PMC Articles for MedGen (Select 108280) - PMC - NCBI

Result Filters

Links from MedGen

Items: 6

Select item 105212541.

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D. Overton, Jing Xiao, Ariel Martinez, Max Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah Elsea, Valérie Cormier-Daire, Carlos R. Ferreira

Bone. Author manuscript; available in PMC 2023 Sep 26.

Published in final edited form as: Bone. 2020 Apr; 133: 115219. Published online 2020 Jan 7. doi: 10.1016/j.bone.2019.115219

PMCID:: PMC10521254

Abstract Article PDF–1.0M

Select item 65982512.

Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?

Nadirah Damseh, Jennifer Stimec, Alan O’Brien, Christian Marshall, Ravi Savarirayan, Ali Jawad, Ronald Laxer, Peter Kannu

Orphanet J Rare Dis. 2019; 14: 156. Published online 2019 Jun 27. doi: 10.1186/s13023-019-1138-x

PMCID:: PMC6598251

Abstract Article PDF–1.0M

Select item 48959553.

The Buschke–Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand

Michael Brodbeck, Q. Yousif, P. A. Diener, M. Zweier, J. Gruenert

BMC Res Notes. 2016; 9: 294. Published online 2016 Jun 7. doi: 10.1186/s13104-016-2095-2

PMCID:: PMC4895955

Abstract Article PDF–1.2M

Select item 43016004.

Methodologies for analysis of patterning in the mouse RPE sheet

Jeffrey H. Boatright, Nupur Dalal, Micah A. Chrenek, Christopher Gardner, Alison Ziesel, Yi Jiang, Hans E. Grossniklaus, John M. Nickerson

Mol Vis. 2015; 21: 40–60. Published online 2015 Jan 15.

PMCID:: PMC4301600

Abstract Article PDF–8.5M

Select item 27113345.

Roles of Boundary Conditions in DNA Simulations: Analysis of Ion Distributions with the Finite-Difference Poisson-Boltzmann Method

Xiang Ye, Qin Cai, Wei Yang, Ray Luo

Biophys J. 2009 Jul 22; 97(2): 554–562. doi: 10.1016/j.bpj.2009.05.012

PMCID:: PMC2711334

Abstract Article PDF–693K

Select item 10498686.

New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.

G Camera, G Stella, A Camera

J Med Genet. 1994 May; 31(5): 371–376. doi: 10.1136/jmg.31.5.371

PMCID:: PMC1049868

Summary Page Browse PDF–2.4M

Supplemental Content

Filter your results:

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Articles for MedGen (Select 108280) (6)
PMC
PREDICTED: Homo sapiens free fatty acid receptor 2 (FFAR2), transcript variant X...
PREDICTED: Homo sapiens free fatty acid receptor 2 (FFAR2), transcript variant X3, mRNA
gi|2462564827|ref|XM_054320736.1|

Nucleotide
PREDICTED: Homo sapiens free fatty acid receptor 2 (FFAR2), transcript variant X...
PREDICTED: Homo sapiens free fatty acid receptor 2 (FFAR2), transcript variant X2, mRNA
gi|2217320837|ref|XM_017026711.2|

Nucleotide
free fatty acid receptor 2 [Homo sapiens]
free fatty acid receptor 2 [Homo sapiens]
gi|4885333|ref|NP_005297.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

You are here: NCBI > Literature > PubMed Central (PMC)