Showing 1 - 16 results of 16 for search 'Ambrin Fatima', query time: 0.05s Refine Results
  1. 1
    Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A

    Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A by Jens Schuster, Claudia de Guidi, Ambrin Fatima, Maria Sobol, Niklas Dahl

    Published 2021-12-01
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  2. 2
    Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

    Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations by Jens Schuster, Ambrin Fatima, Franziska Schwarz, Joakim Klar, Loora Laan, Niklas Dahl

    Published 2019-07-01
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  3. 3
    Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9

    Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9 by Ambrin Fatima, Jens Schuster, Talia Akram, Maria Sobol, Jan Hoeber, Niklas Dahl

    Published 2020-04-01
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  4. 4
    Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

    Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21) by Jens Schuster, Jan Hoeber, Maria Sobol, Ambrin Fatima, Göran Annerén, Niklas Dahl

    Published 2020-12-01
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  5. 5
    A Novel Nonsense Variant in <i>GRM1</i> Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family

    A Novel Nonsense Variant in <i>GRM1</i> Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family by Hammad Yousaf, Ambrin Fatima, Zafar Ali, Shahid M. Baig, Mathias Toft, Zafar Iqbal

    Published 2022-09-01
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  6. 6
    Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9

    Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9 by Ambrin Fatima, Jens Schuster, Talia Akram, Carolina Maya González, Maria Sobol, Jan Hoeber, Niklas Dahl

    Published 2020-04-01
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  7. 7
    Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

    Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant by Jens Schuster, Maria Sobol, Ambrin Fatima, Ayda Khalfallah, Loora Laan, Britt-Marie Anderlid, Ann Nordgren, Niklas Dahl

    Published 2019-08-01
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  8. 8
    MCPH1: A Novel Case Report and a Review of the Literature

    MCPH1: A Novel Case Report and a Review of the Literature by Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, Ambrin Fatima, Lars Allan Larsen, Roberta Zuntini, Manuela Napoli, Livia Garavelli

    Published 2022-04-01
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  9. 9
    Minocycline, a possible neuroprotective agent in Leber’s hereditary optic neuropathy (LHON): Studies of cybrid cells bearing 11778 mutation

    Minocycline, a possible neuroprotective agent in Leber’s hereditary optic neuropathy (LHON): Studies of cybrid cells bearing 11778 mutation by Mohammad Fahad Haroon, Ambrin Fatima, Susanne Schöler, Anne Gieseler, Thomas F.W. Horn, Elmar Kirches, Gerald Wolf, Peter Kreutzmann

    Published 2007-12-01
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  10. 10
    Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families

    Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families by Ambrin Fatima, Uzma Abdullah, Muhammad Farooq, Yuan Mang, Mana M. Mehrjouy, Maria Asif, Zafar Ali, Niels Tommerup, Shahid M. Baig

    Published 2021-11-01
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  11. 11
    The SARS-CoV-2 differential genomic adaptation in response to varying UVindex reveals potential genomic resources for better COVID-19 diagnosis and prevention

    The SARS-CoV-2 differential genomic adaptation in response to varying UVindex reveals potential genomic resources for better COVID-19 diagnosis and prevention by Naveed Iqbal, Muhammad Rafiq, Masooma, Sanaullah Tareen, Maqsood Ahmad, Faheem Nawaz, Sumair Khan, Rida Riaz, Ting Yang, Ambrin Fatima, Muhsin Jamal, Shahid Mansoor, Xin Liu, Nazeer Ahmed

    Published 2022-08-01
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  12. 12
    Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.

    Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. by Joakim Klar, Jörg Piontek, Susanne Milatz, Muhammad Tariq, Muhammad Jameel, Tilman Breiderhoff, Jens Schuster, Ambrin Fatima, Maria Asif, Muhammad Sher, Katrin Mäbert, Anja Fromm, Shahid M Baig, Dorothee Günzel, Niklas Dahl

    Published 2017-07-01
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  13. 13
    ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

    ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function by Jens Schuster, Joakim Klar, Ayda Khalfallah, Loora Laan, Jan Hoeber, Ambrin Fatima, Velin Marita Sequeira, Zhe Jin, Sergiy V. Korol, Mikael Huss, Ann Nordgren, Ann Nordgren, Britt Marie Anderlid, Britt Marie Anderlid, Caroline Gallant, Bryndis Birnir, Niklas Dahl

    Published 2022-10-01
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  14. 14
    Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

    Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders by Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, Hammad Yousaf, Ghazala Zafar, Haq Nawaz Khan, Muhammad Sher, Barbara Vona, Uzma Abdullah, Naveed Altaf Malik, Joakim Klar, Stephanie Efthymiou, Niklas Dahl, Henry Houlden, Mathias Toft, Shahid Mahmood Baig, Ambrin Fatima, Zafar Iqbal

    Published 2023-07-01
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  15. 15
    RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

    RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis by Muhammad Farooq, Louise Lindbæk, Nicolai Krogh, Canan Doganli, Cecilie Keller, Maren Mönnich, André Brás Gonçalves, Srinivasan Sakthivel, Yuan Mang, Ambrin Fatima, Vivi Søgaard Andersen, Muhammad S. Hussain, Hans Eiberg, Lars Hansen, Klaus Wilbrandt Kjaer, Jay Gopalakrishnan, Lotte Bang Pedersen, Kjeld Møllgård, Henrik Nielsen, Shahid. M. Baig, Niels Tommerup, Søren Tvorup Christensen, Lars Allan Larsen

    Published 2020-11-01
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  16. 16
    Modifier Genes in Microcephaly: A Report on <i>WDR62</i>, <i>CEP63</i>, <i>RAD50</i> and <i>PCNT</i> Variants Exacerbating Disease Caused by Biallelic Mutations of <i>ASPM</i> and <i>CENPJ</i>

    Modifier Genes in Microcephaly: A Report on <i>WDR62</i>, <i>CEP63</i>, <i>RAD50</i> and <i>PCNT</i> Variants Exacerbating Disease Caused by Biallelic Mutations of <i>ASPM</i> and... by Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Höhne, Sigrid Tinschert, Saadia Maryam Saadi, Hammad Yousaf, Zafar Ali, Ambrin Fatima, Emrah Kaygusuz, Ayaz Khan, Muhammad Jameel, Sheraz Khan, Muhammad Tariq, Iram Anjum, Janine Altmüller, Holger Thiele, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain

    Published 2021-05-01
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