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1دورية أكاديمية
المؤلفون: Mackley, Michael, Silver, Rachel, Watkins, Nicholas, Greenfeld, Elena, Redmond, Sarah, Zhang, Hui Jue, Roifman, Maian, Chitayat, David
المصدر: Genetics in Medicine Open ; volume 2, page 101712 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101712Test
https://api.elsevier.com/content/article/PII:S2949774424008586?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424008586?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Li, Angela, Mehra, Vrati M., Jones, Claire, Selk, Amanda, Ray, Joel, Morson, Natalie, Cohen, Eyal, Roifman, Maian, Snelgrove, John W., Greenblatt, Ellen M.
المصدر: Journal of Obstetrics and Gynaecology Canada ; volume 46, issue 6, page 102417 ; ISSN 1701-2163
مصطلحات موضوعية: Obstetrics and Gynecology
الإتاحة: https://doi.org/10.1016/j.jogc.2024.102417Test
https://api.elsevier.com/content/article/PII:S1701216324001993?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1701216324001993?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Hughes, Joel, Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise, Grange, Dorothy, Berger, Seth, Payne, Katelyn, Masser-Frye, Diane, Hu, Tommy, Christie, Michelle, Clegg, Nancy, Everson, Joshua, Martinez, Ariel, Walsh, Laurence, Bedoukian, Emma, Jones, Marilyn, Harris, Catharine, Riedhammer, Korbinian, Choukair, Daniela, Fechner, Patricia, Rutter, Meilan, Hufnagel, Sophia, Roifman, Maian, Kletter, Gad, Delot, Emmanuele, Vilain, Eric, Lipinski, Robert, Vezina, Chad, Muenke, Maximilian, Chitayat, David
المصدر: American Journal of Human Genetics. 106(1)
مصطلحات موضوعية: MYPT1, PPP1R12A, disorders of sex development, embryogenesis, encephalocele, facial dysmorphism, forebrain, holoprosencephaly, hypospadias, omphalocele, Abnormalities, Multiple, Adolescent, Child, Child, Preschool, Disorders of Sex Development, Female, Gestational Age, Holoprosencephaly, Humans, Male, Mutation, Myosin-Light-Chain Phosphatase, Phenotype, Pregnancy, Urogenital Abnormalities
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0vd729srTest
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4دورية أكاديمية
المؤلفون: Moran, Olivia M., Flamenbaum, Kayla, Myles Reid, Diane, McCuaig, Jeanna M., Babul-Hirji, Riyana, Chitayat, David, Roifman, Maian
المصدر: F&S Reports ; volume 4, issue 4, page 353-360 ; ISSN 2666-3341
مصطلحات موضوعية: Obstetrics and Gynecology, Reproductive Medicine, Embryology
الإتاحة: https://doi.org/10.1016/j.xfre.2023.08.006Test
https://api.elsevier.com/content/article/PII:S2666334123000855?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666334123000855?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Yang, Liying, Shannon, Patrick, Silver, Rachel, Roifman, Maian, Yates, Carin, Chitayat, David
المصدر: Prenatal Diagnosis; May2024, Vol. 44 Issue 5, p653-656, 4p
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6دورية أكاديمية
المؤلفون: Roifman, Maian, Niles, Kirsten M, MacNeil, Lauren, Blaser, Susan, Noor, Abdul, Godoy, Ruth, van Mieghem, Tim, Ryan, Greg, Seaward, Gareth, Sondheimer, Neal, Mercimek-Andrews, Saadet, Schulze, Andreas, Hewson, Stacy, Ovadia, Adi, Chitayat, David, Morgen, Eric K, Hojilla, Carlo, Kolomietz, Elena, Watkins, Nicholas, Häberle, Johannes, Shannon, Patrick
