نتائج البحث - Shahid Mahmood Baig

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  1. 1
    Mini Review Identifying human disease genes: advances in molecular genetics and computational approaches

    Mini Review Identifying human disease genes: advances in molecular genetics and computational approaches حسب Syeda Marriam Bakhtiar, Amjad Ali, Shahid Mahmood Baig, Debmalya Barh, Anderson Miyoshi, Vasco Azevedo

    منشور في 2014
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    Revisão
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  2. 2
    <p>Identifying the reasons for delayed presentation of Pakistani breast cancer patients at a tertiary care hospital</p>

    <p>Identifying the reasons for delayed presentation of Pakistani breast cancer patients at a tertiary care hospital</p> حسب Faisal Gulzar, Muhammad Shoaib Akhtar, Rafshan Sadiq, Sajid Bashir, Sajida Jamil, Shahid Mahmood Baig

    منشور في 2019
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  3. 3
    Molecular and population genetic analyses of β-Thalassemia in Turkey

    Molecular and population genetic analyses of β-Thalassemia in Turkey حسب Ghazi Omar Tadmouri, Şükrü Tüzmen, H. Özçelik, A. Özer, Shahid Mahmood Baig, E.B. Senga, Anindita Basak

    منشور في 1998
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  4. 4
    WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

    WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome حسب Sadia Nawaz, Joakim Klar, Muhammad Wajid, Muhammad Aslam, Muhammad Tariq, Jens Schuster, Shahid Mahmood Baig, Niklas Dahl

    منشور في 2009
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  5. 5
    Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

    Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation حسب Tahir Naeem Khan, Joakim Klar, Muhammad Tariq, Shehla Anjum Baig, Naveed Altaf Malik, Raja Yousaf, Shahid Mahmood Baig, Niklas Dahl

    منشور في 2014
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  6. 6
    A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

    A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features حسب Georgios Kellaris, Kamal Khan, Shahid Mahmood Baig, I-Chun Tsai, Francisca Millan Zamora, Paul Ruggieri, Marvin R. Natowicz, Nicholas Katsanis

    منشور في 2018
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  7. 7
    Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia

    Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia حسب Anne-Sophie Fröjmark, Jens Schuster, Maria Sobol, Miriam Entesarian, Michaela B. C. Kilander, Dana Gabriková, Sadia Nawaz, Shahid Mahmood Baig, Gunnar Schulte, Joakim Klar, Niklas Dahl

    منشور في 2011
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  8. 8
    Abolished InsP3R2 function inhibits sweat secretion in both humans and mice

    Abolished InsP3R2 function inhibits sweat secretion in both humans and mice حسب Joakim Klar, Chihiro Hisatsune, Shahid Mahmood Baig, Muhammad Tariq, Anna Johansson, Mahmood Rasool, Naveed Altaf Malik, Adam Ameur, Kotomi Sugiura, Lars Feuk, Katsuhiko Mikoshiba, Niklas Dahl

    منشور في 2014
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  9. 9
    Prediction of viral loads for diagnosis of Hepatitis C infection in human plasma samples using Raman spectroscopy coupled with partial least squares regression analysis

    Prediction of viral loads for diagnosis of Hepatitis C infection in human plasma samples using Raman spectroscopy coupled with partial least squares regression analysis حسب Haq Nawaz, Nosheen Rashid, Muhammad Saleem, Muhammad Asif Hanif, Muhammad Irfan Majeed, Imran Amin, Munawar Iqbal, Moazur Rahman, Ola Ibrahim, Shahid Mahmood Baig, Mushtaq Ahmed, Franck Bonnier, Hugh J. Byrne

    منشور في 2017
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  10. 10
    Role of cholesterol and sphingolipids in brain development and neurological diseases

    Role of cholesterol and sphingolipids in brain development and neurological diseases حسب Ghulam Hussain, Jing Wang, Azhar Rasul, Haseeb Anwar, Ali Imran, Muhammad Qasim, Shamaila Zafar, Syed Kamran, Aroona Razzaq, Nimra Aziz, Waseem Ahmad, Asghar Shabbir, Javed Iqbal, Shahid Mahmood Baig, Tao Sun

    منشور في 2019
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  11. 11
    A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

    A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function حسب Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, Gudrun Nürnberg, Muhammad Farooq, Ilyas Ahmad, Thomas Alef, Hans Christian Hennies, Martin Technau, Janine Altmüller, Peter Frommolt, Holger Thiele, Angelika A. Noegel, Peter Nürnberg

