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Items: 1 to 20 of 32

1.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380
PMCID:
PMC10994533
2.
Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina
Genes (Basel) 2023 Jun; 14(6): 1179. Published online 2023 May 29. doi: 10.3390/genes14061179
PMCID:
PMC10297832
3.
Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F. Netter, Lina A. Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig, Niels Decher, Eric Schulze-Bahr
Int J Mol Sci. 2022 Nov; 23(22): 14215. Published online 2022 Nov 17. doi: 10.3390/ijms232214215
PMCID:
PMC9693521
4.
Theresa Göbel, Lea Berninger, Andrea Schlump, Bernd Feige, Kimon Runge, Kathrin Nickel, Miriam A. Schiele, Ludger Tebartz van Elst, Alrun Hotz, Svenja Alter, Katharina Domschke, Andreas Tzschach, Dominique Endres
J Neural Transm (Vienna) 2022; 129(11): 1387–1391. Published online 2022 Oct 7. doi: 10.1007/s00702-022-02544-y
PMCID:
PMC9550762
5.
Oliver Murch, Vani Jain, Andreas Benneche, Kay Metcalfe, Emma Hobson, Katrina Prescott, Kate Chandler, Neeti Ghali, Jenny Carmichael, Nicola C. Foulds, Julie Paulsen, Marie F. Smeland, Siren Berland, Andrew E. Fry
Eur J Hum Genet. 2022 Jan; 30(1): 95–100. Published online 2021 Oct 14. doi: 10.1038/s41431-021-00961-3
PMCID:
PMC8738758
6.
Hayden A. M. Hatch, Molly H. O’Neil, Robert W. Marion, Julie Secombe, Lisa H. Shulman
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2021 Oct; 185(10): 2951–2958. Published online 2021 Jun 4. doi: 10.1002/ajmg.a.62381
PMCID:
PMC8446302
7.
Frederik Braun, Andreas Hentschel, Albert Sickmann, Theodore Marteau, Swantje Hertel, Fabian Förster, Holger Prokisch, Matias Wagner, Saskia Wortmann, Adela Della Marina, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt
Int J Mol Sci. 2021 Aug; 22(15): 7835. Published online 2021 Jul 22. doi: 10.3390/ijms22157835
PMCID:
PMC8345956
8.
Víctor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Bjornsson, Lisa Bradley, Angela F. Brady, Elise Brischoux-Boucher, Han Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, Maria Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchese, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoit, Damien Lederer, Siddharth Banka
Genet Med. 2021; 23(7): 1202–1210. Published online 2021 Mar 5. doi: 10.1038/s41436-021-01119-8
PMCID:
PMC8257478
9.
Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Orphanet J Rare Dis. 2021; 16: 136. Published online 2021 Mar 18. doi: 10.1186/s13023-021-01744-1
PMCID:
PMC7977188
10.
Chunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, Justine Rousseau, Ah Jung Heo, Katherine Neas, Brett H. Graham, Jill A. Rosenfeld, Carlos A. Bacino, Matias Wagner, Maren Wenzel, Fuad Al Mutairi, Hamad Al Deiab, Joseph G. Gleeson, Valentina Stanley, Maha S. Zaki, Yong Tae Kwon, Michel R. Leroux, Philippe M. Campeau
Am J Hum Genet. 2021 Jan 7; 108(1): 134–147. Published online 2020 Dec 18. doi: 10.1016/j.ajhg.2020.11.018
PMCID:
PMC7820726
11.
Risa Tona, Ivan A. Lopez, Cristina Fenollar-Ferrer, Rabia Faridi, Claudio Anselmi, Asma A. Khan, Mohsin Shahzad, Robert J. Morell, Shoujun Gu, Michael Hoa, Lijin Dong, Akira Ishiyama, Inna A. Belyantseva, Sheikh Riazuddin, Thomas B. Friedman
Genes (Basel) 2020 Oct; 11(10): 1122. Published online 2020 Sep 24. doi: 10.3390/genes11101122
PMCID:
PMC7598720
12.
Tenghui Wu, Fei Yin, Shiqi Guang, Fang He, Li Yang, Jing Peng
Orphanet J Rare Dis. 2020; 15: 129. Published online 2020 May 28. doi: 10.1186/s13023-020-01401-z
PMCID:
PMC7254680
13.
Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulou
Brain. 2020 Jan; 143(1): 112–130. Published online 2019 Dec 3. doi: 10.1093/brain/awz374
PMCID:
PMC6935753
14.
Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, Praveen K. Raju, Alexej Knaus, Sian Ellard, Gabriela Jones, Baiba Lace, Justine Rousseau, Norbert Fonya Ajeawung, Atsushi Kamei, Gaku Minase, Manami Akasaka, Nami Araya, Eriko Koshimizu, Jenneke van den Ende, Florian Erger, Janine Altmüller, Zita Krumina, Jurgis Strautmanis, Inna Inashkina, Janis Stavusis, Areeg El-Gharbawy, Jessica Sebastian, Ratna Dua Puri, Samarth Kulshrestha, Ishwar C. Verma, Esther M. Maier, Tobias B. Haack, Anil Israni, Julia Baptista, Adam Gunning, Jill A. Rosenfeld, Pengfei Liu, Marieke Joosten, María Eugenia Rocha, Mais O. Hashem, Hesham M. Aldhalaan, Fowzan S. Alkuraya, Satoko Miyatake, Naomichi Matsumoto, Peter M. Krawitz, Elsa Rossignol, Taroh Kinoshita, Philippe M. Campeau
Am J Hum Genet. 2019 Aug 1; 105(2): 384–394. Published online 2019 Jun 27. doi: 10.1016/j.ajhg.2019.05.019
PMCID:
PMC6698938
15.
Eliza Gordon-Lipkin, Julie S. Cohen, Siddharth Srivastava, Bruno P. Soares, Eric Levey, Ali Fatemi
J Child Neurol.
Published in final edited form as: J Child Neurol. 2018 Nov; 33(13): 825–831. Published online 2018 Sep 5. doi: 10.1177/0883073818791099
PMCID:
PMC6188822
16.
Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F. Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J. Rodenburg, Dzhamilja Safiulina, Tim M. Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B. Haack, Katrin Õunap
Eur J Hum Genet. 2018 Mar; 26(3): 407–419. Published online 2018 Jan 17. doi: 10.1038/s41431-017-0001-6
PMCID:
PMC5838984
17.
Almundher Al-Maawali, Brenda J. Barry, Anna Rajab, Malak El-Quessny, Ann Seman, Stephanie Newton Coury, A. James Barkovich, Edward Yang, Christopher A. Walsh, Ganeshwaran H. Mochida, Joan M. Stoler
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2016 Feb; 170A(2): 435–440. Published online 2015 Oct 13. doi: 10.1002/ajmg.a.37422
PMCID:
PMC5315085
18.
AU Rehman, TB Friedman, AJ Griffith
Oral Dis.
Published in final edited form as: Oral Dis. 2017 Jul; 23(5): 551–558. Published online 2016 Jul 11. doi: 10.1111/odi.12516
PMCID:
PMC5136515
19.
Amina Bakhchane, Majida Charif, Sara Salime, Redouane Boulouiz, Halima Nahili, Rachida Roky, Guy Lenaers, Abdelhamid Barakat
PLoS One. 2015; 10(9): e0138072. Published online 2015 Sep 15. doi: 10.1371/journal.pone.0138072
PMCID:
PMC4570774
20.
Akemi J. Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo Garnica, Edward Gratz, Matthew Deardorff, Alisha Wilkins, Xilma Ortiz-Gonzalez, Katherine Mathews, Karin Panzer, Eva Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker-Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung
Am J Hum Genet. 2015 Sep 3; 97(3): 457–464. Published online 2015 Aug 20. doi: 10.1016/j.ajhg.2015.07.014
PMCID:
PMC4564988

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