Resultados da pesquisa - Bassam Abu‐Libdeh

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  1. 1
    Deleterious mutation in <i>GPR88</i> is associated with chorea, speech delay, and learning disabilities

    Deleterious mutation in <i>GPR88</i> is associated with chorea, speech delay, and learning disabilities Por Fadi Alkufri, Avraham Shaag, Bassam Abu‐Libdeh, Orly Elpeleg

    Publicado em 2016
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  2. 2
    Organic solute transporter‐β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis

    Organic solute transporter‐β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis Por Mutaz Sultan, Anuradha Rao, Orly Elpeleg, Frédéric M. Vaz, Bassam Abu‐Libdeh, Saul J. Karpen, Paul A. Dawson

    Publicado em 2017
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  3. 3
    A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

    A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration Por Nadirah Damseh, Chris M. Danson, Motee Al-Ashhab, Bassam Abu‐Libdeh, Matthew Gallon, Kanchan Sharma, Yaacov Barak, Elizabeth Coulthard, Maeve A. Caldwell, Simon Edvardson, Peter J. Cullen, Orly Elpeleg

    Publicado em 2015
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  4. 4
    ETHE1 mutations are specific to ethylmalonic encephalopathy

    ETHE1 mutations are specific to ethylmalonic encephalopathy Por Valeria Tiranti, Egill Briem, Eleonora Lamantea, Rossana Mineri, Elena Papaleo, Luca De Gioia, Fabio Forlani, Piero Rinaldo, Patricia Dickson, Bassam Abu‐Libdeh, L Cindro-Heberle, M Owaidha, Rhona M. Jack, E. Christensen, Alberto Burlina, Massimo Zeviani

    Publicado em 2005
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  5. 5
    Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with <i><scp>TIMM50</scp></i> mutations

    Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with <i><scp>TIMM50</scp></i> mutations Por Maher Shahrour, Orna Staretz‐Chacham, Danit Dayan, Josiah Stephen, Alec A. Weech, Nadirah Damseh, H. Pri Chen, Simon Edvardson, Sina Mazaheri, Ann Saada, Eli Hershkovitz, Avraham Shaag, Marjan Huizing, Bassam Abu‐Libdeh, W. A. Gahl, Abdussalam Azem, Yair Anikster, Thierry Vilboux, Orly Elpeleg, May Christine V. Malicdan

    Publicado em 2016
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  6. 6
    Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients

    Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients Por Steffen Emmert, Hanoch Slor, David B. Busch, Sima Batko, Roberta Bliss Albert, Donna Coleman, Sikandar G. Khan, Bassam Abu‐Libdeh, John J. DiGiovanna, Bari B. Cunningham, Myung-Moo Lee, Jill Crollick, Hiroki Inui, Takahiro Ueda, Mohammad Hedayati, Lawrence I. Grossman, Tala Shahlavi, James E. Cleaver, Kenneth H. Kraemer

    Publicado em 2002
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  7. 7
    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 Por 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

    Publicado em 2022
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  8. 8
    Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

    Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis Por Mathilde Nizon, Céline Huber, Fabio De Leonardis, Rodolphe Merrina, Antonella Forlino, Mélanie Fradin, Beyhan Tüysüz, Bassam Abu‐Libdeh, Yasemin Alanay, Beate Albrecht, Lihadh Al‐Gazali, Sarenur Yilmaz Basaran, Jill Clayton‐Smith, Julie Désir, Harinder Gill, Marie T. Greally, Erkan Koparir, Merel C. van Maarle, Sara MacKay, Geert Mortier, Jenny Morton, David Sillence, Catheline Vilain, Ian Young, Klaus Zerres, Martine Le Merrer, Arnold Münnich, Carine Le Goff, Antonio Rossi, Valérie Cormier‐Daire

    Publicado em 2012
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  9. 9
    Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

    Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features Por Teresa Santiago‐Sim, Lindsay C. Burrage, Frédéric Ebstein, Mari Tokita, Marcus J. Miller, Weimin Bi, Alicia Braxton, Jill A. Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna Immken, Rebecca O. Littlejohn, Elizabeth Roeder, Bülent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R. Lemke, Orly Elpeleg, Bassam Abu‐Libdeh, Kiely N. James, Jennifer L. Silhavy, Mahmoud Y. Issa, Maha S. Zaki, Joseph G. Gleeson, John R. Seavitt, Mary E. Dickinson, M. Cecilia Ljungberg, Sara Wells, Sara Johnson, Lydia Teboul, Christine M. Eng, Yaping Yang, Peter‐Michael Kloetzel, Jason D. Heaney, Magdalena Walkiewicz, Zaid Afawi, Rudi Balling, Nina Barišić, Stéphanie Baulac, Dana Craiu, Peter De Jonghe, Rosa Guerrero, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Johanna Jähn, Karl Martin Klein, Eric LeGuern, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Arvid Suls, Rikke S. Møller, Pasquale Striano, Yvonne G. Weber, Federico Zara

    Publicado em 2017
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  10. 10
    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria Por Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo, Norma K. Hylton, Stephanie DiTroia, Vijay Ganesh, Richard S. Smith, Katherine O’kane, Rebecca C. Yeh, Jack H. Marciano, Samantha L. Kirkham, Connor Kenny, Janet Song, Muna Al Saffar, Francisca Millan, David J. Harris, Andrea V. Murphy, Kara C. Klemp, Stephen R. Braddock, Harrison Brand, Isaac Wong, Michael E. Talkowski, Anne O’Donnell‐Luria, Abbe Lai, Robert Hill, Ganeshwaran H. Mochida, Ryan N. Doan, A. James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A. Walsh, Bassam Abu‐Libdeh, Lihadh Al‐Gazali, Muna Al Saffar, Edith Alva Moncayo, Dina Amrom, Eva Anderman, Anna‐Kaisa Anttonen, Saunder Barnes, Sara Barnett, Todd F. Barron, Brenda J. Barry, Lina Basel‐Vanagaite, Lailá Bastaki, Luis Bello‐Espinosa, Tawfeg Ben‐Omran, Matthew P. Bernard, Carsten Bönneman, Blaise F. D. Bourgeois, S.D.M. Brown, Roberto Caraballo, Gergory Cascino, M Clarke, Monika Cohen, Yanick J. Crow, Bernard Dan, Kira A. Dies, William B. Dobyns, François Dubeau, Christelle Moufawad El Achkar, Gregory M. Enns, Laurence Faivre, Laura Flores‐Sarnat, John Gaitanis, Kuchukhidze Giorgi, Andrew Green, A. Guberman, Renzo Guerrini, Micheil Innes, R.G. Jacobsen, Sebastian Jacquemont, Samir Khalil, Joerg Klepper, Dimitri Kranic, Kalpathy Krishnamoorthy, Anna‐Elina Lehesjoki, Dorit Lev, Richard J. Leventer, Emily C. Lisi, Valerie Loik Ramey, Sally Ann Lynch, Laila Mahmoud, David K. Manchester, David E. Mandelbaum, Daphna Marom, Deborah Marsden, Mayra Martinez Ojeda, Amira Masri, Līvija Medne, Denis Melanson, David T. Miller, Anna Minster, Edward Neilan, Dang Khoa Nguyen, Heather E. Olson, I Pascual-Castroviejo

    Publicado em 2023
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