U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 5

1.
NEXMIF基因突变导致智力障碍合并癫痫2例并文献复习
陈 施梦, 邓 小鹿, 熊 娟, 陈 柏谕, 何 芳, 杨 丽芬, 羊 蠡, 彭 镜, 尹 飞
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Feb 28; 47(2): 265–270. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210070
PMCID:
PMC10930526
AbstractArticlePDF–762K
2.
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
Natalie C. Lippa, Subit Barua, Vimla Aggarwal, Elaine Pereira, Jennifer M. Bain
BMC Neurol. 2021; 21: 358. Published online 2021 Sep 16. doi: 10.1186/s12883-021-02380-9
PMCID:
PMC8447699
AbstractArticlePDF–607K
3.
Phelan McDermid Syndrome: Multiple Sclerosis as a Rare but Treatable Cause for Regression—A Case Report
Sarah Jesse, Jan Philipp Delling, Michael Schön, Tobias M Boeckers, Albert Ludolph, Makbule Senel
Int J Mol Sci. 2021 Mar; 22(5): 2311. Published online 2021 Feb 25. doi: 10.3390/ijms22052311
PMCID:
PMC7956287
AbstractArticlePDF–5.9M
4.
Pulmonary Hypertension in Patients with 9q34.3 microdeletion-associated Kleefstra Syndrome
Volkan Okur, Shannon Nees, Wendy K. Chung, Usha Krishnan
Am J Med Genet A. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: Am J Med Genet A. 2018 Aug; 176(8): 1773–1777. Published online 2018 Jul 31. doi: 10.1002/ajmg.a.38852
PMCID:
PMC6107394
AbstractArticlePDF–59K
5.
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
Agatino Battaglia
Orphanet J Rare Dis. 2008; 3: 30. Published online 2008 Nov 19. doi: 10.1186/1750-1172-3-30
PMCID:
PMC2613132
AbstractArticlePDF–509K

Display Settings:

Format
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center