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: 13

1.
Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin‐Ho Choi, Minji Kang, Gu‐Hwan Kim, Han‐Wook Yoo, Beom Hee Lee
Mol Genet Genomic Med. 2023 Apr; 11(4): e2127. Published online 2022 Dec 23. doi: 10.1002/mgg3.2127
PMCID:
PMC10094073
2.
Hao-Yi Tan, Bin Wang, Yuan-Zong Song
BMC Pediatr. 2022; 22: 612. Published online 2022 Oct 22. doi: 10.1186/s12887-022-03672-w
PMCID:
PMC9587582
3.
Annalise Jacobs, Catherine Burns, Purva Patel, Kayla Treat, Benjamin M. Helm, Erin Conboy, Francesco Vetrini
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006170. doi: 10.1101/mcs.a006170
PMCID:
PMC8958911
4.
Andrea Masotti, Paolo Uva, Laura Davis-Keppen, Lina Basel-Vanagaite, Lior Cohen, Elisa Pisaneschi, Antonella Celluzzi, Paola Bencivenga, Mingyan Fang, Mingyu Tian, Xun Xu, Marco Cappa, Bruno Dallapiccola
Am J Hum Genet. 2015 Feb 5; 96(2): 295–300. doi: 10.1016/j.ajhg.2014.12.011
PMCID:
PMC4320262
5.
Deepika D’Cunha Burkardt, Jill A. Rosenfeld, Maria Helgeson, Brad Angle, Valerie Banks, Wendy Smith, Karen W. Gripp, Jessica Moline, Rocio Moran, Dmitriy M. Niyazov, Cathy Stevens, Elaine Zackai, Robert Roger Lebel, Douglas Ashley, Nancy Kramer, Ralph S. Lachman, John M. Graham, Jr.
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2011 Jun; 155(6): 1336–1351. Published online 2011 May 5. doi: 10.1002/ajmg.a.34049
PMCID:
PMC3109510
6.
Anne-Claude Tabet, Azzedine Aboura, Marion Gérard, Marion Pilorge, Céline Dupont, Jean-François Gadisseux, Nadège Hervy, Eva Pipiras, Andrée Delahaye, Samia Kanafani, Alain Verloes, Brigitte Benzacken, Catalina Betancur
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2010 Jul; 152A(7): 1781–1788. doi: 10.1002/ajmg.a.33433
PMCID:
PMC2962443
7.
Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid R. Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier-Daire, Hilde van Esch, Jean-Pierre Fryns, Ben C. J. Hamel, Erik A. Sistermans, Bert B. A. de Vries, Hans van Bokhoven
Am J Hum Genet. 2006 Aug; 79(2): 370–377. Published online 2006 Jun 13. doi: 10.1086/505693
PMCID:
PMC1559478
8.
R E Stevenson, B Häne, J F Arena, M May, L Lawrence, H A Lubs, C E Schwartz
J Med Genet. 1997 Jun; 34(6): 465–469. doi: 10.1136/jmg.34.6.465
PMCID:
PMC1050968
9.
Akshata Huddar, Kiran Polavarapu, Veeramani Preethish-Kumar, Mainak Bardhan, Gopikrishnan Unnikrishnan, Saraswati Nashi, Seena Vengalil, Priyanka Priyadarshini, Karthik Kulanthaivelu, Gautham Arunachal, Hanns Lochmüller, Atchayaram Nalini
Children (Basel) 2021 Oct; 8(10): 909. Published online 2021 Oct 13. doi: 10.3390/children8100909
PMCID:
PMC8534696
10.
Wayne W.K. Lam, John J. Millichap, Dinesh C. Soares, Richard Chin, Ailsa McLellan, David R. FitzPatrick, Frances Elmslie, Melissa M. Lees, G. Bradley Schaefer, DDD study, Catherine M. Abbott
Mol Genet Genomic Med. 2016 Jul; 4(4): 465–474. Published online 2016 Apr 3. doi: 10.1002/mgg3.219
PMCID:
PMC4947865
11.
Malgorzata I. Srebniak, Laura J. C. M. van Zutven, Florence Petit, Sonia Bouquillon, Ilse P. J. van Heel, Maarten F. C. M. Knapen, Jerome M. J. Cornette, Andreas Kremer, Diane Van Opstal, Karin E. M. Diderich
Mol Cytogenet. 2016; 9: 43. Published online 2016 Jun 2. doi: 10.1186/s13039-016-0253-9
PMCID:
PMC4891832
12.
J. Allanson, F. Greenberg, A. Smith
J Med Genet. 1999 May; 36(5): 394–397.
PMCID:
PMC1734375
13.
C J Law, A M Fisher, I K Temple
J Med Genet. 1998 Aug; 35(8): 685–689. doi: 10.1136/jmg.35.8.685
PMCID:
PMC1051400

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