المؤلفون: Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun‐Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, Biesecker, Leslie G

المصدر: Human Mutation. 31(10)

مصطلحات موضوعية: Genetics, Dental/Oral and Craniofacial Disease, Pediatric, Clinical Research, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Craniofacial Abnormalities, Genotype, Humans, Kruppel-Like Transcription Factors, Mouth Abnormalities, Mutation, Nerve Tissue Proteins, Pallister-Hall Syndrome, Phenotype, Polydactyly, Syndactyly, Zinc Finger Protein Gli3, GLI3, Greig syndrome, Pallister-Hall syndrome, oral-facial-digital syndrome, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6z17j09nTest

المؤلفون: Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas

المصدر: The American Journal of Human Genetics ; volume 93, issue 5, page 798-811 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.09.010Test
https://api.elsevier.com/content/article/PII:S0002929713004230?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0002929713004230?httpAccept=text/xmlTest

المؤلفون: Ng, Bobby G., Hackmann, Karl, Jones, Melanie A., Eroshkin, Alexey M., He, Ping, Wiliams, Roy, Bhide, Shruti, Cantagrel, Vincent, Gleeson, Joseph G., Paller, Amy S., Schnur, Rhonda E., Tinschert, Sigrid, Zunich, Janice, Hegde, Madhuri R., Freeze, Hudson H.

المصدر: The American Journal of Human Genetics ; volume 90, issue 4, page 685-688 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.02.010Test
https://api.elsevier.com/content/article/PII:S000292971200095X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292971200095X?httpAccept=text/plainTest

المؤلفون: Hong, Bo, Zunich, Janice, Openshaw, Amanda, Toydemir, Reha M.

المصدر: American Journal of Medical Genetics Part A ; volume 173, issue 6, page 1681-1686 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.38194Test

المؤلفون: Hong, Bo, Zunich, Janice, Openshaw, Amanda, Toydemir, Reha

المصدر: Cancer Genetics ; volume 209, issue 5, page 247 ; ISSN 2210-7762

مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.cancergen.2016.05.057Test
https://api.elsevier.com/content/article/PII:S2210776216301557?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2210776216301557?httpAccept=text/plainTest

المؤلفون: Zunich, Janice, Esterly, Nancy

المصدر: Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes ; page 949-955 ; ISBN 9783211213964 9783211695005

الإتاحة: https://doi.org/10.1007/978-3-211-69500-5_64Test

المؤلفون: Gal, Moran, Kidd, Alexa M. J., Kimonis, Virginia, Lin, Angela E., Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H., Rope, Alan F., Rosenbaum, Kenneth N., Schaefer, G. Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J., Steiner, Bernhard, Stephan, Mark J., Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun-Hui, Van Allen, Margot I., Vasudevan, Pradeep C., Zabel, Bernhard, Zunich, Janice, Black, Graeme C. M., Biesecker, Leslie G., Kayserili, Hulya, Johnston, Jennifer J., Sapp, Julie C., Turner, Joyce T., Amor, David, Aftimos, Salim, Aleck, Kyrieckos A., Bocian, Maureen, Bodurtha, Joann N., Cox, Gerald F., Curry, Cynthia J., Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Graham, John M., Hedera, Peter, Hennekam, Raoul C. M., Hersh, Joseph H., Hopkin, Robert J.

المساهمون: National Institutes of Health (NIH) - USA ,, 197889

مصطلحات موضوعية: Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Temel Bilimler, GENETİK VE HAYAT

العلاقة: HUMAN MUTATION; Johnston J. J. , Sapp J. C. , Turner J. T. , Amor D., Aftimos S., Aleck K. A. , Bocian M., Bodurtha J. N. , Cox G. F. , Curry C. J. , et al., "Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations", HUMAN MUTATION, cilt.31, ss.1142-1154, 2010; av_88c5caf1-2ba4-448c-bf42-abd4f5ada197; vv_1032021; http://hdl.handle.net/20.500.12627/92787Test; https://doi.org/10.1002/humu.21328Test; 31; 10; 1142; 1154

الإتاحة: https://doi.org/20.500.12627/92787Test
https://doi.org/10.1002/humu.21328Test
https://hdl.handle.net/20.500.12627/92787Test

المؤلفون: Schlade‐Bartusiak, Kamilla, Macintyre, Georgina, Zunich, Janice, Cox, Diane W.

المصدر: American Journal of Medical Genetics Part A ; volume 146A, issue 1, page 117-123 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.32064Test

المؤلفون: Yelavarthi, Krishna K., Zunich, Janice

المصدر: American Journal of Medical Genetics Part A ; volume 126A, issue 4, page 423-426 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.20610Test

المؤلفون: Tassone, Flora, Longshore, John, Zunich, Janice, Steinbach, Peter, Salat, Ulrike, Taylor, Annette K

المصدر: Clinical Genetics ; volume 55, issue 5, page 346-352 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1034/j.1399-0004.1999.550508.xTest