Näytetään 1 - 15 yhteensä 15 tuloksesta haulle 'Ambrin Fatima', hakuaika: 0,05s Tarkenna hakua
  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 Tekijä Jens Schuster, Claudia de Guidi, Ambrin Fatima, Maria Sobol, Niklas Dahl

    Julkaistu 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 Tekijä Jens Schuster, Ambrin Fatima, Franziska Schwarz, Joakim Klar, Loora Laan, Niklas Dahl

    Julkaistu 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 Tekijä Ambrin Fatima, Jens Schuster, Talia Akram, Maria Sobol, Jan Hoeber, Niklas Dahl

    Julkaistu 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) Tekijä Jens Schuster, Jan Hoeber, Maria Sobol, Ambrin Fatima, Göran Annerén, Niklas Dahl

    Julkaistu 2020-12-01
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  5. 5
    Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

    Generation of a ZEB2 deficient human iPSC line (KICRi002A-4) Tekijä Jens Schuster, Ambrin Fatima, Natalia Papadopoulos, Claudia de Guidi, Maria Sobol, Niklas Dahl

    Julkaistu 2024-10-01
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  6. 6
    Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations

    Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations Tekijä Jens Schuster, Ambrin Fatima, Maria Sobol, Feria Hikmet Norradin, Loora Laan, Niklas Dahl

    Julkaistu 2019-08-01
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  7. 7
    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 Tekijä Ambrin Fatima, Jens Schuster, Talia Akram, Carolina Maya González, Maria Sobol, Jan Hoeber, Niklas Dahl

    Julkaistu 2020-04-01
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  8. 8
    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 Tekijä Jens Schuster, Maria Sobol, Ambrin Fatima, Ayda Khalfallah, Loora Laan, Britt-Marie Anderlid, Ann Nordgren, Niklas Dahl

    Julkaistu 2019-08-01
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  9. 9
    A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family

    A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family Tekijä Rabab Ibrahim, Ghazala Zafar, Shafaq Ramzan, Hijab Zahra, Asmat Ali, Shahnaz Ibrahim, Mathias Toft, Zafar Iqbal, Ambrin Fatima

    Julkaistu 2024-01-01
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  10. 10
    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 Tekijä Mohammad Fahad Haroon, Ambrin Fatima, Susanne Schöler, Anne Gieseler, Thomas F.W. Horn, Elmar Kirches, Gerald Wolf, Peter Kreutzmann

    Julkaistu 2007-12-01
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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 Tekijä 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

    Julkaistu 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. Tekijä 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

    Julkaistu 2017-07-01
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  13. 13
    Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism

    Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism Tekijä Yassine Zouaghi, Anbreen Mazhar Choudhary, Saba Irshad, Michela Adamo, Khaleeq ur Rehman, Ambrin Fatima, Mariam Shahid, Nida Najmi, Fernanda De Azevedo Correa, Imen Habibi, Alexia Boizot, Nicolas J. Niederländer, Muhammad Ansar, Federico Santoni, James Acierno, Nelly Pitteloud

    Julkaistu 2024-08-01
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  14. 14
    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 Tekijä 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

    Julkaistu 2022-10-01
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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 Tekijä 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

    Julkaistu 2020-11-01
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