Search Results - Leah R. Fleming

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  1. 1
    Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy

    Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy by Leah R. Fleming, Monica E. Lemmon, Natalie Beck, Maria R. Johnson, Weiyi Mu, David R. Murdock, Joann Bodurtha, Julie Hoover‐Fong, Ronald D. Cohn, Thangamadhan Bosemani, Kristin Barañano, Ada Hamosh

    Published 2015
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  2. 2
    Prospective Evaluation of Kidney Disease in Joubert Syndrome

    Prospective Evaluation of Kidney Disease in Joubert Syndrome by Leah R. Fleming, Daniel Doherty, Melissa A. Parisi, Ian Glass, Joy Bryant, Roxanne Fischer, Barış Türkbey, Peter L. Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine V. Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay‐Aygun

    Published 2017
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  3. 3
    Identification of <i>STAC3</i> variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

    Identification of <i>STAC3</i> variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome by Aida Telegrafi, Bryn D. Webb, Sarah M. Robbins, Carlos E. Speck‐Martins, David Fitzpatrick, Leah R. Fleming, Richard J. Redett, Andreas Dufke, Gunnar Houge, J. J. T. van Harssel, Alain Verloès, Angela Robles, Irini Manoli, Elizabeth C. Engle, Ethylin Wang Jabs, David Valle, John C. Carey, Julie Hoover‐Fong, Nara L. M. Sobreira

    Published 2017
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  4. 4
    <i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

    <i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome by Sarah L. Stenton, Markéta Tesařová, Н Л Шеремет, Claudia B. Catarino, Valério Carelli, Elżbieta Ciara, Kathryn Curry, Martin Engvall, Leah R. Fleming, Peter Freisinger, Katarzyna Iwanicka‐Pronicka, Elżbieta Jurkiewicz, Thomas Klopstock, Mary Kay Koenig, Hana Kolářová, Bohdan Kousal, Tatiana Krylova, Chiara La Morgia, Lenka Nosková, Dorota Piekutowska‐Abramczuk, Sam N. Russo, Viktor Stránecký, Iveta Tóthová, Frank Träisk, Holger Prokisch

    Published 2022
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  5. 5
    Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

    Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome by Danielle C. Lynch, Timothée Revil, Jeremy Schwartzentruber, Elizabeth Bhoj, A. Micheil Innes, Ryan E. Lamont, Edmond G. Lemire, Bernard N. Chodirker, Juliet Taylor, Elaine H. Zackai, D. Ross McLeod, Edwin P. Kirk, Julie Hoover‐Fong, Leah R. Fleming, Ravi Savarirayan, Kym M. Boycott, Alex MacKenzie, Michael Brudno, Dennis E. Bulman, David A. Dyment, Jacek Majewski, Loydie A. Jerome‐Majewska, Jillian S. Parboosingh, François Bernier

    Published 2014
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  6. 6
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants by Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    Published 2018
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  7. 7
    Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

    Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder by 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

    Published 2021
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