Søgeresultater - Vardiella Meiner

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  1. 1
    Fetal exome sequencing: yield and limitations in a tertiary referral center

    Fetal exome sequencing: yield and limitations in a tertiary referral center af Hagit Daum, Vardiella Meiner, Orly Elpeleg, Tamar Harel

    Udgivet 2018
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  2. 2
    A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

    A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair af Ronny Alcalai, Shulamit Metzger, Shimon Rosenheck, Vardiella Meiner, Tova Chajek-Shaul

    Udgivet 2003
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  3. 3
    Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy

    Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy af Israela Lerer, Michal Sagi, Vardiella Meiner, Tirza Cohen, Joël Zlotogora, Dvorah Abeliovich

    Udgivet 2005
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  4. 4
    On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase

    On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase af Ann Båvner, Marjan Shafaati, Magnus Hansson, Maria Olin, Shoshi Shpitzen, Vardiella Meiner, Eran Leitersdorf, Ingemar Björkhem

    Udgivet 2010
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  5. 5
    On the regulatory role of side-chain hydroxylated oxysterols in the brain. Lessons from CYP27A1 transgenic and Cyp27a1−/− mice

    On the regulatory role of side-chain hydroxylated oxysterols in the brain. Lessons from CYP27A1 transgenic and Cyp27a1−/− mice af Zeina Ali, Maura Heverin, Maria Olin, Jure Ačimovič, Anita Lövgren‐Sandblom, Marjan Shafaati, Ann Båvner, Vardiella Meiner, Eran Leitersdorf, Ingemar Björkhem

    Udgivet 2013
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  6. 6
    Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.

    Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. af Eran Leitersdorf, Ayeleth Reshef, Vardiella Meiner, R. Levitzki, S Schwartz, Eldad J. Dann, Neville Berkman, James J. Cali, Laurent Klapholz, V M Berginer

    Udgivet 1993
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  7. 7
    Associations of Maternal Prepregnancy Body Mass Index and Gestational Weight Gain With Adult Offspring Cardiometabolic Risk Factors

    Associations of Maternal Prepregnancy Body Mass Index and Gestational Weight Gain With Adult Offspring Cardiometabolic Risk Factors af Hagit Hochner, Yechiel Friedlander, Ronit Calderon‐Margalit, Vardiella Meiner, Yael Wolff Sagy, Meytal Avgil-Tsadok, Ayala Burger, Bella Savitsky, David S. Siscovick, Orly Manor

    Udgivet 2012
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  8. 8
    Disruption of the acyl-CoA:cholesterol acyltransferase gene in mice: Evidence suggesting multiple cholesterol esterification enzymes in mammals

    Disruption of the acyl-CoA:cholesterol acyltransferase gene in mice: Evidence suggesting multiple cholesterol esterification enzymes in mammals af Vardiella Meiner, Sylvaine Cases, Heather Myers, Eric Sande, Stefano Bellosta, Morris Schambelan, Robert E. Pitas, James G. McGuire, Joachim Herz, Robert V. Farese

    Udgivet 1996
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  9. 9
    Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

    Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship af Ronen Spiegel, Hanna Mandel, Ann Saada, Issy Lerer, Ayala Burger, Avraham Shaag, Stavit A. Shalev, Haneen Jabaly-Habib, Dorit Goldsher, John M. Gomori, Alex Lossos, Orly Elpeleg, Vardiella Meiner

    Udgivet 2014
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  10. 10
    Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder

    Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder af Alexander Lossos, Nimrod Elazar, Israela Lerer, Ora Schueler‐Furman, Yakov Fellig, Benjamin S. Glick, Bat-El Zimmerman, Haim Azulay, Shlomo Dotan, Sharon Goldberg, John M. Gomori, Penina Ponger, J. P. Newman, Hodaifah Marreed, Andreas Steck, Nicole Schaeren‐Wiemers, Nofar Mor, Michal Harel, Tamar Geiger, Yael Eshed‐Eisenbach, Vardiella Meiner, Elior Peles

    Udgivet 2015
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  11. 11
    RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1

    RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1 af Bassam Abu‐Libdeh, Satpal S. Jhujh, Srijita Dhar, Joshua A. Sommers, Arindam Datta, Gabriel M. C. Longo, Laura Grange, John J. Reynolds, Sophie Cooke, Gavin S. McNee, Robert M. Hollingworth, Beth Woodward, Anil Ganesh, Stephen J. Smerdon, Claudia M. Nicolae, Karina Durlacher-Betzer, Vered Molho‐Pessach, Abdulsalam Abu‐Libdeh, Vardiella Meiner, George‐Lucian Moldovan, Vassilis Roukos, Tamar Harel, Robert Brosh, Grant S. Stewart

    Udgivet 2022
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  12. 12
    Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

    Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome af Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie‐Claude Babron, Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzalès, Eleanor Rattenberry, Chantal Esculpavit, Annick Toutain, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie‐Christine Dauge, J. Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Françoise Ménez, A. M. Beaufrére, Christine Francannet, Julia Tantau, Martine Sinico, Yves Dumez, Fiona MacDonald, Arnold Münnich, Stanislas Lyonnet, Marie‐Claire Gubler, Emmanuelle Génin, Colin A. Johnson, Michel Vekemans, Férechté Encha‐Razavi, Tania Attié‐Bitach

    Udgivet 2007
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  13. 13
    Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

    Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis af Carol Dobson‐Stone, Adrian Danek, Luca Rampoldi, R Hardie, RM Chalmers, Nicholas Wood, Saeed Bohlega, Mt Dotti, Antonio Federico, Masami Shizuka, Masami Tanaka, Masao Watanabe, Yoshio Ikeda, Mitchell F. Brin, LG Goldfarb, BI Karp, Saidi Mohiddin, Lameh Fananapazir, Alexander Storch, A E Fryer, Paul Maddison, Igor Sibon, PC Trevisol-Bittencourt, Carlos Singer, IR Caballero, JO Aasly, K Schmierer, Reinhard Dengler, L-P Hiersemenzel, Massimo Zeviani, Vardiella Meiner, Alexander Lossos, S. E. N. Johnson, FC Mercado, Giuseppe Sorrentino, Nicolas Dupré, GA Rouleau, Jens Volkmann, Javier Arpa, Andrew Lees, G Géraud, Sylvain Chouinard, Andrea H. Németh, Anthony P. Monaco

    Udgivet 2002
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  14. 14
    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria af Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A.N. Thompson, Lilach Shemer-Meiri, Thomas D. Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo‐Kyung Chung, Mark I. Rees, Chirag Patel, Louise Brueton, Valérie Layet, Fabienne Giuliano, Michael Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman‐Sagie, Katherine L. Helbig, Laura H. Kofman, Kristin Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A. Swanger, Gil Shaulsky, Ghayda Mirzaa, Alison M. Muir, Heather C. Mefford, William B. Dobyns, Amanda B. Mackenzie, Jonathan G.L. Mullins, Johannes R. Lemke, Nadia Bahi‐Buisson, Stephen F. Traynelis, Heledd F Iago, Daniela T. Pilz

    Udgivet 2017
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  15. 15
    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... af Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett H. Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al‐Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben‐Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne Katrin Lampe, Ajith Kumar, Melissa Lees, Muriel Holder‐Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema R. Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

    Udgivet 2019
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  16. 16
    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, a... af Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sérgio B. Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko Itō, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal Waill Saadi, Maha S. Zaki, Arjan Bouman, Tahsin Stefan Barakat, David Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh‐Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Al‐Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C. Robson, Zeynep Coban‐Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas Alex Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H. Elsea, Davut Pehli̇van, Dana Marafi, James R. Lupski

    Udgivet 2022
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  17. 17
    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction af Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Amudhavalli, Siddharth Banka, Frédérique Béna, Bruria Ben‐Zeev, Vincent R. Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, Hui Bein Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, Emmanuèlle C. Délot, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Barbara Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir‐Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, A.A. Kattentidt-Mouravieva, Fernando Kok, Urania Kotzaeridou, V. Krishnamurthy, Vaidutis Kučinskas, A. Kuechler, Alinoë Lavillaureix, P. Liu, Linda Manwaring, Naomichi Matsumoto, B. Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip Hen Moey, Shehla Mohammed, Hagar Mor‐Shaked, Hayley S. Mountford, Ruth Newbury‐Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy Blake Palculict, Michael Parker, Andrea Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago‐Sim, C. Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P.A. Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin‐Dembinsky, Juliana H. Vedovato-dos-Santos, Samantha A. Schrier Vergano, Éric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, Lisenka E.L.M. Vissers

    Udgivet 2020
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  18. 18
    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction af Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Amudhavalli, Siddharth Banka, Frédérique Béna, Bruria Ben‐Zeev, Vincent R. Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, Hui Bein Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, Emmanuèlle C. Délot, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Benjamin Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir‐Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, Anja A. Kattentidt‐Mouravieva, Fernando Kok, Urania Kotzaeridou, Vidya Krishnamurthy, Vaidutis Kučinskas, Alma Kuechler, Alinoë Lavillaureix, Pengfei Liu, Linda Manwaring, Naomichi Matsumoto, Benoît Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip Hen Moey, Shehla Mohammed, Hagar Mor‐Shaked, Hayley S. Mountford, Ruth Newbury‐Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy Blake Palculict, Michael Parker, Andrea Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago‐Sim, Caitlin Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P.A. Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin‐Dembinsky, Juliana H. Vedovato-dos-Santos, Samantha A. Schrier Vergano, Éric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, Lisenka E.L.M. Vissers

    Udgivet 2021
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