    منشور في 2012
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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 حسب Joakim Klar, Jörg Piontek, Susanne Milatz, Muhammad Tariq, Muhammad Jameel, Tilman Breiderhoff, Jens Schuster, Ambrin Fatima, Maria Asif, Muhammad Ali Sher, Katrin Mäbert, Anja Fromm, Shahid Mahmood Baig, Dorothee Günzel, Niklas Dahl

    منشور في 2017
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  13. 13
    Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome

    Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome حسب Silke B. Lohan, Malte Spielmann, Sandra C. Doelken, Ricarda Flöttmann, Fatima A. Muhammad, Shahid Mahmood Baig, Muhammad Wajid, Wiebke Hülsemann, R. Habenicht, Klaus Kjaer, Siddaramappa J. Patil, Katta M. Girisha, Hugo Hernán Abarca-Barriga, Stefan Mundlos, Eva Klopocki

    منشور في 2014
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  14. 14
    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 حسب 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

    منشور في 2013
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  15. 15
    A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

    A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family حسب Muzammil Ahmad Khan, Verena Rupp, Meritxell Orpinell, Muhammad Sajid Hussain, Janine Altmüller, Michel O. Steinmetz, Christian Enzinger, Hölger Thiele, Wolfgang Höhne, Gudrun Nürnberg, Shahid Mahmood Baig, Muhammad Ansar, Peter Nürnberg, John B. Vincent, Michael R. Speicher, Pierre Gönczy, Christian Windpassinger

    منشور في 2014
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  16. 16
    Imbalance between Neutrophil Elastase and its Inhibitor α1-Antitrypsin in Obesity Alters Insulin Sensitivity, Inflammation, and Energy Expenditure

    Imbalance between Neutrophil Elastase and its Inhibitor α1-Antitrypsin in Obesity Alters Insulin Sensitivity, Inflammation, and Energy Expenditure حسب Virginie Mansuy‐Aubert, Qiong Zhou, Xiangyang Xie, Zhenwei Gong, Jun-Yuan Huang, Abdul Rehman Khan, Grégory Aubert, Karla Candelaria, Shantele C. Thomas, Dong-Ju Shin, Sarah L. Booth, Shahid Mahmood Baig, Ahmed Bilal, Daehee Hwang, Hui Zhang, Robin Lovell‐Badge, Steven R. Smith, Fazli Rabbi Awan, Zhen Jiang

    منشور في 2013
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  17. 17
    CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

    CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly حسب Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, Vivek S. Peche, Sandra Szczepanski, Gudrun Nürnberg, Muhammad Tariq, Muhammad Jameel, Tahir Naeem Khan, Ambrin Fatima, Naveed Altaf Malik, Ilyas Ahmad, Janine Altmüller, Peter Frommolt, Hölger Thiele, Wolfgang Höhne, Gökhan Yigit, Bernd Wollnik, Bernd A. Neubauer, Peter Nürnberg, Angelika A. Noegel

    منشور في 2013
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  18. 18
    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 حسب Muhammad Farooq, Louise Lindbæk, Nicolai Krogh, Canan Doğanlı, Cecilie Keller, Maren Mönnich, André Brás Gonçalves, Srinivasan Sakthivel, Yuan Mang, Ambrin Fatima, Vivi Søgaard Andersen, Muhammad Sajid Hussain, Hans Eiberg, Lars Hestbjerg Hansen, Klaus Kjaer, Jay Gopalakrishnan, Lotte B. Pedersen, Kjeld Møllgård, Henrik Nielsen, Shahid Mahmood Baig, Niels Tommerup, Søren T. Christensen, Lars Allan Larsen

    منشور في 2020
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  19. 19
    Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and<i>PEX26</i>mutated in Heimler syndrome

    Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read... حسب Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller, Bodo B. Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike Korbmacher, Dagmar Huhle, Solaf M. Elsayed, Hesham M. Taha, Shahid Mahmood Baig, Heidi Stöhr, Markus N. Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel‐Wolfrum, Arif O. Khan, Hanno J. Bolz

    منشور في 2017
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  20. 20
    Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

    Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies حسب Tobias Eisenberger, Christine Neuhaus, Arif O. Khan, Christian Decker, Markus N. Preising, Christoph Friedburg, Bieg Anika, Martin Gliem, Peter Charbel Issa, Frank G. Holz, Shahid Mahmood Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, S. Körtge‐Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y. Al‐Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S. Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J. Bolz

    منشور في 2013
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