학술논문
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공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
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위반 시 제재
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'학술논문'
에서 검색결과 18건 | 목록
1~20
Academic Journal
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
Academic Journal
Dong Li; Qin Wang; Allan Bayat; Mark R. Battig; Yijing Zhou; Daniëlle G.M. Bosch; Gijs van Haaften; Leslie Granger; Andrea K. Petersen; Luis A. Pérez-Jurado; Gemma Aznar-Laín; Anushree Aneja; Miroslava Hancarova; Sarka Bendova; Martin Schwarz; Radka Kremlikova Pourova; Zdenek Sedlacek; Beth A. Keena; Michael E. March; Cuiping Hou; Nora O’Connor; Elizabeth J. Bhoj; Margaret H. Harr; Gabrielle Lemire; Kym M. Boycott; Meghan Towne; Megan Li; Mark Tarnopolsky; Lauren Brady; Michael J. Parker; Hanna Faghfoury; Lea Kristin Parsley; Emanuele Agolini; Maria Lisa Dentici; Antonio Novelli; Meredith Wright; Rachel Palmquist; Khanh Lai; Marcello Scala; Pasquale Striano; Michele Iacomino; Federico Zara; Annina Cooper; Timothy J. Maarup; Melissa Byler; Robert Roger Lebel; Tugce B. Balci; Raymond Louie; Michael Lyons; Jessica Douglas; Catherine Nowak; Alexandra Afenjar; Juliane Hoyer; Boris Keren; Saskia M. Maas; Mahdi M. Motazacker; Julian A. Martinez-Agosto; Ahna M. Rabani; Elizabeth M. McCormick; Marni J. Falk; Sarah M. Ruggiero; Ingo Helbig; Rikke S. Møller; Lino Tessarollo; Francesco Tomassoni Ardori; Mary Ellen Palko; Tzung-Chien Hsieh; Peter M. Krawitz; Mythily Ganapathi; Bruce D. Gelb; Vaidehi Jobanputra; Ashley Wilson; John Greally; Sébastien Jacquemont; Khadijé Jizi; Ange-Line Bruel; Chloé Quelin; Vinod K. Misra; Erika Chick; Corrado Romano; Donatella Greco; Alessia Arena; Manuela Morleo; Vincenzo Nigro; Rie Seyama; Yuri Uchiyama; Naomichi Matsumoto; Ryoji Taira; Katsuya Tashiro; Yasunari Sakai; Gökhan Yigit; Bernd Wollnik; Michael Wagner; Barbara Kutsche; Anna C.E. Hurst; Michelle L. Thompson; Ryan Schmidt; Linda Randolph; Rebecca C. Spillmann; Vandana Shashi; Edward J. Higginbotham; Dawn Cordeiro; Amanda Carnevale; Gregory Costain; Tayyaba Khan; Benoît Funalot; Frederic Tran Mau-Them; Luis Fernandez Garcia Moya; Sixto García-Miñaúr; Matthew Osmond; Lauren Chad; Nada Quercia; Diana Carrasco; Chumei Li; Amarilis Sanchez-Valle; Meghan Kelley; Mathilde Nizon; Brynjar O. Jensson; Patrick Sulem; Kari Stefansson; Svetlana Gorokhova; Tiffany Busa; Marlène Rio; Hamza Hadj Habdallah; Marion Lesieur-Sebellin; Jeanne Amiel; Véronique Pingault; Sandra Mercier; Marie Vincent; Christophe Philippe; Clemence Fatus-Fauconnier; Kathryn Friend; Rebecca K. Halligan; Sunita Biswas; Jane Rosser; Cheryl Shoubridge; Mark Corbett; Christopher Barnett; Jozef Gecz; Kathleen Leppig; Anne Slavotinek; Carlo Marcelis; Rolph Pfundt; Bert B.A. de Vries; Marjon A. van Slegtenhorst; Alice S. Brooks; Benjamin Cogne; Thomas Rambaud; Zeynep Tümer; Elaine H. Zackai; Naiara Akizu; Yuanquan Song; Hakon Hakonarson
The Journal of Clinical Investigation, Vol 134, Iss 1 (2024)
Academic Journal
Marketa Vlckova; Darina Prchalova; Pavel Zimmermann; Jana Haberlova; Sarka Bendova; Veronika Moslerova; Viktor Stranecky; Zdenek Sedlacek; Miroslava Hancarova
