Canlyniadau Chwilio - D.L. Polla

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  1. 1
    A de novo variant in the X‐linked gene <i>CNKSR2</i> is associated with seizures and mild intellectual disability in a female patient

    A de novo variant in the X‐linked gene <i>CNKSR2</i> is associated with seizures and mild intellectual disability in a female patient gan D.L. Polla, Harriet R. Saunders, Bert B.A. de Vries, Hans van Bokhoven, Arjan P.M. de Brouwer

    Cyhoeddwyd 2019
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  2. 2
    Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting

    Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting gan Aida M. Bertoli‐Avella, Mandy Radefeldt, Ruslan Al‐Ali, Luba M. Pardo, Sabrina Lemke, Anika Leubauer, D.L. Polla, Rebecca Hörnicke, Lígia S. Almeida, Krishna Kumar Kandaswamy, Christian Beetz, Jorge Pinto Basto, Peter Bauer

    Cyhoeddwyd 2025
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  3. 3
    Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

    Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders gan D.L. Polla, Maria Terezinha Cardoso, Mayara C. B. Silva, Isabela C. C. Cardoso, Cristina Touguinha Neves Medina, Rosenelle Araujo, Camila C. Fernandes, Alessandra Maria Moreira Reis, Rosângela Vieira de Andrade, Rinaldo Wellerson Pereira, Robert Pogue

    Cyhoeddwyd 2015
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  4. 4
    Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

    Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly gan 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

    Cyhoeddwyd 2019
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  5. 5
    Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

    Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay gan Muhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, Periklis Makrythanasis, Sohail Aziz Paracha, Zafar Iqbal, Jamshed Khan, Muhammad Zaman Khan Assir, Mureed Hussain, Attia Razzaq, D.L. Polla, Abid Sohail Taj, Asbjørn Holmgren, Naila Batool, Doriana Misceo, Justyna Iwaszkiewicz, Arjan P.M. de Brouwer, Michel Guipponi, Sylviane Hanquinet, Vincent Zoete, Federico Santoni, Eirik Frengen, Jawad Ahmed, Sheikh Riazuddin, Hans van Bokhoven, Stylianos E. Antonarakis

    Cyhoeddwyd 2017
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  6. 6
    Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

    Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior gan Arjan P.M. de Brouwer, Rami Abou Jamra, Nadine Körtel, Clara Soyris, D.L. Polla, Modi Safra, Avia Zisso, Christopher A. Powell, Pedro Rebelo‐Guiomar, Nadja Dinges, Violeta Morı́n, Michael Stock, Mureed Hussain, Mohsin Shahzad, Saima Riazuddin, Zubair M. Ahmed, Rolph Pfundt, F. Schwarz, Lonneke de Boer, André Reis, Detelina Grozeva, F. Lucy Raymond, Sheikh Riazuddin, David A. Koolen, Michal Minczuk, Jean‐Yves Roignant, Hans van Bokhoven, Schraga Schwartz

    Cyhoeddwyd 2018
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  7. 7
    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation gan D.L. Polla, Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman, Dmitriy Niyazov, Fleur van Dijk, Serwet Demirdas, Marjon A. van Slegtenhorst, Anneke J.A. Kievit, Céline Schulz, Linlea Armstrong, Xin Bi, Daniel J. Rader, Kosuke Izumi, Elaine H. Zackai, Elisa De Franco, Paula Jorge, Sophie C. Huffels, Marina P. Hommersom, Sian Ellard, Dirk J. Lefeber, Avni Santani, Nicholas J. Hand, Hans van Bokhoven, Miao He, Arjan P.M. de Brouwer

    Cyhoeddwyd 2021
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  8. 8
    Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

    Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability gan Sheikh Riazuddin, Mureed Hussain, Abdul Razzaq, Zafar Iqbal, Mohsin Shahzad, D.L. Polla, Yang Song, Ellen van Beusekom, Asma A. Khan, Laura Tomás‐Roca, Muhammad Rashid, Muhammad Yasir Zahoor, W.M. Wissink-Lindhout, Muhammad Asim Raza Basra, Muhammad Ansar, Zehra Agha, Kay van Heeswijk, Faiza Rasheed, Micha van de Vorst, Joris A. Veltman, Christian Gilissen, Javed Akram, Tjitske Kleefstra, Muhammad Zaman Khan Assir, Detelina Grozeva, Keren Carss, F. Lucy Raymond, Timothy D. O’Connor, Sheikh Riazuddin, S. N. Khan, Zakiuddin Ahmed, Arjan P.M. de Brouwer, Hans van Bokhoven, Sheikh Riazuddin

    Cyhoeddwyd 2016
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  9. 9
    De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

