U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 34

1.
Benedikt Frieg, Boris Görg, Nadine Homeyer, Verena Keitel, Dieter Häussinger, Holger Gohlke
PLoS Comput Biol. 2016 Feb; 12(2): e1004693. Published online 2016 Feb 2. doi: 10.1371/journal.pcbi.1004693
PMCID:
PMC4737493
2.
Derralynn A Hughes, Daniel G Bichet, Roberto Giugliani, Robert J Hopkin, Eva Krusinska, Kathleen Nicholls, Iacopo Olivotto, Ulla Feldt-Rasmussen, Norio Sakai, Nina Skuban, Gere Sunder-Plassmann, Roser Torra, William R Wilcox
J Med Genet. 2023 Jul; 60(7): 722–731. Published online 2022 Dec 21. doi: 10.1136/jmg-2022-108669
PMCID:
PMC10359570
3.
Mario C. Chang, Stephen J. Staklinski, Vinay R. Malut, Geraldine L. Pierre, Michael S. Kilberg, Matthew E. Merritt
Nutrients. 2023 Apr; 15(8): 1938. Published online 2023 Apr 18. doi: 10.3390/nu15081938
PMCID:
PMC10145675
4.
Neetu Krishnan, Patrick McMullan, Qingfen Yang, Alexzandrea N. Buscarello, Emily L. Germain-Lee
PLoS One. 2023; 18(1): e0280463. Published online 2023 Jan 20. doi: 10.1371/journal.pone.0280463
PMCID:
PMC9858345
5.
Stephen J. Staklinski, Mario C. Chang, Fang Yu, Kathleen Collins Ruff, David N. Franz, Zhijian Qian, Linda B. Bloom, Matthew E. Merritt, Robert McKenna, Michael S. Kilberg
J Biol Chem. 2022 Sep; 298(9): 102385. Published online 2022 Aug 17. doi: 10.1016/j.jbc.2022.102385
PMCID:
PMC9478401
6.
Rafael Romero-Becerra, Alfonso Mora, Elisa Manieri, Ivana Nikolic, Ayelén Melina Santamans, Valle Montalvo-Romeral, Francisco Miguel Cruz, Elena Rodríguez, Marta León, Luis Leiva-Vega, Laura Sanz, Víctor Bondía, David Filgueiras-Rama, Luis Jesús Jiménez-Borreguero, José Jalife, Barbara Gonzalez-Teran, Guadalupe Sabio
eLife. 2022; 11: e75250. Published online 2022 Aug 16. doi: 10.7554/eLife.75250
PMCID:
PMC9381040
7.
Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler
Genome Med. 2021; 13: 63. Published online 2021 Apr 19. doi: 10.1186/s13073-021-00870-6
PMCID:
PMC8056596
8.
Stephanie Efthymiou, Marina Dutra‐Clarke, Reza Maroofian, Rauan Kaiyrzhanov, Marcello Scala, Javeria Reza Alvi, Tipu Sultan, Marilena Christoforou, Thi Tuyet Mai Nguyen, Kshitij Mankad, Barbara Vona, Aboulfazl Rad, Pasquale Striano, Vincenzo Salpietro, Maria J. Guillen Sacoto, Maha S. Zaki, Joseph G. Gleeson, Philippe M. Campeau, Bianca E. Russell, Henry Houlden
Epilepsia. 2021 Feb; 62(2): e35–e41. Published online 2021 Jan 7. doi: 10.1111/epi.16801
PMCID:
PMC7898547
9.
Monica M. França, Alina German, Gustavo W. Fernandes, Xiao-Hui Liao, Antonio C. Bianco, Samuel Refetoff, Alexandra M. Dumitrescu
Thyroid. February 2021; 31(2): 202–207. Published online 2021 Feb 12. doi: 10.1089/thy.2020.0253
PMCID:
PMC7891200
10.
Anna R. Duncan, Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance Rodan, Jiahai Shi, Ann R. Seman, Emanuele Agolini, Antonio Novelli, Paolo Prontera, Maria J. Guillen Sacoto, Teresa Santiago-Sim, Aurélien Trimouille, Cyril Goizet, Mathilde Nizon, Ange-Line Bruel, Christophe Philippe, Patricia E. Grant, Monica H. Wojcik, Joan Stoler, Casie A. Genetti, Marieke F. van Dooren, Saskia M. Maas, Marielle Alders, Laurence Faivre, Arthur Sorlin, Grace Yoon, Binnaz Yalcin, Pankaj B. Agrawal
Am J Hum Genet. 2020 Dec 3; 107(6): 1170–1177. Published online 2020 Nov 23. doi: 10.1016/j.ajhg.2020.11.001
PMCID:
PMC7820620
11.
Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Jieqiong Tan, Senwei Tan, Xiangbin Jia, Wendy K. Chung, Rebecca Hernan, Fowzan S. Alkuraya, Ahood Alsulaiman, Mohammad A. Al-Muhaizea, Gaetan Lesca, Linda Pons, Audrey Labalme, Linda Laux, Emily Bryant, Natasha J. Brown, Elena Savva, Samantha Ayres, Dhamidhu Eratne, Hilde Peeters, Frédéric Bilan, Lucile Letienne-Cejudo, Brigitte Gilbert-Dussardier, Inge-Lore Ruiz-Arana, Jenny Meylan Merlini, Alexia Boizot, Lucia Bartoloni, Federico Santoni, Danielle Karlowicz, Marie McDonald, Huidan Wu, Zhengmao Hu, Guodong Chen, Jianjun Ou, Charlotte Brasch-Andersen, Christina R. Fagerberg, Inken Dreyer, Anne chun-hui Tsai, Valerie Slegesky, Rose B. McGee, Brina Daniels, Elizabeth A. Sellars, Lori A. Carpenter, Bradley Schaefer, Maria J. Guillen Sacoto, Amber Begtrup, Rhonda E. Schnur, Sumit Punj, Ingrid M. Wentzensen, Lindsay Rhodes, Qian Pan, Raphael A. Bernier, Chao Chen, Evan E. Eichler, Kun Xia
Am J Hum Genet. 2020 Nov 5; 107(5): 963–976. Published online 2020 Nov 5. doi: 10.1016/j.ajhg.2020.10.002
PMCID:
PMC7674997
12.
Chun Wang, Guiyuan He, Yusong Ge, Runjie Li, Zhenguo Li, Yongzhong Lin
Mol Genet Genomic Med. 2020 Jun; 8(6): e1235. Published online 2020 Apr 7. doi: 10.1002/mgg3.1235
PMCID:
PMC7284041
13.
Suhail Khoja, Matthew Nitzahn, Brian Truong, Jenna Lambert, Brandon Willis, Gabriella Allegri, Véronique Rüfenacht, Johannes Häberle, Gerald S. Lipshutz
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2019 Nov; 42(6): 1044–1053. Published online 2019 Mar 5. doi: 10.1002/jimd.12048
PMCID:
PMC6728231
14.
Sanaa Kamal, Sara Abdelhakam, Dalia Ghoraba, Yasmin Massoud, Kareem Abdel Aziz, Huda Hassan, Tamer Hafez, Ahmed Abdel Sallam
BMC Gastroenterol. 2019; 19: 22. Published online 2019 Feb 4. doi: 10.1186/s12876-019-0931-2
PMCID:
PMC6360704
15.
Yingjun Zhang, Mengyun Hu, Qian Liu, Lijing Sun, Xiyong Chen, Liangjie Lv, Yuping Liu, Xu Jia, Hui Li
BMC Plant Biol. 2018; 18: 319. Published online 2018 Dec 3. doi: 10.1186/s12870-018-1530-z
PMCID:
PMC6276161
16.
Daniela Ponce-Balbuena, Guadalupe Guerrero-Serna, Carmen R. Valdivia, Ricardo Caballero, F. Javier Diez-Guerra, Eric N. Jiménez-Vázquez, Rafael J. Ramírez, André Monteiro da Rocha, Todd J. Herron, Katherine F. Campbell, B. Cicero Willis, Francisco J. Alvarado, Manuel Zarzoso, Kuljeet Kaur, Marta Pérez-Hernández, Marcos Matamoros, Héctor H. Valdivia, Eva Delpón, José Jalife
Circ Res.
Published in final edited form as: Circ Res. 2018 May 25; 122(11): 1501–1516. Published online 2018 Mar 7. doi: 10.1161/CIRCRESAHA.117.311872
PMCID:
PMC5970051
17.
Boglarka Bansagi, Vietxuan Phan, Mark R. Baker, Julia O'Sullivan, Matthew J. Jennings, Roger G. Whittaker, Juliane S. Müller, Jennifer Duff, Helen Griffin, James A.L. Miller, Grainne S. Gorman, Hanns Lochmüller, Patrick F. Chinnery, Andreas Roos, Laura E. Swan, Rita Horvath
Neurology. 2018 May 22; 90(21): e1842–e1848. doi: 10.1212/WNL.0000000000005566
PMCID:
PMC5962916
18.
Ana Pop, Monique Williams, Eduard A. Struys, Magnus Monné, Erwin E. W. Jansen, Anna De Grassi, Warsha A. Kanhai, Pasquale Scarcia, Matilde R. Fernandez Ojeda, Vito Porcelli, Silvy J. M. van Dooren, Pascal Lennertz, Benjamin Nota, Jose E. Abdenur, David Coman, Anibh Martin Das, Areeg El-Gharbawy, Jean-Marc Nuoffer, Branka Polic, René Santer, Natalie Weinhold, Britton Zuccarelli, Ferdinando Palmieri, Luigi Palmieri, Gajja S. Salomons
J Inherit Metab Dis. 2018; 41(2): 169–180. Published online 2017 Dec 13. doi: 10.1007/s10545-017-0106-7
PMCID:
PMC5830478
19.
Brynjar O. Jensson, Sif Hansdottir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. Kristjansson, Asmundur Oddsson, Stefania Benonisdottir, Hakon Jonsson, Agnar Helgason, Jona Saemundsdottir, Olafur T. Magnusson, Gisli Masson, Gudmundur A. Thorisson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Ingileif Jonsdottir, Vigdis Petursdottir, Jon R. Kristinsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Gunnar Gudmundsson, Kari Stefansson
BMC Med Genet. 2017; 18: 129. Published online 2017 Nov 14. doi: 10.1186/s12881-017-0490-8
PMCID:
PMC5686906
20.
Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo López Laso, Rocio Sanchez-Carpintero, Jesus Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark Handley, Elisabeth Freyer, Allyson Ross, DDD Study, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David R. FitzPatrick
Am J Hum Genet. 2016 May 5; 98(5): 981–992. Published online 2016 Apr 21. doi: 10.1016/j.ajhg.2016.03.018
PMCID:
PMC4863663

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center