يعرض 1 - 10 نتائج من 550 نتيجة بحث عن '"John M, Graham"', وقت الاستعلام: 1.21s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

    المؤلفون: Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee

    المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)

    مصطلحات موضوعية: KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling, Medicine, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1756-994X

    URL الوصول: https://doaj.org/article/e3306fa1990545148f66b913263d56ba

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  2. 2
    دورية أكاديمية
    Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

    المؤلفون: Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj

    المصدر: HGG Advances, Vol 4, Iss 1, Pp 100168- (2023)

    مصطلحات موضوعية: Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000860; https://doaj.org/toc/2666-2477

    URL الوصول: https://doaj.org/article/ddf394ee2a824e889ca80fd9964b128c

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  3. 3
    دورية أكاديمية
    A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures

    المؤلفون: Emma L. Veale, Alessia Golluscio, Katheryn Grand, John M. Graham, Alistair Mathie

    المصدر: Frontiers in Pharmacology, Vol 13 (2022)

    مصطلحات موضوعية: Kv2.1 channel, KCNB1, pathogenic variant, developmental delay, gain of function, guanxitoxin-1E, Therapeutics. Pharmacology, RM1-950

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fphar.2022.1093313/full; https://doaj.org/toc/1663-9812

    URL الوصول: https://doaj.org/article/48d5df39250d4195bac5fee05793b7ee

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  4. 4
    دورية أكاديمية
    Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

    المؤلفون: Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj

    المصدر: HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)

    مصطلحات موضوعية: PHF8, X-linked intellectual disability, orofacial clefting, epigenetic gene regulation, histone demethylation, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000185; https://doaj.org/toc/2666-2477

    URL الوصول: https://doaj.org/article/a51bea96ddd1445fa536cbf3b76cb27c

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  5. 5
    دورية أكاديمية
    Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

    المؤلفون: Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda

    المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)

    مصطلحات موضوعية: CRISPR, Genitopatellar syndrome, KAT6B‐related disorders, phenotypic spectrum, Say‐Barber‐Biesecker‐Young‐Simpson syndrome, variable expressivity, rare genetic diagnosis, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2324-9269

    URL الوصول: https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd

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  6. 6
    دورية أكاديمية
    FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei

    المؤلفون: Supreet K. Sahai, Rebecca E. Steiner, Margaret G. Au, John M. Graham, Noriko Salamon, Michael Ibba, Tyler M. Pierson

    المصدر: Annals of Clinical and Translational Neurology, Vol 5, Iss 9, Pp 1128-1133 (2018)

    مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2328-9503

    URL الوصول: https://doaj.org/article/43e4647c5fe14af28f7805a0655f19d9

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  7. 7
    دورية أكاديمية
    When moments matter: Finding answers with rapid exome sequencing

    المؤلفون: Zöe Powis, Kelly D. Farwell Hagman, Kirsten Blanco, Margaret Au, John M. Graham, Kathryn Singh, Natalie Gallant, Linda M. Randolph, Meghan Towne, Jesse Hunter, Deepali N. Shinde, Erika Palmaer, Brian Schoenfeld, Sha Tang

    المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)

    مصطلحات موضوعية: clinical utility, exome, genetic testing, rapid exome, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2324-9269

    URL الوصول: https://doaj.org/article/c271591af19847f898593fcb0772d0d8

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  8. 8
    Further clinical delineation of microcephaly‐capillary malformation syndrome

    المؤلفون: Julianne K. Postma, Jessica L. Zambonin, Ebtissal Khouj, Suad Alyamani, John M. Graham, Fowzan S. Alkuraya, Stephen Kundell, Melissa T. Carter

    المصدر: American Journal of Medical Genetics Part A. 188:3350-3357

    مصطلحات موضوعية: Genetics, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b4b7248eb6c97b6647132e909d792299
    https://doi.org/10.1002/ajmg.a.62936

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  9. 9
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    المؤلفون: Emma L, Veale, Alessia, Golluscio, Katheryn, Grand, John M, Graham, Alistair, Mathie

    المصدر: Frontiers in pharmacology. 13

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6fa2fb7fdaeefd7ed672a302c99a4946
    https://pubmed.ncbi.nlm.nih.gov/36618935

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  10. 10
    An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

    المؤلفون: Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P.Y. Billie Au, Rosanna Weksberg

    المصدر: AM J HUM GENET
    r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
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    مصطلحات موضوعية: DNA methylation signature, Kabuki syndrome, HNRNPK, RNA processing gene, epigenetics, DNA Methylation, Okamoto syndrome, neurodevelopmental disorder, Hematologic Diseases, Chromatin, Epigenesis, Genetic, episignature, Heterogeneous-Nuclear Ribonucleoprotein K, Phenotype, Vestibular Diseases, Face, Intellectual Disability, Genetics, Humans, Au-Kline syndrome, Abnormalities, Multiple, Genetics (clinical)

    وصف الملف: Print-Electronic; application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba1707a022519a64f5aad1953051153
    https://lirias.kuleuven.be/handle/20.500.12942/704570

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