Hasil Pencarian - Carol Nelson-Williams

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  1. 1
    SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

    SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus oleh Sheng Chih Jin, Charuta G. Furey, Xue Zeng, August Allocco, Carol Nelson‐Williams, Weilai Dong, Jason K. Karimy, Kevin Wang, Shaojie Ma, Eric Delpire, Kristopher T. Kahle

    Diterbitkan 2019-09-01
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  2. 2
    A Novel Missense Mutation in <i>ERCC8</i> Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

    A Novel Missense Mutation in <i>ERCC8</i> Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family oleh Zeeshan Gauhar, Leon Tejwani, Uzma Abdullah, Sadia Saeed, Shagufta Shafique, Mazhar Badshah, Jungmin Choi, Weilai Dong, Carol Nelson-Williams, Richard P. Lifton, Janghoo Lim, Ghazala K. Raja

    Diterbitkan 2022-09-01
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  3. 3
    Abstract 82: De novo Mutation Burden Reveals Novel Molecular Subtypes of Non-syndromic Craniosynostosis

    Abstract 82: De novo Mutation Burden Reveals Novel Molecular Subtypes of Non-syndromic Craniosynostosis oleh Andrew T. Timberlake, PhD, Charuta G. Furey, BS, Jungmin Choi, PhD, Carol Nelson-Williams, BS, Derek M. Steinbacher, DMD MD, Dawid Larysz, MD, John A. Persing, MD, Richard P. Lifton, MD PhD

    Diterbitkan 2018-04-01
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  4. 4
    Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation

    Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation oleh Daniel M. Balkin, MD, PhD, Carol Nelson-Williams, BS, MS, Brandon J. Sumpio, BA, Daryl A. Scott, MD, PhD, Pierre Le Pabic, PhD, Thomas F. Schilling, PhD, Richard P. Lifton, MD, PhD, Deepak Narayan, MD

    Diterbitkan 2018-04-01
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  5. 5
    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism oleh Ute I Scholl, Gabriel Stölting, Carol Nelson-Williams, Alfred A Vichot, Murim Choi, Erin Loring, Manju L Prasad, Gerald Goh, Tobias Carling, C Christofer Juhlin, Ivo Quack, Lars C Rump, Anne Thiel, Marc Lande, Britney G Frazier, Majid Rasoulpour, David L Bowlin, Christine B Sethna, Howard Trachtman, Christoph Fahlke, Richard P Lifton

    Diterbitkan 2015-04-01
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  6. 6
    Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

    Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3 oleh August A. Allocco, Sheng Chih Jin, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Murat Gunel, Richard P. Lifton, Richard P. Lifton, Kristopher T. Kahle, Kristopher T. Kahle, Kristopher T. Kahle, Kristopher T. Kahle

    Diterbitkan 2019-09-01
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  7. 7
    Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

    Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles oleh Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton

    Diterbitkan 2016-09-01
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  8. 8
    Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

    Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia oleh Weilai Dong, Sheng Chih Jin, August Allocco, Xue Zeng, Amar H. Sheth, Shreyas Panchagnula, Annie Castonguay, Louis-Étienne Lorenzo, Barira Islam, Geneviève Brindle, Karine Bachand, Jamie Hu, Agata Sularz, Jonathan Gaillard, Jungmin Choi, Ashley Dunbar, Carol Nelson-Williams, Emre Kiziltug, Charuta Gavankar Furey, Sierra Conine, Phan Q. Duy, Adam J. Kundishora, Erin Loring, Boyang Li, Qiongshi Lu, Geyu Zhou, Wei Liu, Xinyue Li, Michael C. Sierant, Shrikant Mane, Christopher Castaldi, Francesc López-Giráldez, James R. Knight, Raymond F. Sekula, Jr., J. Marc Simard, Emad N. Eskandar, Christopher Gottschalk, Jennifer Moliterno, Murat Günel, Jason L. Gerrard, Sulayman Dib-Hajj, Stephen G. Waxman, Fred G. Barker, II, Seth L. Alper, Mohamed Chahine, Shozeb Haider, Yves De Koninck, Richard P. Lifton, Kristopher T. Kahle

    Diterbitkan 2020-10-01
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  9. 9
    Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

    Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations oleh Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Le Thi Hao, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Quentin J. Moyer, Evan Dennis, Emre Kiziltug, Adam J. Kundishora, Tyrone DeSpenza, Ana B. W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle

    Diterbitkan 2023-11-01
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