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Academic Journal
Tianyun Wang; Kendra Hoekzema; Davide Vecchio; Huidan Wu; Arvis Sulovari; Bradley P. Coe; Madelyn A. Gillentine; Amy B. Wilfert; Luis A. Perez-Jurado; Malin Kvarnung; Yoeri Sleyp; Rachel K. Earl; Jill A. Rosenfeld; Madeleine R. Geisheker; Lin Han; Bing Du; Chris Barnett; Elizabeth Thompson; Marie Shaw; Renee Carroll; Kathryn Friend; Rachael Catford; Elizabeth E. Palmer; Xiaobing Zou; Jianjun Ou; Honghui Li; Hui Guo; Jennifer Gerdts; Emanuela Avola; Giuseppe Calabrese; Maurizio Elia; Donatella Greco; Anna Lindstrand; Ann Nordgren; Britt-Marie Anderlid; Geert Vandeweyer; Anke Van Dijck; Nathalie Van der Aa; Brooke McKenna; Miroslava Hancarova; Sarka Bendova; Marketa Havlovicova; Giovanni Malerba; Bernardo Dalla Bernardina; Pierandrea Muglia; Arie van Haeringen; Mariette J. V. Hoffer; Barbara Franke; Gerarda Cappuccio; Martin Delatycki; Paul J. Lockhart; Melanie A. Manning; Pengfei Liu; Ingrid E. Scheffer; Nicola Brunetti-Pierri; Nanda Rommelse; David G. Amaral; Gijs W. E. Santen; Elisabetta Trabetti; Zdeněk Sedláček; Jacob J. Michaelson; Karen Pierce; Eric Courchesne; R. Frank Kooy; The SPARK Consortium; Magnus Nordenskjöld; Corrado Romano; Hilde Peeters; Raphael A. Bernier; Jozef Gecz; Kun Xia; Evan E. Eichler
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Academic Journal
BMC Medical Education, Vol 19, Iss 1, Pp 1-8 (2019)
Academic Journal
Darina Prchalova; Marketa Havlovicova; Katalin Sterbova; Viktor Stranecky; Miroslava Hancarova; Zdenek Sedlacek
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)
Academic Journal
Miroslava Hancarova; Davit Babikyan; Sarka Bendova; Susanna Midyan; Darina Prchalova; Gohar Shahsuvaryan; Viktor Stranecky; Tamara Sarkisian; Zdenek Sedlacek
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Academic Journal
Susan M Hiatt; Matthew B Neu; Ryne C Ramaker; Andrew A Hardigan; Jeremy W Prokop; Miroslava Hancarova; Darina Prchalova; Marketa Havlovicova; Jan Prchal; Viktor Stranecky; Dwight K C Yim; Zöe Powis; Boris Keren; Caroline Nava; Cyril Mignot; Marlene Rio; Anya Revah-Politi; Parisa Hemati; Nicholas Stong; Alejandro D Iglesias; Sharon F Suchy; Rebecca Willaert; Ingrid M Wentzensen; Patricia G Wheeler; Lauren Brick; Mariya Kozenko; Anna C E Hurst; James W Wheless; Yves Lacassie; Richard M Myers; Gregory S Barsh; Zdenek Sedlacek; Gregory M Cooper
PLoS Genetics, Vol 14, Iss 11, p e1007671 (2018)
Academic Journal
Tianyun Wang; Kendra Hoekzema; Davide Vecchio; Huidan Wu; Arvis Sulovari; Bradley P. Coe; Madelyn A. Gillentine; Amy B. Wilfert; Luis A. Perez-Jurado; Malin Kvarnung; Yoeri Sleyp; Rachel K. Earl; Jill A. Rosenfeld; Madeleine R. Geisheker; Lin Han; Bing Du; Chris Barnett; Elizabeth Thompson; Marie Shaw; Renee Carroll; Kathryn Friend; Rachael Catford; Elizabeth E. Palmer; Xiaobing Zou; Jianjun Ou; Honghui Li; Hui Guo; Jennifer Gerdts; Emanuela Avola; Giuseppe Calabrese; Maurizio Elia; Donatella Greco; Anna Lindstrand; Ann Nordgren; Britt-Marie Anderlid; Geert Vandeweyer; Anke Van Dijck; Nathalie Van der Aa; Brooke McKenna; Miroslava Hancarova; Sarka