المصدر: Roifman, Maian; Niles, Kirsten M; MacNeil, Lauren; Blaser, Susan; Noor, Abdul; Godoy, Ruth; van Mieghem, Tim; Ryan, Greg; Seaward, Gareth; Sondheimer, Neal; Mercimek-Andrews, Saadet; Schulze, Andreas; Hewson, Stacy; Ovadia, Adi; Chitayat, David; Morgen, Eric K; Hojilla, Carlo; Kolomietz, Elena; Watkins, Nicholas; Häberle, Johannes; Shannon, Patrick (2020). Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency. Clinical Genetics, 98(6):613-619.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/197316/1/ZORA197316.pdfTest; info:pmid/32888207; urn:issn:0009-9163
الإتاحة: https://doi.org/10.5167/uzh-19731610.1111/cge.13844Test
https://www.zora.uzh.ch/id/eprint/197316Test/
https://www.zora.uzh.ch/id/eprint/197316/1/ZORA197316.pdfTest -
7دورية
المؤلفون: Stanley, Kaitlin J., Kalbfleisch, Kelsey J., Moran, Olivia M., Chaturvedi, Rajiv R., Roifman, Maian, Chen, Xin, Manshaei, Roozbeh, Martin, Nicole, McDermott, Simina, McNiven, Vanda, Myles-Reid, Diane, Nield, Lynne E., Reuter, Miriam S., Schwartz, Marci L. B., Shannon, Patrick, Silver, Rachel, Somerville, Cherith, Teitelbaum, Ronni, Zahavich, Laura, Bassett, Anne S., Kim, Raymond H., Mital, Seema, Chitayat, David, Jobling, Rebekah K.
المصدر: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p
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8دورية أكاديمية
المؤلفون: Ashwal, Eran, Blaser, Susan, Leckie, Ashley, Kajal, Dilkash, Krishnan, Pradeep, Chong, Karen, Roifman, Maian, Toi, Ants, Chitayat, David
المصدر: Prenatal Diagnosis ; volume 43, issue 6, page 756-762 ; ISSN 0197-3851 1097-0223
الإتاحة: https://doi.org/10.1002/pd.6344Test
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9دورية أكاديمية
المؤلفون: van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, de Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, H. lya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
المصدر: van der Sluijs , P J , Jansen , S , Vergano , S A , Adachi-Fukuda , M , Alanay , Y , AlKindy , A , Baban , A , Bayat , A , Beck-Wödl , S , Berry , K , Bijlsma , E K , Bok , L A , Brouwer , A F J , van der Burgt , I , Campeau , P M , Canham , N , Chrzanowska , K , Chu , Y W Y , Chung , B H Y , Dahan , K , de Rademaeker , M ....
الإتاحة: https://doi.org/10.1038/s41436-018-0368-yTest
https://doi.org/10.1038/s41436-018-0330-zTest
https://research.vumc.nl/en/publications/3464a7d7-8407-4e20-9531-0a0ee220fbbdTest
http://www.scopus.com/inward/record.url?scp=85060910177&partnerID=8YFLogxKTest -
10دورية أكاديمية
المؤلفون: van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Woedl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hulya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, Lopez-Gonzalez, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
المصدر: van der Sluijs , P J , Jansen , S , Vergano , S A , Adachi-Fukuda , M , Alanay , Y , AlKindy , A , Baban , A , Bayat , A , Beck-Woedl , S , Berry , K , Bijlsma , E K , Bok , L A , Brouwer , A F J , van der Burgt , I , Campeau , P M , Canham , N , Chrzanowska , K , Chu , Y W Y , Chung , B H Y , Dahan , K , De Rademaeker , M ....
مصطلحات موضوعية: ARID1B, Coffin-Siris syndrome, intellectual disability, bias, CHROMATIN-REMODELING COMPLEX, MUTATIONS, PHENOTYPE
الإتاحة: https://doi.org/10.1038/s41436-018-0330-zTest
https://cris.maastrichtuniversity.nl/en/publications/980f5080-cc7d-4a61-adef-3f4f8b266bafTest