    De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females gan D.L. Polla, Elizabeth Bhoj, Joanne Verheij, Jolien S. Klein Wassink‐Ruiter, André Reis, Charu Deshpande, Anne Gregor, K. Hill-Karfe, Anneke T. Vulto‐van Silfhout, Rolph Pfundt, Ernie M.H.F. Bongers, Hákon Hákonarson, Siren Berland, Gyri Aasland Gradek, Siddharth Banka, Kate Chandler, Lianne Gompertz, Sophie C. Huffels, Constance T. R. M. Stumpel, R. Wennekes, Alexander P.A. Stegmann, William Reardon, Erika Leenders, Bert B.A. de Vries, D. Li, Elaine H. Zackai, Nicola Ragge, Sally Ann Lynch, Sanmati Cuddapah, Hans van Bokhoven, Christiane Zweier, Arjan P.M. de Brouwer

    Cyhoeddwyd 2020
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  10. 10
    Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

    Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder gan Caroline Dias, Jaya Punetha, Céline Zheng, Neda Mazaheri, Abolfazl Rad, Stéphanie Efthymiou, Andrea Petersen, Mohammadreza Dehghani, Davut Pehli̇van, Jennifer N. Partlow, Jennifer E. Posey, Vincenzo Salpietro, Alper Gezdirici, Reza Azizi Malamiri, Nihal M. Al Menabawy, Laila Selim, Mohammad Yahya Vahidi Mehrjardi, Selina Banu, D.L. Polla, Edward Yang, Jamileh Rezazadeh Varaghchi, Tadahiro Mitani, Ellen van Beusekom, Maryam Najafi, Alireza Sedaghat, Jennifer Keller‐Ramey, L. Kathryn Durham, Zeynep Coban‐Akdemir, Ender Karaca, Valeria V. Orlova, Lieke Schaeken, Amir Sherafat, Shalini N. Jhangiani, Valentina Stanley, Gholamreza Shariati, Hamid Galehdari, Joseph G. Gleeson, Christopher A. Walsh, James R. Lupski, Elena Seiradake, Henry Houlden, Hans van Bokhoven, Reza Maroofian

    Cyhoeddwyd 2019
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  11. 11
    Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

    Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder gan D.L. Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, Parham Habibzadeh, Olga Levchenko, Pooneh Nikuei, Periklis Makrythanasis, Mureed Hussain, Sandra von Hardenberg, Sirous Zeinali, Mohammad‐Sadegh Fallah, Janneke Schuurs-Hoeijmakers, Mohsin Shahzad, Fareeha Fatima, Neelam Fatima, Laura Donker Kaat, Hennie T. Brüggenwirth, Leah R. Fleming, John Condie, Rafał Płoski, Agnieszka Pollak, Jacek Pilch, Nina Demina, А. Л. Чухрова, Vasilina S. Sergeeva, Hanka Venselaar, Amira Masri, Hanan Hamamy, Federico Santoni, Katrin Linda, Zubair M. Ahmed, Nael Nadif Kasri, Arjan P.M. de Brouwer, Anke K. Bergmann, Sven Hethey, Majid Yavarian, Muhammad Ansar, Saima Riazuddin, Sheikh Riazuddin, Mohammad Silawi, Gaia Ruggeri, Filomena Pirozzi, Ebrahim Eftekhar, Afsaneh Taghipour Sheshdeh, Shima Bahramjahan, Ghayda Mirzaa, А. В. Лавров, Stylianos E. Antonarakis, Mohammad Ali Faghihi, Hans van Bokhoven

    Cyhoeddwyd 2021
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  12. 12
    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay gan Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld M. Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, D.L. Polla, Dilys Weijers, Amber Begtrup, Kirsty McWalter, Anna Ruiz, Elisabeth Gabau, Jenny E.V. Morton, Christopher Griffith, Karin Weiss, Candace Gamble, James Bartley, Hilary J. Vernon, Kendra Brunet, Claudia Ruivenkamp, Sarina G. Kant, Paul Kruszka, Austin Larson, Alexandra Afenjar, Thierry Billette de Villemeur, Kimberly Nugent, F. Lucy Raymond, Hanka Venselaar, Florence Démurger, Claudia Soler‐Alfonso, Dong Li, Elizabeth Bhoj, Ian Hayes, Nina Powell Hamilton, Ayesha Ahmad, Rachel S. Fisher, Myrthe van den Born, Marjolaine Willems, Arthur Sorlin, Julian Delanne, Sébastien Moutton, Christophe Philippe, Frédéric Tran Mau‐Them, Antonio Vitobello, Himanshu Goel, Lauren Massingham, Chanika Phornphutkul, Jennifer Schwab, Boris Keren, Perrine Charles, Maaike Vreeburg, Lenika De Simone, George Hoganson, Maria Iascone, Donatella Milani, Lucie Evenepoel, Nicole Revençu, Daniel Ward, Kaitlyn Burns, Ian D. Krantz, Sarah E. Raible, Jill R. Murrell, Kathleen H. Wood, Megan T. Cho, Hans van Bokhoven, Maximilian Muenke, Tjitske Kleefstra, Rolf Bodmer, Arjan P.M. de Brouwer

    Cyhoeddwyd 2020
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