Works matching AU Hamid, Rizwan


Results: 138
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    Chasing Pulmonary Hypertension: 1980-2012.

    Published in:
    Advances in Pulmonary Hypertension, 2012, v. 11, n. 3, p. 121, doi. 10.21693/1933-088x-11.3.121
    By:
    • Newman, John H.;
    • Loyd, James E.;
    • Hemnes, Anna R.;
    • West, James D.;
    • Austin, Eric;
    • Fessel, Joshua;
    • Hamid, Rizwan;
    • Phillips III, John A.
    Publication type:
    Article
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    Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63597
    By:
    • Ezell, Kimberly M.;
    • Tinker, Rory J.;
    • Furuta, Yutaka;
    • Gulsevin, Alican;
    • Bastarache, Lisa;
    • Hamid, Rizwan;
    • Cogan, Joy D.;
    • Rives, Lynette;
    • Neumann, Serena;
    • Corner, Brian;
    • Kozuria, Mary;
    • Phillips, John A.;
    • Adams, David R.;
    • Afzali, Ben;
    • Al‐Beshri, Ali;
    • Allworth, Aimee;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Andrews, Ashley;
    • Ashley, Euan A.
    Publication type:
    Article
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    Probable digenic inheritance of Diamond–Blackfan anemia.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63454
    By:
    • Furuta, Yutaka;
    • Tinker, Rory J;
    • Gulsevin, Alican;
    • Neumann, Serena M.;
    • Hamid, Rizwan;
    • Cogan, Joy D.;
    • Rives, Lynette;
    • Liu, Qi;
    • Chen, Hua‐Chang;
    • Joos, Karen M.;
    • Phillips, John A.
    Publication type:
    Article
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    The contribution of mosaicism to genetic diseases and de novo pathogenic variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2482, doi. 10.1002/ajmg.a.63309
    By:
    • Tinker, Rory J.;
    • Bastarache, Lisa;
    • Ezell, Kimberly;
    • Kobren, Shilpa Nadimpalli;
    • Esteves, Cecilia;
    • Rosenfeld, Jill A.;
    • Macnamara, Ellen F.;
    • Hamid, Rizwan;
    • Cogan, Joy D.;
    • Rinker, David;
    • Mukharjee, Souhrid;
    • Glass, Ian;
    • Dipple, Katrina;
    • Phillips, John A.
    Publication type:
    Article
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    Neuro-Urology: Call for Universal, Resource-Independent Guidance.

    Published in:
    Biomedicines, 2023, v. 11, n. 2, p. 397, doi. 10.3390/biomedicines11020397
    By:
    • Werneburg, Glenn T.;
    • Welk, Blayne;
    • Averbeck, Marcio A.;
    • Blok, Bertil F. M.;
    • Hamid, Rizwan;
    • Kennelly, Michael J.;
    • Liao, Limin;
    • Musco, Stefania;
    • Vasudeva, Pawan;
    • Kessler, Thomas M.
    Publication type:
    Article
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    A copy number variation morbidity map of developmental delay.

    Published in:
    Nature Genetics, 2011, v. 43, n. 9, p. 838, doi. 10.1038/ng.909
    By:
    • Cooper, Gregory M.;
    • Coe, Bradley P.;
    • Girirajan, Santhosh;
    • Rosenfeld, Jill A.;
    • Vu, Tiffany H.;
    • Baker, Carl;
    • Williams, Charles;
    • Stalker, Heather;
    • Hamid, Rizwan;
    • Hannig, Vickie;
    • Abdel-Hamid, Hoda;
    • Bader, Patricia;
    • McCracken, Elizabeth;
    • Niyazov, Dmitriy;
    • Leppig, Kathleen;
    • Thiese, Heidi;
    • Hummel, Marybeth;
    • Alexander, Nora;
    • Gorski, Jerome;
    • Kussmann, Jennifer
    Publication type:
    Article
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    Molecular Function and Contribution of in Development and Disease.

