CORE
🇺🇦Â
 make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Filters
3 research outputs found
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
Author
Bukowska-Olech Ewelina M.
Jamsheer Aleksander
+7Â more
Latos-Bielenska Anna
Oud M.M.
Posmyk Renata
Schmidts M.
Walczak-Sztulpa Joanna
Wasilewska Anna
Wawrocka Anna
Publication venue
'Springer Science and Business Media LLC'
Publication date
01/01/2020
Field of study
No full text
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene
Author
A Jamsheer
A Pereda
+18Â more
Aleksander Jamsheer
Anna Latos-Bieleńska
Anna Materna-Kiryluk
Anna Sowińska-Seidler
Antoni Pyrkosz
D Johnson
E Klopocki
Ewelina M Olech
G Caronia
GC Schwabe
J Wang
Kazimierz Kozłowski
KP Hertzog
Magdalena Socha
N Brison
PG Maass
S Mundlos
Tomasz Trzeciak
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency
Author
Aleksander Jamsheer
Anna Latos-Bieleńska
+30Â more
Anna Sowińska-Seidler
C Bui
C Huber
D Zhang
EK Mis
Ewelina M Olech
G Desbuquois
IA Adzhubei
J Hästbacka
J Schreml
J Voglmeir
JM Schwarz
K Prydz
Kazimierz Kozłowski
L Faivre
L Faivre
LE Vissers
M Kircher
Marek Karczewski
Marek Niedziela
ML Warman
Monika Obara-Moszyńska
OH Kim
PN Robinson
S Köhler
S Unger
T Furuichi
T Zemojtel
Tomasz Zemojtel
WW Greulich
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref