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Links from MedGen

Items: 13

1.
K D MacDermot, M A Patton, M J Williams, R M Winter
J Med Genet. 1989 Jun; 26(6): 382–385. doi: 10.1136/jmg.26.6.382
PMCID:
PMC1015623
2.
Vivian E.T. Tng, Sally de Zwaan
Clin Case Rep. 2016 Feb; 4(2): 138–142. Published online 2015 Dec 9. doi: 10.1002/ccr3.465
PMCID:
PMC4736513
3.
Vito Pavone, Gianluca Testa, Raffaele Falsaperla, Giuse Sessa
J Orthop Case Rep. 2015 Apr-Jun; 5(2): 32–34. doi: 10.13107/jocr.2250-0685.267
PMCID:
PMC4722584
4.
Xiong Wang, Guijiao Zhang, Yanjun Lu, Xiaoping Luo, Wei Wu
Mol Genet Genomic Med. 2021 Jan; 9(1): e1533. Published online 2020 Dec 15. doi: 10.1002/mgg3.1533
PMCID:
PMC7963408
5.
Liu Jinxiu, Liang Shuimei, Xue Ming, Liu CS. Jonathan, Liu Xiangju, Duan Wenyuan
Medicine (Baltimore) 2020 Apr; 99(16): e19813. Published online 2020 Apr 17. doi: 10.1097/MD.0000000000019813
PMCID:
PMC7440326
6.
Samuel P Strom, Reymundo Lozano, Hane Lee, Naghmeh Dorrani, John Mann, Patricia F O’Lague, Nicole Mans, Joshua L Deignan, Eric Vilain, Stanley F Nelson, Wayne W Grody, Fabiola Quintero-Rivera
BMC Med Genet. 2014; 15: 49. Published online 2014 May 1. doi: 10.1186/1471-2350-15-49
PMCID:
PMC4072606
7.
Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, Wesley J. Woollard, Frances V. Elmslie, Muriel Holder-Espinasse, Melita Irving, Anand K. Saggar, Sarah Smithson, Richard C. Trembath, Charu Deshpande, Michael A. Simpson
Am J Hum Genet. 2012 Aug 10; 91(2): 358–364. doi: 10.1016/j.ajhg.2012.06.008
PMCID:
PMC3415539
8.
Kursat Bora Carman, Emre Kaplan, Cefa Nil Aslan, Sinem Kocagil, Oguz Cilinigr, Coskun Yarar
J Pediatr Genet. 2022 Jun; 11(2): 162–164. Published online 2020 Sep 23. doi: 10.1055/s-0040-1716709
PMCID:
PMC9236732
9.
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid van de Laar, Marco Tartaglia, Bekim Sadikovic, Anne-Sophie Lebre
Int J Mol Sci. 2022 Feb; 23(3): 1815. Published online 2022 Feb 5. doi: 10.3390/ijms23031815
PMCID:
PMC8836705
10.
Sarah E. Sheppard, Ian M. Campbell, Margaret H. Harr, Nina Gold, Dong Li, Hans T. Bjornsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline R. Harris, Catherine Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Jr, Pedro A. Sanchez-Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul-Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie D. Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J. Nowaczyk, Zuhair Rahbeeni, Shay Ben-Shachar, Joseph T. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary-Alice Abbott, Dawn C. Allain, Louise Amlie-Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon-Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores-Daboub, Holly Dubbs, Carolyn A. Felix, Chin-To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui-Yan Kwok, Rebekah K. Jobling, Amy E. Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D. Ross McLeod, Frank D. Mentch, Kelly Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina N. Powell-Hamilton, Zoe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk, Hakon Hakonarson, Elaine H. Zackai, Fabiola Quintero-Rivera
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2021 Jun; 185(6): 1649–1665. Published online 2021 Mar 30. doi: 10.1002/ajmg.a.62124
Correction in:
volume 188 on page 1015
PMCID:
PMC8631250
11.
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Children (Basel) 2021 Nov; 8(11): 952. Published online 2021 Oct 22. doi: 10.3390/children8110952
PMCID:
PMC8620998
12.
Lorna Hirst, Robert Evans
Clin Case Rep. 2021 Mar; 9(3): 1158–1162. Published online 2021 Jan 5. doi: 10.1002/ccr3.3704
PMCID:
PMC7981703
13.
Bianca Russell, Jennifer J Johnston, Leslie G. Biesecker, Nancy Kramer, Angela Pickart, William Rhead, Wen-Hann Tan, Catherine A Brownstein, L Kate Clarkson, Amy Dobson, Avi Z Rosenberg, Samantha A. Schrier Vergano, Benjamin M. Helm, Rachel E Harrison, John M Graham, Jr.
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 0(9): 2122–2131. Published online 2015 Apr 29. doi: 10.1002/ajmg.a.37131
PMCID:
PMC4760347

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