অনুসন্ধান ফলাফলগুলি - Thomas Besnard

ফলাফল পরিমার্জন করুন
  1. 1
    Experience of targeted Usher exome sequencing as a clinical test

    Experience of targeted Usher exome sequencing as a clinical test অনুযায়ী Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, José M. Millán, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux

    প্রকাশিত 2013
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  2. 2
    Non-USH2A mutations in USH2 patients

    Non-USH2A mutations in USH2 patients অনুযায়ী Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet, Patrick Calvas, Christian Hamel, Hélène Dollfus, Geneviève Lina‐Granade, James Lespinasse, Albert David, Bertrand Isidor, G Morin, Sue Malcolm, Sylvie Tuffery‐Giraud, Mireille Claustres, Anne‐Françoise Roux

    প্রকাশিত 2011
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  3. 3
    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation অনুযায়ী Jean‐Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Guéguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, E. Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne‐Françoise Roux, Benjamin Cogné, David Baux

    প্রকাশিত 2023
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Revisão
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  4. 4
    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

    De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive অনুযায়ী Mari Tokita, Alicia Braxton, Yunru Shao, Andrea M. Lewis, Marie Vincent, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Xénia Latypova, Stéphane Bézieau, Pengfei Liu, Connie S. Motter, Catherine Ward Melver, Nathaniel H. Robin, Elena Infante, Marianne McGuire, Areeg El‐Gharbawy, Rebecca O. Littlejohn, Scott D. McLean, Weimin Bi, Carlos A. Bacino, Seema R. Lalani, Daryl A. Scott, Christine M. Eng, Yaping Yang, Christian P. Schaaf, Magdalena Walkiewicz

    প্রকাশিত 2016
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  5. 5
    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability

    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability অনুযায়ী Bertrand Isidor, Sébastien Küry, Jill A. Rosenfeld, Thomas Besnard, Sébastien Schmitt, Shelagh Joss, Sally Davies, Robert Roger Lebel, Alex Henderson, Christian P. Schaaf, Haley Streff, Yaping Yang, Vani Jain, Nodoka Chida, Xénia Latypova, Cédric Le Caignec, Benjamin Cogné, Sandra Mercier, Marie Vincent, Estelle Colin, Dominique Bonneau, Anne‐Sophie Denommé‐Pichon, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Amélie Piton, Christian Dina, Audrey Donnart, Pierre Lindenbaum, Éric Charpentier, Richard Redon, Kenji Iemura, Masanori Ikeda, Kozo Tanaka, Stéphane Bézieau

    প্রকাশিত 2016
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  6. 6
    Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

    Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases অনুযায়ী Quentin Testard, Xavier Vanhoye, Kévin Yauy, Marie-Emmanuelle Naud, Gaëlle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Geneviève, Vincent Gâtinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérenice Herve, François Vialard, Inès Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, Olivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thévenon

    প্রকাশিত 2022
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  7. 7
    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectode... অনুযায়ী Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Flora Bréhéret, Eva Trochu, Solène Conrad, Marie Vincent, Wallid Deb, X. Balguérie, S. Barbarot, Geneviève Baujat, Tawfeg Ben‐Omran, A.‐C. Bursztejn, Virginie Carmignac, Alexandre Datta, A. Delignières, Laurence Faivre, Betty Gardie, Jean‐Louis Guéant, Paul Kuentz, Marion Lenglet, Marie‐Cécile Nassogne, V. Ramaekers, Rhonda E. Schnur, Yue Si, Erin Torti, Julien Thévenon, P. Vabres, Lionel Van Maldergem, Dorothea Wand, Arnaud Wiedemann, Bertrand Cariou, Richard Redon, Antonin Lamazière, Stéphane Bézieau, François Feillet, Bertrand Isidor

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  8. 8
    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features অনুযায়ী Jing Zhang, Tomasz Gambin, Bo Yuan, Przemysław Szafrański, Jill A. Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Makanko Komara, Bassam R. Ali, Elizabeth Roeder, Laura McAuley, Daniel Roy, David K. Manchester, Pilar Magoulas, Lauren E. King, Vickie Hannig, Dominique Bonneau, Anne‐Sophie Denommé‐Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A. Ward, Sau Wai Cheung, Weimin Bi, Christine M. Eng, James R. Lupski, Yaping Yang, Ankita Patel, Seema R. Lalani, Fan Xia, Paweł Stankiewicz

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  9. 9
    THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

    THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder অনুযায়ী Martin Broly, Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard, Wallid Deb, Declan O’Rourke, Júlia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan E. Shamseldin, Saeed M Al-Tala, Fowzan S. Alkuraya, A. S. Leon, Rosa Laura E. van Loon, Alessandra Ferlini, Mariabeatrice Sanchini, Stefania Bigoni, Andrea Ciorba, Hans van Bokhoven, Zafar Iqbal, Almundher Al‐Maawali, Fathiya Al-Murshedi, Anuradha Ganesh, Watfa Al‐Mamari, Sze Chern Lim, Lynn Pais, Natasha J. Brown, Saima Riazuddin, Stéphane Bézieau, Dragony Fu, Bertrand Isidor, Benjamin Cogné, Mitchell R. O’Connell

