অনুসন্ধান ফলাফলগুলি - Anne Ronan

  • প্রদর্শন 1 - 12 ফলাফল এর 12
ফলাফল পরিমার্জন করুন
  1. 1
    Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

    Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region অনুযায়ী Anne Ronan, K Fagan, Louise Christie, Jeffrey M. Conroy, Norma J. Nowak, Gillian Turner

    প্রকাশিত 2007
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Carta
    তালিকাভুক্ত করুন
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  2. 2
    Fatal renal failure caused by diethylene glycol in paracetamol elixir: the Bangladesh epidemic

    Fatal renal failure caused by diethylene glycol in paracetamol elixir: the Bangladesh epidemic অনুযায়ী Mohammed Hanif, Magd Almoataz Billah Mobarak, Anne Ronan, Md. Anisur Rahman, Jeremiah Donovan, Michael L. Bennish

    প্রকাশিত 1995
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  3. 3
    A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

    A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing অনুযায়ী Benjamin Kamien, Anne Ronan, Gemma Poke, Ingrid Sinnerbrink, Gareth Baynam, Michelle C. Ward, William T. Gibson, Tracy Dudding‐Byth, Rodney J. Scott

    প্রকাশিত 2018
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Revisão
    তালিকাভুক্ত করুন
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  4. 4
    Genetic Basis of Childhood Cardiomyopathy

    Genetic Basis of Childhood Cardiomyopathy অনুযায়ী Richard D. Bagnall, Emma S. Singer, Julie Wacker, N. Nowak, Jodie Ingles, Ingrid King, Ivan Macciocca, Joshua Crowe, Anne Ronan, Robert G. Weintraub, Christopher Semsarian

    প্রকাশিত 2022
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  5. 5
    Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

    Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy অনুযায়ী Richard D. Bagnall, Jodie Ingles, Marcel E. Dinger, Mark J. Cowley, Samantha Barratt Ross, André E. Minoche, Sean Lal, Christian Turner, Alison Colley, Sulekha Rajagopalan, Yemima Berman, Anne Ronan, Diane Fatkin, Christopher Semsarian

    প্রকাশিত 2018
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  6. 6
    Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

    Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib অনুযায়ী Stéphanie Maupetit‐Mehouas, Virginie Mariot, Christelle Reynès, Guylène Bertrand, François Feillet, Jean‐Claude Carel, D. Simon, H. Bihan, Vincent Gajdos, Eglantine Ferrand Devouge, S. Shenoy, P. Agbo-Kpati, Anne Ronan, Catherine Naud-Saudreau, Anne Lienhardt, Caroline Silve, Agnès Linglart

    প্রকাশিত 2010
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  7. 7
    Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

    Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis অনুযায়ী Lisa Ewans, André E. Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander P. Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C. Adès, Alison Colley, Carolyn Ellaway, Carey‐Anne Evans, Mary‐Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P. Kirk, Michelle Lipke, David Mowat, Elizabeth E. Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie‐Christine Morel‐Kopp, Michael Field, Michael F. Buckley, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli

    প্রকাশিত 2022
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  8. 8
    A rare splice-site variant in <i>TNNT2</i>: the need for ancestral diversity in genomic reference data sets

    A rare splice-site variant in <i>TNNT2</i>: the need for ancestral diversity in genomic reference data sets অনুযায়ী Alexandra Butters, Kate Thomson, Franki Harrington, Natasha Henden, Karen McGuire, Alicia B. Byrne, Samantha J. Bryen, Kathryn A. McGurk, Megan Leask, Michael J. Ackerman, J. Atherton, J. Martijn Bos, Colleen Caleshu, Sharlene M. Day, Kyla Dunn, Ian Hayes, Jyh‐Ming Jimmy Juang, Julie McGaughran, N. Nowak, Victoria N. Parikh, Anne Ronan, Christopher Semsarian, Jil C. Tardiff, Marianne Tiemensma, Tony R. Merriman, James S. Ware, Jonathan R. Skinner, Daniel G. MacArthur, Owen M. Siggs, Richard D. Bagnall, Jodie Ingles

    প্রকাশিত 2025
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  9. 9
    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction অনুযায়ী Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, Anita Rauch, Katharina Steindl, Eirik Frengen, Doriana Misceo, Christeen Ramane J. Pedurupillay, Petter Strømme, Jill A. Rosenfeld, Yunru Shao, William J. Craigen, Christian P. Schaaf, David Rodriguez‐Buritica, Laura S. Farach, Jennifer Friedman, Perla Thulin, Scott D. McLean, Kimberly Nugent, Jenny Morton, Jillian Nicholl, Joris Andrieux, Asbjørg Stray‐Pedersen, Pascal Chambon, Sophie Patrier, Sally Ann Lynch, Susanne Kjærgaard, Pernille Mathiesen Tørring, Charlotte Brasch‐Andersen, Anne Ronan, Arie van Haeringen, Peter J. Anderson, Zöe Powis, Han G. Brunner, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W.M. van Bon, Stefan H. Lelieveld, Christian Gilissen, Willy M. Nillesen, Lisenka E.L.M. Vissers, Jozef Gécz, David A. Koolen, Giuseppe Testa, Bert B.A. de Vries

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  10. 10
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome অনুযায়ী Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

    প্রকাশিত 2022
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  11. 11
    <i>PURA-</i> Related Developmental and Epileptic Encephalopathy

    <i>PURA-</i> Related Developmental and Epileptic Encephalopathy অনুযায়ী Katrine M. Johannesen, Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders, Sandra Whalen, Boris Keren, Julien Buratti, Thomas Courtin, Klaas J. Wierenga, Bertrand Isidor, Amélie Piton, Laurence Faivre, Aurore Garde, Sébastien Moutton, Frédéric Tran Mau‐Them, Anne‐Sophie Denommé‐Pichon, Christine Coubes, Austin Larson, Michael J. Esser, Juan Pablo Appendino, Walla Al‐Hertani, Beatriz Gamboni, Alejandra Mampel, Lía Mayorga, Alessandro Orsini, Alice Bonuccelli, Agnese Suppiej, Julien Van‐Gils, Julie Vogt, Simona Damioli, Lucio Giordano, Stéphanie Moortgat, Elaine Wirrell, Sarah Hicks, Usha Kini, Nathan Noble, Helen Stewart, Shailesh Asakar, Julie S. Cohen, Sakkubai Naidu, Ashley Collier, Eva H. Brilstra, Mindy H. Li, Casey Brew, Stefania Bigoni, Davide Ognibene, Elisa Ballardini, Claudia Ruivenkamp, Raffaella Faggioli, Alexandra Afenjar, Diana Rodriguez, David Bick, Devorah Segal, David Coman, Boudewijn Gunning, Orrin Devinsky, Laurie Demmer, Theresa A. Grebe, Dario Pruna, Ida Cursio, Lynn Greenhalgh, Claudio Graziano, Rahul Raman Singh, Gaetano Cantalupo, Marjolaine Willems, Sangeetha Yoganathan, Fernanda Veiga de Góes, Richard J. Leventer, Davide Colavito, Sara Olivotto, Barbara Scelsa, Andrea Andrade, Kelly Ratke, F Tokarz, Atiya Khan, Clothilde Ormières, William Benko, Karen Keough, Sotirios Keros, Shanawaz Hussain, Ashlea Franques, Felicia Varsalone, Sabine Grønborg, Cyril Mignot, Delphine Héron, Caroline Nava, Arnaud Isapof, Felippe Borlot, Robyn Whitney, Anne Ronan, Nicola Foulds, Marta Somorai, John F. Brandsema, Katherine L. Helbig, Ingo Helbig, Xilma R. Ortiz‐González, Holly Dubbs, Antonio Vitobello

    প্রকাশিত 2021
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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  12. 12
    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i> অনুযায়ী Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami, Amytice Mirchi, Stéphan Saïkali, Luan T. Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M.L. van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T. Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L. Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L. Bonkowsky, Coriene E. Catsman‐Berrevoets, Pedro Soares Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak‐Białek, Ingeborg Krägeloh‐Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atık, Brenda Banwell, William Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klára Brožová, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice M. Fletcher, María Eugenia García, Paolo Gasparini, Janina Gburek‐Augustat, Dolores González Morón, Aline I. Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M. Hobson, A. Micheil Innes, Marcelo Kauffman, Susan M. Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, W. McClintock, Meriel McEntagart, Fiona McKenzie, Serge B. Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando Montón, Sébastien Moutton, Raymond P. Murphy, Miriam Nickel, Hüseyin Önay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Hélio Pedro, Sandra Pekić, M. Pineda, Amy Pizzino, Barbara Plecko, Bwee Tien Poll‐The, Vera Popović, D. Rating, Marie‐France Rioux, N. Rodríguez-Espinosa, Anne Ronan, John R. Østergaard, Elsa Rossignol, Rocío Sánchez‐Carpintero, Anna Schossig, Nesrin Şenbil, Laura Roos, Cathy A. Stevens, Matthis Synofzik, László Sztriha

    প্রকাশিত 2020
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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