny, Ehli, Erik a, Iacono, William g, Mcgue, Matt, Chasman, Daniel i, Gallagher, C scott, Schilit, Samantha l p, Morton, Cynthia c, Paré, Guillaume, Willemsen, Gonneke, Whiteman, David c, Olsen, Catherine m, Derom, Catherine, Vlietinck, Robert, Gudbjartsson, Daniel, Cannon-Albright, Lisa, Krapohl, Eva, Plomin, Robert, Magnusson, Patrik k e, Pedersen, Nancy l, Hysi, Pirro, Mangino, Massimo, Spector, Timothy d, Palviainen, Teemu, Milaneschi, Yuri, Penninnx, Brenda w, Campos, Adrian i, Ong, Ken k, Perry, John r b, Lambalk, Cornelis b, Kaprio, Jaakko, Ólafsson, Ísleifur, Duroure, Karine, Revenu, Céline, Rentería, Miguel e, Yengo, Loic, Davis, Lea, Derks, Eske m, Medland, Sarah e, Stefansson, Hreinn, Stefansson, Kari, Del bene, Filippo, Reversade, Bruno, Montgomery, Grant W, Boomsma, Dorret I, Martin, Nicholas G

المصدر: Mbarek , H , Gordon , S D , Duffy , D L , Hubers , N , Mortlock , S , Beck , J J , Hottenga , J-J , Pool , R , Dolan , C V , Actkins , K V , Gerring , Z F , Van dongen , J , Ehli , E A , Iacono , W G , Mcgue , M , Chasman , D I , Gallagher , C S , Schilit , S L P , Morton , C C , Paré , G , Willemsen , G , Whiteman ....

الإتاحة: https://doi.org/10.1093/humrep/dead247Test
https://kclpure.kcl.ac.uk/portal/en/publications/660ef9ed-f23b-4e38-8166-0564bf3b687dTest
http://www.scopus.com/inward/record.url?scp=85181387330&partnerID=8YFLogxKTest

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3

دورية أكاديمية

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.

المصدر: Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:3

مصطلحات موضوعية: Association studies, Clinical disease risk assessment, Penetrance, Risk allele, Variant classification

العلاقة: https://doi.org/10.1016/j.gim.2023.101036Test; https://pubmed.ncbi.nlm.nih.gov/38054408Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10939896Test/

الإتاحة: https://doi.org/10.1016/j.gim.2023.101036Test
https://pubmed.ncbi.nlm.nih.gov/38054408Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10939896Test/

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4

دورية أكاديمية

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity.

المصدر: Human Reproduction; Jan2024, Vol. 39 Issue 1, p240-257, 18p

مصطلحات موضوعية: OVULATION, GENETIC regulation, GENOME-wide association studies, TWINS, FERTILITY, LOCUS (Genetics), DISEASE risk factors

الشركة/الكيان: NATIONAL Institutes of Health (U.S.)

5

دورية أكاديمية

Chromosomal Microarray Analysis in Pregnancy Loss: Is It Time for a Consensus Approach?

المؤلفون: Schilit, Samantha L. P., Studwell, Courtney, Flatley, Pamela, Listewnik, Marc, Mertens, Lauren, Ligon, Azra H., Mason-Suares, Heather

المصدر: Obstetrical & Gynecological Survey ; volume 78, issue 5, page 264-266 ; ISSN 1533-9866 0029-7828

الإتاحة: https://doi.org/10.1097/01.ogx.0000935832.81964.98Test

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6

دورية أكاديمية

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

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

العلاقة: https://research.rug.nl/en/publications/2cc769f3-7d83-4416-86f5-f75f2161ded9Test

الإتاحة: https://doi.org/10.1038/ng.3720Test
https://hdl.handle.net/11370/2cc769f3-7d83-4416-86f5-f75f2161ded9Test
https://research.rug.nl/en/publications/2cc769f3-7d83-4416-86f5-f75f2161ded9Test
http://europepmc.org/articles/pmc5307971?pdf=renderTest

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7

دورية أكاديمية

Chromosomal microarray analysis in pregnancy loss: Is it time for a consensus approach?

المؤلفون: Schilit, Samantha L. P., Studwell, Courtney, Flatley, Pamela, Listewnik, Marc, Mertens, Lauren, Ligon, Azra H., Mason‐Suares, Heather

المصدر: Prenatal Diagnosis; Nov2022, Vol. 42 Issue 12, p1545-1553, 9p

8

دورية أكاديمية

BNC1 Promotes Spermatogenesis by Regulating Transcription of Ybx2 and Papolb via Direct Binding to Their Promotor Elements

المؤلفون: Li, Jing-Yi, Ying, Yan-Yun, Qian, Yu-Li, Chen, Jian-Peng, Huang, Yun, Liu, Juan, Lv, Ping-Ping, Liu, Yi-Feng, Hu, Xiao-Ling, Schilit, Samantha L. P., Sheng, Jian-Zhong, Huang, He-Feng, Zhang, Dan

المساهمون: National Basic Research Program of China, National Natural Science Foundation of China, Natural Science Foundation of Zhejiang Province

المصدر: Reproductive Sciences ; volume 28, issue 3, page 785-793 ; ISSN 1933-7191 1933-7205

مصطلحات موضوعية: Obstetrics and Gynecology

الإتاحة: https://doi.org/10.1007/s43032-020-00342-zTest

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