    প্রকাশিত 2022
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  10. 10
    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder অনুযায়ী Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Jonas Denecke, Simon Edvardson, Estelle Colin, Alexander P.A. Stegmann, Erica H. Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah‐Politi, Tim M. Strom, Jill A. Rosenfeld, Yaping Yang, Jennifer E. Posey, LaDonna Immken, Nelly Jouayed Oundjian, Katherine L. Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda Schieving, Ana M. Claasen, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey, Han G. Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R. Lupski, Hans‐Jürgen Kreienkamp

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  11. 11
    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures অনুযায়ী Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane‐Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding‐Byth, Amy L. Schneider, Geoffrey Wallace, Aaron B.I. Rosen, Susan Schelley, Gregory M. Enns, Pierre Corre, Joline Dalton, Sandra Mercier, Xénia Latypova, Sébastien Schmitt, Edwin R. Guzman, Christine Moore, Louise Bier, Erin L. Heinzen, Peter Karachunski, Natasha Shur, Theresa A. Grebe, Alice Basinger, Joanne Nguyen, Stéphane Bézieau, Klaas J. Wierenga, Jonathan A. Bernstein, Ingrid E. Scheffer, Jill A. Rosenfeld, Heather C. Mefford, Bertrand Isidor, David B. Goldstein

    প্রকাশিত 2016
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  12. 12
    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease অনুযায়ী Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J.L. Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Hélène Dreau, Melissa M. Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean‐Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus‐Michael Debatin, Richard Redon, Stéphane Bézieau, Brigitte Bressac–de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard van Wijk, Joachim R. Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C. Taylor, Yannick Arlot‐Bonnemains, Richard J. Kahnoski, Anne‐Paule Gimenez‐Roqueplo, Holger Cario, Betty Gardie

    প্রকাশিত 2018
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  13. 13
    Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

    Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations অনুযায়ী Sandra Mercier, Sébastien Küry, Emmanuelle Salort‐Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou‐Hanna, Flora Bréhéret, Perrine Brunelle, Florence Caillon, B. Chabrol, Valérie Cormier‐Daire, Albert David, B. Eymard, Laurence Faivre, Dominique Figarella‐Branger, Emmanuelle Fleurence, Mythily Ganapathi, Romain K. Gherardi, Alice Goldenberg, Antoine Hamel, Jeanine Igual, Alan D. Irvine, Dominique Israëł-Biet, Caroline Kannengiesser, Christian Laboisse, Cédric Le Caignec, Jean-Yves Mahé, S. Mallet, Stuart A. MacGowan, Maeve A. McAleer, W.H. Irwin McLean, C. Méni, Arnold Münnich, Jean-Marie Mussini, Péter L. Nagy, Jeffrey G. Odel, Gráinne M. O’Regan, Yann Péréon, Julie Perrier, Juliette Piard, E. Puzenat, Jacinda B. Sampson, Frances J.D. Smith, Nadem Soufir, Kurenai Tanji, Christel Thauvin, Christina Ulane, Rosemarie M. Watson, Nonhlanhla P. Khumalo, Bongani M. Mayosi, S. Barbarot, Stéphane Bézieau

    প্রকাশিত 2015
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  14. 14
    De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

    De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder অনুযায়ী Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir Naeem Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William J. Craigen, Stephan Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Éric Bieth, Laurence Perrin‐Sabourin, Marie‐Line Jacquemont, Megan T. Cho, Elizabeth Roeder, Anne‐Sophie Denommé‐Pichon, Kristin G. Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A. Shaw, Ankita Patel, Janice Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly Nugent, James B. Gibson, Benjamin Cogné, James R. Lupski, Holly A.F. Stessman, Evan E. Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A. Rosenfeld, Peter‐Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  15. 15
    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia অনুযায়ী Claire Guissart, Xénia Latypova, Paul Rollier, Tahir Naeem Khan, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, Susanne Kjærgaard, Sarah Weckhuysen, Gaëtan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G. Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon G. Sattler, Irman Forghani, Isabelle Thiffault, Christine M. Freitag, Deborah Barbouth, Maxime Cadieux‐Dion, Rebecca Willaert, María J. Guillen Sacoto, Nicole P. Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Karlowicz, Jean‐François Deleuze, Monica H. Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, M. Kœnig, Erica E. Davis, Laurent Pasquier, Sébastien Küry