Bendova; Marketa Havlovicova; Giovanni Malerba; Bernardo Dalla Bernardina; Pierandrea Muglia; Arie van Haeringen; Mariette J. V. Hoffer; Barbara Franke; Gerarda Cappuccio; Martin Delatycki; Paul J. Lockhart; Melanie A. Manning; Pengfei Liu; Ingrid E. Scheffer; Nicola Brunetti-Pierri; Nanda Rommelse; David G. Amaral; Gijs W. E. Santen; Elisabetta Trabetti; Zdeněk Sedláček; Jacob J. Michaelson; Karen Pierce; Eric Courchesne; R. Frank Kooy; The SPARK Consortium; Magnus Nordenskjöld; Corrado Romano; Hilde Peeters; Raphael A. Bernier; Jozef Gecz; Kun Xia; Evan E. Eichler
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
Academic Journal
Dana E. Layo-Carris; Emily E. Lubin; Annabel K. Sangree; Kelly J. Clark; Emily L. Durham; Elizabeth M. Gonzalez; Sarina Smith; Rajesh Angireddy; Xiao Min Wang; Erin Weiss; Annick Toutain; Roberto Mendoza-Londono; Lucie Dupuis; Nadirah Damseh; Danita Velasco; Irene Valenzuela; Marta Codina-Solà; Catherine Ziats; Jaclyn Have; Katie Clarkson; Dora Steel; Manju Kurian; Katy Barwick; Diana Carrasco; Aditi I. Dagli; M. J. M. Nowaczyk; Miroslava Hančárová; Šárka Bendová; Darina Prchalova; Zdeněk Sedláček; Alica Baxová; Catherine Bearce Nowak; Jessica Douglas; Wendy K. Chung; Nicola Longo; Konrad Platzer; Chiara Klöckner; Luisa Averdunk; Dagmar Wieczorek; Ilona Krey; Christiane Zweier; Andre Reis; Tugce Balci; Marleen Simon; Hester Y. Kroes; Antje Wiesener; Georgia Vasileiou; Nikolaos M. Marinakis; Danai Veltra; Christalena Sofocleous; Konstantina Kosma; Joanne Traeger Synodinos; Konstantinos A. Voudris; Marie-Laure Vuillaume; Paul Gueguen; Nicolas Derive; Estelle Colin; Clarisse Battault; Billie Au; Martin Delatycki; Mathew Wallis; Lyndon Gallacher; Fatma Majdoub; Noor Smal; Sarah Weckhuysen; An-Sofie Schoonjans; R. Frank Kooy; Marije Meuwissen; Benjamin T. Cocanougher; Kathryn Taylor; Carolyn E. Pizoli; Marie T. McDonald; Philip James; Elizabeth R. Roeder; Rebecca Littlejohn; Nicholas A. Borja; Willa Thorson; Kristine King; Radka Stoeva; Manon Suerink; Esther Nibbeling; Stephanie Baskin; Gwenaël L. E. Guyader; Julie Kaplan; Candace Muss; Deanna Alexis Carere; Elizabeth J. K. Bhoj; Laura M. Bryant
Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Academic Journal
Sébastien Küry; Janelle E. Stanton; Geeske van Woerden; Tzung-Chien Hsieh; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas Johannes Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna Marta Hajdukowicz; Franziska Thiel; Sophie Möller; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Ingrid Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; C.M.L. (Nienke) Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay Swanson; Carrie Costin; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; MCV Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark Hamilton; Lisa Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna Maria Cueto-González; Eduardo Fidel Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah Jurgensmeyer; Anne M. McRae; Mathieu Kent Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Amélie Bosc-Rosati; Julien Marcoux; Marie-Pierre Bousquet; Jeremie Poschmann; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Arnaud Droit; Ype Elgersma; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Academic Journal
