Resultados de búsqueda - Lina Basel

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  1. 1
    The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

    The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation por Lina Basel‐Vanagaite

    Publicado 2005
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  2. 2
    Genotype-phenotype correlation in 22q11.2 deletion syndrome

    Genotype-phenotype correlation in 22q11.2 deletion syndrome por Elena Michaelovsky, Amos Frisch, Miri Carmel, Miriam Patya, Omer Zarchi, Tamar Green, Lina Basel‐Vanagaite, Abraham Weizman, Doron Gothelf

    Publicado 2012
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  3. 3
    Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested

    Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested por Lina Basel‐Vanagaite, Naama Orenstein, Keren Markus‐Bustani, Noa Ruhrman‐Shahar, Yael Kilim, Nurit Magal, Monika Weisz Hubshman, Lily Bazak

    Publicado 2018
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  4. 4
    Bayesian-based noninvasive prenatal diagnosis of single-gene disorders

    Bayesian-based noninvasive prenatal diagnosis of single-gene disorders por Tom Rabinowitz, Avital Polsky, David E. Golan, Artem Danilevsky, Guy Shapira, Chen Raff, Lina Basel‐Vanagaite, Reut Matar, Noam Shomron

    Publicado 2019
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  5. 5
    Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel

    Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel por Hagit Toledano‐Alhadef, Lina Basel‐Vanagaite, Nurit Magal, Bella Davidov, Sophie Ehrlich, Valerie Drasinover, Ellen Taub, Gabrielle J. Halpern, Nathan Ginott, Mordechai Shohat

    Publicado 2001
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  6. 6
    Cut‐off value of nuchal translucency as indication for chromosomal microarray analysis

    Cut‐off value of nuchal translucency as indication for chromosomal microarray analysis por Idit Maya, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifat Agmon-Fishman, Lital Cohen-Vig, M Shohat, Lina Basel‐Vanagaite, Reuven Sharony

    Publicado 2017
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  7. 7
    A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

    A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly por Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel‐Vanagaite, Danielle Gleason, Robert Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

    Publicado 2009
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  8. 8
    Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies

    Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies por Lena Sagi‐Dain, Lital Cohen Vig, Sarit Kahana, Shiri Yacobson, Tamar Tenne, Ifat Agmon-Fishman, Cochava Klein, Reut Matar, Lina Basel‐Salmon, Idit Maya

    Publicado 2019
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  9. 9
    An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21

    An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21 por Xianhua Piao, Lina Basel‐Vanagaite, Rachel Straussberg, P. Ellen Grant, Elizabeth Pugh, Kim Doheny, Betty Doan, Susan E. Hong, Yin Yao Shugart, Christopher A. Walsh

    Publicado 2002
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  10. 10
    Chromosomal microarray analysis in fetuses with aberrant right subclavian artery

    Chromosomal microarray analysis in fetuses with aberrant right subclavian artery por Idit Maya, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Shiri Yacobson, Ifat Agmon-Fishman, Lital Cohen-Vig, Anat Levi, Eyal Reinstein, Lina Basel‐Vanagaite, Reuven Sharony

    Publicado 2016
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  11. 11
    A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis

    A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis por Pola Smirin‐Yosef, Nehama Zuckerman‐Levin, Shay Tzur, Yaron Granot, Lior Cohen, Juliane Sachsenweger, Guntram Borck, Irina Lagovsky, Mali Salmon‐Divon, Lisa Wiesmüller, Lina Basel‐Vanagaite

    Publicado 2016
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  12. 12
    When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

    When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations por Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon‐Fishman, Lital Cohen-Vig, Yael Goldberg, R Berger, Lina Basel‐Salmon, Mordechai Shohat

    Publicado 2017
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  13. 13
    Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6

    Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6 por Andrea Masotti, Paolo Uva, Laura Davis‐Keppen, Lina Basel‐Vanagaite, Lior Cohen, Elisa Pisaneschi, Antonella Celluzzi, Paola Bencivenga, Mingyan Fang, Mingyu Tian, Xun Xu, Marco Cappa, Bruno Dallapiccola

    Publicado 2015
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  14. 14
    Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

    Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase por Lina Basel‐Vanagaite, Revital Attia, Akemi Ishida‐Yamamoto, Limor Rainshtein, Dan Ben Amitai, Raziel Lurie, Metsada Pasmanik‐Chor, Margarita Indelman, Alex Zvulunov, Shirley Saban, Nurit Magal, Eli Sprecher, Mordechai Shohat

    Publicado 2007
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  15. 15
    De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy

    De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy por Lieve Claes, Berten Ceulemans, Dominique Audenaert, Katrien Smets, Ann Löfgren, Jurgen Del‐Favero, Sirpa Ala‐Mello, Lina Basel‐Vanagaite, Barbara Plecko, Salmo Raskin, Paul Thiry, Nicole I. Wolf, Christine Van Broeckhoven, Peter De Jonghe

    Publicado 2003
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  16. 16
    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene por Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel‐Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyürek, Johan T. den Dunnen, Martijn H. Breuning

    Publicado 2010
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  17. 17
    Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype

    Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype por Meena Balasubramanian, Kath Smith, Lina Basel‐Vanagaite, Murray Feingold, Pamela Brock, Gordon C. Gowans, Pradeep Vasudevan, Lara Cresswell, Emma‐Jane Taylor, Civonnia Harris, Neil Friedman, Rocio Moran, Holly Feret, Elaine H. Zackai, Aaron Theisen, Jill A. Rosenfeld, Michael Parker

    Publicado 2011
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  18. 18
    Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

    Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II por M M Hermans, Dik van Leenen, Marian A. Kroos, Clare Beesley, Ans T. van der Ploeg, Hitoshi Sakuraba, Ron A. Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice M. Fletcher, N. U. Bosshard, Lina Basel‐Vanagaite, G. T. N. Besley, Arnold Reuser

    Publicado 2003
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  19. 19
    Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East

    Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East por M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, Robert Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin‐Parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel‐Vanagaite, Mohamed Z. Seidahmed, Mustafa A. Salih, William B. Dobyns, Christopher A. Walsh

    Publicado 2008
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  20. 20
    Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

    Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1 por Lina Basel‐Vanagaite, Noam Zevit, Adi Har Zahav, Liang Guo, Saj Parathath, Metsada Pasmanik‐Chor, Adam D. McIntyre, Jian Wang, Adi Albin‐Kaplanski, Corina Hartman, Daphna Marom, Avraham Zeharia, Abir Badir, Oded Shoerman, Amos J. Simon, Gideon Rechavi, Mordechai Shohat, Robert A. Hegele, Edward A. Fisher, Raanan Shamir

    Publicado 2012
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