    Published in:
    American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 7, p. 855, doi. 10.1164/rccm.202206-1039TR
    By:
    • Karolak, Justyna A.;
    • Welch, Carrie L.;
    • Mosimann, Christian;
    • Bzdęga, Katarzyna;
    • West, James D.;
    • Montani, David;
    • Eyries, Mélanie;
    • Mullen, Mary P.;
    • Abman, Steven H.;
    • Prapa, Matina;
    • Gräf, Stefan;
    • Morrell, Nicholas W.;
    • Hemnes, Anna R.;
    • Perros, Frédéric;
    • Hamid, Rizwan;
    • Logan, Malcolm P. O.;
    • Whitsett, Jeffrey;
    • Galambos, Csaba;
    • Stankiewicz, Paweł;
    • Chung, Wendy K.
    Publication type:
    Article
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    Molecular function and contribution of TBX4 in development and disease.

    Published in:
    2023
    By:
    • Karolak, Justyna A.;
    • Welch, Carrie L.;
    • Mosimann, Christian;
    • Bzdęga, Katarzyna;
    • West, James D.;
    • Montani, David;
    • Eyries, Mélanie;
    • Mullen, Mary P.;
    • Abman, Steven H.;
    • Prapa, Matina;
    • Gräf, Stefan;
    • Morrell, Nicholas W.;
    • Hemnes, Anna R.;
    • Perros, Frédéric;
    • Hamid, Rizwan;
    • Logan, Malcolm P. O.;
    • Whitsett, Jeffrey;
    • Galambos, Csaba;
    • Stankiewicz, Paweł;
    • Chung, Wendy K.
    Publication type:
    Chart/Diagram/Graph
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    SHC2 gene copy number in multiple system atrophy (MSA).

    Published in:
    Clinical Autonomic Research, 2014, v. 24, n. 1, p. 25, doi. 10.1007/s10286-013-0216-8
    By:
    • Ferguson, Marcus;
    • Garland, Emily;
    • Hedges, Lora;
    • Womack-Nunley, Bethany;
    • Hamid, Rizwan;
    • Phillips, John;
    • Shibao, Cyndya;
    • Raj, Satish;
    • Biaggioni, Italo;
    • Robertson, David
    Publication type:
    Article
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    Corrigendum: A copy number variation morbidity map of developmental delay.

    Published in:
    Nature Genetics, 2014, v. 46, n. 9, p. 1040, doi. 10.1038/ng0914-1040a
    By:
    • Cooper, Gregory M;
    • Coe, Bradley P;
    • Girirajan, Santhosh;
    • Rosenfeld, Jill A;
    • Vu, Tiffany H;
    • Baker, Carl;
    • Williams, Charles;
    • Stalker, Heather;
    • Hamid, Rizwan;
    • Hannig, Vickie;
    • Abdel-Hamid, Hoda;
    • Bader, Patricia;
    • McCracken, Elizabeth;
    • Niyazov, Dmitriy;
    • Leppig, Kathleen;
    • Thiese, Heidi;
    • Hummel, Marybeth;
    • Alexander, Nora;
    • Gorski, Jerome;
    • Kussmann, Jennifer
    Publication type:
    Article
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    KCNK3 Mutation Causes Altered Immune Function in Pulmonary Arterial Hypertension Patients and Mouse Models.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 5014, doi. 10.3390/ijms22095014
    By:
    • West, James D.;
    • Austin, Eric D.;
    • Rizzi, Elise M.;
    • Yan, Ling;
    • Tanjore, Harikrishna;
    • Crabtree, Amber L.;
    • Moore, Christy S.;
    • Muthian, Gladson;
    • Carrier, Erica J.;
    • Jacobson, David A.;
    • Hamid, Rizwan;
    • Kendall, Peggy L.;
    • Majka, Susan;
    • Rathinasabapathy, Anandharajan;
    • Bonnet, Sébastien
    Publication type:
    Article
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