David Geneviève; Valentin Ruault; Pauline Burger; Johanna Gradels-Hauguel; Nathalie Ruiz-Pallares; Xtraordinaire Association; Rami Abou Jamra; Alexandra Afenjar; Yves Alembik; Jean-Luc Alessandri; Arpin Stéphanie; Giulia Barcia; Šárka Bendová; Ange-Line Bruel; Perrine Charles; Nicolas Chatron; Maya Chopra; Solène Conrad; Valérie Cormier-Daire; Auriane Cospain; Christine Coubes; Juliette Coursimault; Andrée Delahaye-Duriez; Martine Doco-Fenzy; William Dufour; Benjamin Durand; Camille ENGEL; Laurence Faivre; Fanny Ferroul; Mélanie FRADIN; Hélène Frenkiel; Carlo Fusco; Livia Garavelli; Aurore Garde; Bénédicte Gérard; David Germanaud; Louise Goujon; Aurélie Gouronc; Emmanuelle Ginglinger; Alice Goldenberg; Miroslava Hancarova; Delphine Héron; Bertrand Isidor; Nolwenn Jean Marçais; Boris Keren; Margarete Koch-Hogrebe; Paul Kuentz; Victoria Lamure; Anne-Sophie Lebre; François Lecoquierre; Natacha Lehman; Gaetan Lesca; Stanislas Lyonnet; Delphine Martin; Cyril Mignot; Teresa Neuhann; Gaël Nicolas; Mathilde Nizon; Florence Petit; Christophe Philippe; Amélie Piton; Marzia Pollazzon; Darina Prchalova; Audrey Putoux; Marlène RIO; Sophie Rondeau; Massimiliano Rossi; Quentin Sabbagh; Pascale Saugier-Veber; Ariane Schmetz; Julie Steffann; Christel Thauvin-Robinet; Annick Toutain; Frédéric Tran-Mau-Them; Gabriele Trimarchi; Marie Vincent; Marketa Vlckova; Dagmar Wieczorek; Marjolaine Willems; kevin yauy; Michaela Zelinová; Alban Ziegler; Boris Chaumette; Bekim Sadikovic; Jean-Louis Mandel
Academic Journal
Dana E. Layo-Carris; Emily E. Lubin; Annabel K. Sangree; Kelly J. Clark; Emily L. Durham; Elizabeth M. Gonzalez; Sarina Smith; Rajesh Angireddy; Xiao Min Wang; Erin Weiss; Annick Toutain; Roberto Mendoza-Londono; Lucie Dupuis; Nadirah Damseh; Danita Velasco; Irene Valenzuela; Marta Codina-Solà; Catherine Ziats; Jaclyn Have; Katie Clarkson; Dora Steel; Manju Kurian; Katy Barwick; Diana Carrasco; Aditi I. Dagli; M. J. M. Nowaczyk; Miroslava Hančárová; Šárka Bendová; Darina Prchalova; Zdeněk Sedláček; Alica Baxová; Catherine Bearce Nowak; Jessica Douglas; Wendy K. Chung; Nicola Longo; Konrad Platzer; Chiara Klöckner; Luisa Averdunk; Dagmar Wieczorek; Ilona Krey; Christiane Zweier; Andre Reis; Tugce Balci; Marleen Simon; Hester Y. Kroes; Antje Wiesener; Georgia Vasileiou; Nikolaos M. Marinakis; Danai Veltra; Christalena Sofocleous; Konstantina Kosma; Joanne Traeger Synodinos; Konstantinos A. Voudris; Marie-Laure Vuillaume; Paul Gueguen; Nicolas Derive; Estelle Colin; Clarisse Battault; Billie Au; Martin Delatycki; Mathew Wallis; Lyndon Gallacher; Fatma Majdoub; Noor Smal; Sarah Weckhuysen; An-Sofie Schoonjans; R. Frank Kooy; Marije Meuwissen; Benjamin T. Cocanougher; Kathryn Taylor; Carolyn E. Pizoli; Marie T. McDonald; Philip James; Elizabeth R. Roeder; Rebecca Littlejohn; Nicholas A. Borja; Willa Thorson; Kristine King; Radka Stoeva; Manon Suerink; Esther Nibbeling; Stephanie Baskin; Gwenaël L. E. Guyader; Julie Kaplan; Candace Muss; Deanna Alexis Carere; Elizabeth J. K. Bhoj; Laura M. Bryant