    প্রকাশিত 2018
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  16. 16
    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder অনুযায়ী Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander P.A. Stegmann, Richard H. van Jaarsveld, Koen L.I. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker‐Touw, Sjoerd J.B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch‐Andersen, Wallid Deb, Thomas Besnard, Marleen Simon, Karin Huijsdens–van Amsterdam, Nienke E. Verbeek, Dena R. Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koenraad Devriendt, Anneleen Boogaerts, Marjolein H. Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. de Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cuscó, Eulàlia Rovira‐Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frédéric Tran Mau‐Them, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Stéphane Bézieau, Benjamin Cogné

    প্রকাশিত 2022
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  17. 17
    Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

    Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features অনুযায়ী Teresa Santiago‐Sim, Lindsay C. Burrage, Frédéric Ebstein, Mari Tokita, Marcus J. Miller, Weimin Bi, Alicia Braxton, Jill A. Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna Immken, Rebecca O. Littlejohn, Elizabeth Roeder, Bülent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R. Lemke, Orly Elpeleg, Bassam Abu‐Libdeh, Kiely N. James, Jennifer L. Silhavy, Mahmoud Y. Issa, Maha S. Zaki, Joseph G. Gleeson, John R. Seavitt, Mary E. Dickinson, M. Cecilia Ljungberg, Sara Wells, Sara Johnson, Lydia Teboul, Christine M. Eng, Yaping Yang, Peter‐Michael Kloetzel, Jason D. Heaney, Magdalena Walkiewicz, Zaid Afawi, Rudi Balling, Nina Barišić, Stéphanie Baulac, Dana Craiu, Peter De Jonghe, Rosa Guerrero, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Johanna Jähn, Karl Martin Klein, Eric LeGuern, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Arvid Suls, Rikke S. Møller, Pasquale Striano, Yvonne G. Weber, Federico Zara

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  18. 18
    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway অনুযায়ী Justyna A. Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C. Mefford, Jennifer N. Dines, Katie Golden‐Grant, Katrina M. Dipple, Amanda S. Freed, Kathleen A. Leppig, Megan K. Dishop, David Mowat, Bruce Bennetts, Andrew J. Gifford, Martin Weber, Anna F. Lee, Cornelius F. Boerkoel, Tina M. Bartell, Catherine Ward‐Melver, Thomas Besnard, Florence Petit, Iben Bache, Zeynep Tümer, Marie Denis-Musquer, Madeleine Joubert, Jéléna Martinovic, Claire Bénéteau, Arnaud Molin, Dominique Carles, Gwenaëlle André, Éric Bieth, Nicolas Chassaing, Louise Devisme, Lara Chalabreysse, Laurent Pasquier, Véronique Secq, Massimiliano Don, Maria ­Orsaria, Chantal Missirian, Jérémie Mortreux, Damien Sanlaville, Linda Pons, Sébastien Küry, Stéphane Bézieau, Jean-Michel Liet, Nicolas Joram, Tiphaine Bihouée, Daryl A. Scott, Chester Brown, Fernando Scaglia, Anne Chun-Hui Tsai, Dorothy K. Grange, John A. Phillips, Jean P. Pfotenhauer, Shalini N. Jhangiani, Claudia Gonzaga‐Jauregui, Wendy K. Chung, Galen M. Schauer, Mark Lipson, Catherine L. Mercer, Arie van Haeringen, Qian Liu, Edwina J. Popek, Zeynep H. Coban Akdemir, James R. Lupski, Przemysław Szafrański, Bertrand Isidor, Cédric Le Caignec, Paweł Stankiewicz

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  19. 19
    PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

    PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production অনুযায়ী Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka‐Turski, Tianyun Wang, Tzung‐Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M. W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley C. Adès, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie‐José H. van den Boogaard, Jennifer Wambach, D.J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan C. Towne, Kristine Bachman, Andrea Seeley, Anita Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hákon Hákonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René G. Feichtinger, Johannes A. Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François V. Bolduc, Elke Krüger, Stéphane Bézieau

    প্রকাশিত 2023
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  20. 20
    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders অনুযায়ী Ivana Lessel, Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar De La Calle-Martin, Valeria Capra, Paúl Cárdenas, Céline Chappé, Hey Chong, Benjamin Cogné, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K. Fitzgerald, Silvana Gangi, Jaya K. George‐Abraham, Müge Güçsavaş‐Çalıkoğlu, Tobias B. Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay Jin, Alexander A.L. Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, E Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M. Leal, Juha Leppälä, Sharon Luu, Gholson J. Lyon, Suneeta Madan-Khetarpal, Maria Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menéndez, Chantal F. Morel, Sue Moyer Harasink, Dayna‐Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew Pastore, Yezmin Perilla‐Young, Konrad Platzer, Nina Powell‐Hamilton, Rachel Rabin, Aisha Rekab, Raíssa Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer L. Sullivan, Katalin Szakszon, Queenie K.‐G. Tan, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel

    প্রকাশিত 2025
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:

অনুসন্ধান সাধনীগুলি: