Resultados da pesquisa - Rami Abou Jamra

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  1. 1
    Genetics of autosomal recessive intellectual disability

    Genetics of autosomal recessive intellectual disability Por Rami Abou Jamra

    Publicado em 2018
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  2. 2
    A comprehensive global genotype–phenotype database for rare diseases

    A comprehensive global genotype–phenotype database for rare diseases Por Daniel Trujillano, Gabriela Oprea, Yvonne Schmitz, Aida M. Bertoli‐Avella, Rami Abou Jamra, Arndt Rolfs

    Publicado em 2016
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  3. 3
    Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

    Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy Por Yoshiko Murakami, Hasan Tawamie, Yusuke Maeda, Christian Büttner, Rebecca Buchert, Farah Radwan, Stefanie Schaffer, Heinrich Sticht, Michael Aigner, André Reis, Taroh Kinoshita, Rami Abou Jamra

    Publicado em 2014
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  4. 4
    Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease

    Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease Por Isabel Ottlewski, Johannes Münch, Timo Wagner, Ria Schönauer, Anette Bachmann, Antje Weimann, Julia Hentschel, Tom H. Lindner, Daniel Seehofer, Carsten Bergmann, Rami Abou Jamra, Jan Halbritter

    Publicado em 2019
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  5. 5
    A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

    A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency Por Rebecca Buchert, Hasan Tawamie, Christopher Smith, Steffen Uebe, A. Micheil Innes, Bassam Al Hallak, Arif B. Ekici, Heinrich Sticht, Bernd Schwarze, Ryan E. Lamont, Jillian S. Parboosingh, François Bernier, Rami Abou Jamra

    Publicado em 2014
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  6. 6
    Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

    Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature Por Rami Abou Jamra, Orianne Philippe, Annick Raas‐Rothschild, Sebastian Eck, Elisabeth Graf, Rebecca Buchert, Guntram Borck, Arif B. Ekici, Felix F. Brockschmidt, Markus M. Nöthen, Arnold Münnich, Tim M. Strom, André Reis, Laurence Colleaux

    Publicado em 2011
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  7. 7
    Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals

    Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals Por Robert Künzel, H. Faust, Linnaeus Bundalian, Matthias Blüher, Mariami Jasaszwili, Anna Kirstein, Albrecht Kobelt, Antje Körner, Denny Popp, E. Wenzel, Rami Abou Jamra, Johannes R. Lemke, Torsten Schöneberg, Robert H. Stein, Antje Garten, Diana Le Duc

    Publicado em 2025
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  8. 8
    Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

    Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity Por Rami Abou Jamra, Sigrun Wohlfart, Markus Zweier, Steffen Uebe, Lutz Priebe, Arif B. Ekici, Susanne Giesebrecht, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Markus M. Nöthen, Johannes Schumacher, André Reis

    Publicado em 2011
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  9. 9
    Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

    Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly Por Martin W. Breuss, Tipu Sultan, Kiely N. James, Rasim Özgür Rosti, Eric Scott, Damir Musaev, Bansri Furia, André Reis, Heinrich Sticht, Mohammed Al‐Owain, Fowzan S. Alkuraya, Miriam S. Reuter, Rami Abou Jamra, Christopher R. Trotta, Joseph G. Gleeson

    Publicado em 2016
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  10. 10
    Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity

    Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity Por Elena Kempf, Kathrin Landgraf, Robert Stein, Martha Hanschkow, Anja Hilbert, Rami Abou Jamra, Paula Boczki, Gunda Herberth, Andreas Kühnapfel, Yu‐Hua Tseng, Claudia Stäubert, Torsten Schöneberg, Peter Kühnen, Nigel W. Rayner, Eleftheria Zeggini, Wieland Kieß, Matthias Blüher, Antje Körner

    Publicado em 2022
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  11. 11
    Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

    Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability Por Lars Hestbjerg Hansen, Hasan Tawamie, Yoshiko Murakami, Yuan Mang, Shoaib Ur Rehman, Rebecca Buchert, Stefanie Schaffer, Safia Muhammad, Mads Bak, Markus M. Nöthen, Eric Bennett, Yusuke Maeda, Michael Aigner, André Reis, Taroh Kinoshita, Niels Tommerup, Shahid Mahmood Baig, Rami Abou Jamra

    Publicado em 2013
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  12. 12
    Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in <i>SLC13A5</i> gene

    Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in <i>SLC13A5</i> gene Por Sara Matricardi, Paola De Liso, Elena Freri, Paola Costa, Barbara Castellotti, Stefania Magri, Cinzia Gellera, Tiziana Granata, Luciana Musante, Gaëtan Lesca, Julie Oertel, Dana Craiu, Trine Bjørg Hammer, Rikke S. Møller, Nina Barišić, Rami Abou Jamra, Tilman Polster, Federico Vigevano, Carla Marini

    Publicado em 2020
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  13. 13
    NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

    NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski Por Christian T. Thiel, Kristin Kessler, Andreas Gießl, Arno Dimmler, Stavit A. Shalev, Sigrun von der Haar, Martin Zenker, Diana Zahnleiter, H Stöß, Ernst Beinder, Rami Abou Jamra, Arif B. Ekici, Nadja Schröder-Kreß, Thomas Aigner, Thomas Kirchner, André Reis, Johann Helmut Brandstätter, Anita Rauch

    Publicado em 2011
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  14. 14
    The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations

    The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations Por Johannes Schumacher, Gonzalo Laje, Rami Abou Jamra, Tim Becker, Thomas W. Mühleisen, Catalina Vasilescu, Manuel Mattheisen, Stefan Herms, Per Hoffmann, Axel M. Hillmer, Alexander Georgi, Christine Herold, Thomas G. Schulze, Peter Propping, Marcella Rietschel, Francis J. McMahon, Markus M. Nöthen, Sven Cichon

    Publicado em 2009
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  15. 15
    Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

    Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature Por Nadine Hauer, Heinrich Sticht, Sangamitra Boppudi, Christian Büttner, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Dagmar Wieczorek, Jaqueline Kelkel, Anna‐Maria Jung, Steffen Uebe, Arif B. Ekici, Tilman Rohrer, André Reis, Helmuth‐Günther Dörr, Christian T. Thiel

    Publicado em 2017
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  16. 16
    De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

    De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities Por Sonja Martin, Adam Chamberlin, Deepali N. Shinde, Maja Hempel, Tim M. Strom, Allison Schreiber, Jessika Johannsen, Lilian Bomme Ousager, Martin J. Larsen, Lars Kjærsgaard Hansen, Ali Fatemi, Julie S. Cohen, Johannes R. Lemke, Kristina P. Sørensen, Katherine L. Helbig, Davor Lessel, Rami Abou Jamra

    Publicado em 2017
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  17. 17
    Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

    Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly Por Élodie M. Richard, D.L. Polla, Muhammad Zaman Khan Assir, Minerva Contreras, Mohsin Shahzad, Asma A. Khan, Attia Razzaq, Javed Akram, Moazzam Nazeer Tarar, Thomas A. Blanpied, Zubair M. Ahmed, Rami Abou Jamra, Dagmar Wieczorek, Hans van Bokhoven, Sheikh Riazuddin, Saima Riazuddin

    Publicado em 2019
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  18. 18
    Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

    Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features Por Anide Johansen, Rasim Özgür Rosti, Damir Musaev, Evan Sticca, Ricardo Harripaul, Maha S. Zaki, Ahmet Okay Çağlayan, Matloob Azam, Tipu Sultan, Tawfiq Froukh, André Reis, Bernt Popp, Iltaf Ahmed, Peter John, Muhammad Ayub, Tawfeg Ben‐Omran, John B. Vincent, Joseph G. Gleeson, Rami Abou Jamra

    Publicado em 2016
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  19. 19
    AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

    AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability Por Aline Bréchet, Rebecca Buchert, Jochen Schwenk, Sami Boudkkazi, Gerd Zolles, Karine Siquier-Pernet, Irene Schaber, Wolfgang Bildl, Abdelkrim Saadi, Christine Bôle‐Feysot, Patrick Nitschké, André Reis, Heinrich Sticht, Nouriya Al‐Sannaa, Arndt Rolfs, Ákos Kulik, Uwe Schulte, Laurence Colleaux, Rami Abou Jamra, Bernd Fakler

    Publicado em 2017
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  20. 20
    The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

    The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals Por Pia Zacher, Patrick May, Frank Brandhoff, Tobias Bartolomaeus, Diana Le Duc, Martin Finzel, Anja Heinze, Susanne Horn, Chiara Klöckner, Gudrun Körber, Julia Hentschel, Malgorzata Kalita, Ilona Krey, Marina Nastainczyk-Wulf, Konrad Platzer, Johannes Rebstock, Bernt Popp, Mathias Stiller, Anne‐Christin Teichmann, Rami Abou Jamra, Johannes R. Lemke

    Publicado em 2021
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