Eur J Hum Genet
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; ... (2024). Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), p. 1032. Springer Nature 10.1038/s41431-024-01659-y
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; ... (2024). Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), p. 1032. Springer Nature 10.1038/s41431-024-01659-y
Academic Journal
Miroslava Hancarova; Marketa Havlovicova; Martina Putzova; Jan Vseticka; Darina Prchalova; Viktor Stranecky; Zdenek Sedlacek
American Journal of Medical Genetics Part A. 179:2119-2123
Academic Journal
Miroslava Hancarova; Marcela Malikova; Michaela Kotrova; Jana Drabova; Marie Trkova; Zdenek Sedlacek
American Journal of Medical Genetics Part A. 176:1438-1442
Academic Journal
Zuzana Musova; Miroslava Hancarova; Marketa Havlovicova; Radka Pourova; Michal Hrdlicka; Josef Kraus; Marie Trkova; David Stejkal; Zdenek Sedlacek
Neuropsychiatric Disease and Treatment. 12:2367-2372
Academic Journal
Zuzana Slamova; Lusine Nazaryan-Petersen; Mana M. Mehrjouy; Jana Drabova; Miroslava Hancarova; Tatana Marikova; Drahuse Novotna; Marketa Vlckova; Zdenka Vlckova; Mads Bak; Zuzana Zemanova; Niels Tommerup; Zdenek Sedlacek
Human Mutation. 39:709-716
Chelsea Lowther; Mana M. Mehrjouy; Ryan L. Collins; Mads Bak; Olga Dudchenko; Harrison Brand; Huilin Wang; Malene B. Rasmussen; Huiya Gu; David Weisz; Lusine Nazaryan‐Petersen; Amanda S. Fjorder; Yuan Mang; Allan Lind-Thomsen; J M Medina; Xabier Calle; Anuja Chopra; Claus Hansen; Merete Bugge; Roeland Broekema; Teppo Varilo; Tiia Maria Luukkonen; J.J.M. Engelen; Angela Maria Vianna‐Morgante; Ana Carolina Fonseca; Juliana F. Mazzeu; Halinna Dornelles-Wawruk; Kikue Terada Abe; Jean‐Pierre Fryns; Kris Van Den Bogaert; Carolina Sismani; Constantia Aristidou; Paola Evangelidou; Albert Schinzel; Damien Sanlaville; Caroline Schluth‐Bolard; Vera M. Kalscheuer; Maren Wenzel; Hyung‐Goo Kim; Katrin Õunap; Laura Roht; Susanna Midyan; María Clara Bonaglia; Anna Lindstrand; Jesper Eisfeldt; Jesper Ottosson; Daniel Nilsson; Maria Pettersson; Elenice Ferreira Bastos; Evica Rajcan‐Separovic; Fatma Sılan; Frenny Sheth; Antonio Novelli; Eirik Frengen; Madeleine Fannemel; Petter Strømme; Nadja Kokalj Vokač; Cornelia Daumer‐Haas; Danilo Moretti‐Ferreira; Deise Helena de Souza; María A. Ramos-Arroyo; Maria M. Igoa; Lyudmila Angelova; Peter M. Kroisel; Graciela del Rey; Társis Paiva Vieira; Martha Lewis; Hao Wang; Jana Drabova; Markéta Havlovičová; Miroslava Hančárová; Zdeněk Sedláček; Ida Vogel; Tina Duelund Hjortshøj; Rikke S. Møller; Zeynep Tümer; Christina Fagerberg; Lilian Bomme Ousager; Bitten Schönewolf‐Greulich; Mathilde Lauridsen; Juliette Piard; Céline Pebrel‐Richard; Sylvie Jaillard; Nadja Ehmke; Eunice G. Stefanou; Czakó Marta; Kosztolányi György; Ashwin Dalal; Usha R. Dutta; Rashmi Shukla; Fortunato Lonardo; Orsetta Zuffardi; Gunnar Houge; Doriana Misceo; Shahid Mahmood Baig; Alina T. Midro; Natalia Wawrusiewicz‐Kurylonek; Isabel M. Carreira; Joana Barbosa Melo; Laura Rodriguez Martinez
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[AR] Miroslava Hancarova
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