CORE
🇺🇦
make metadata, not war
Services
Research
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
26 research outputs found
Molecular genetics of PKU in Eastern Europe: A nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene
Author
A. Folling
A.G. DiLella
+25 more
A.G. DiLella
A.G. DiLella
A.G. DiLella
C.R. Scriver
Dezso Schuler
F. Guttler
F.D. Ledley
Gyorgy Fekete
Gyyrgy Berencsi
Istvan Nasz
P.R. Winship
R. Chakraborty
R. Guthrie
Randy C. Eisensmith
S. Lyonnet
S.C.M. Kwok
S.L.C. Woo
S.L.C. Woo
S.L.C. Woo
S.P. Daiger
S.P. Daiger
Savio L. C. Woo
Tao Wang
U. Lichter
Yoshiyuki Okano
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
HNF4α orchestrates a set of 14 genes to down-regulate cell proliferation in kidney cells
Author
DiLella A.G.
Gupta R.K.
+5 more
Kittler R.
Li J.
Lucas B.
Sumitomo M.
Tanaka T.
Publication venue
'Walter de Gruyter GmbH'
Publication date
Field of study
No full text
Crossref
Identification of the haplotype pattern associated with the mutant PKU allele in the Gypsy population of Wales.
Author
A L Meredith
A I.Tourian
+14 more
ancestor
Aulchla-Scholz C.
Chakraborty R.
DiLella A.G.
DiLella A.G.
Guttler F.
L A Tyfield
Lichter-Konecki U.
Lichter-Konecki U.
M J Osborn
P S Harper
Rey F.
Smith I.
Williams E.M.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Rapid and efficient PCR/StyI test for identification of common mutation R408W in phenylketonuria patients.
Author
Baranov V.S.
DiLella A.G.
+8 more
Eiken H.G.
Eiken H.G.
El Schwartz
Kwok S.C.M.
Roberts R.J.
T Ivaschenko
V S Baranov
Woo S.L.C.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Comparison of genotype and intellectual phenotype in untreated PKU patients.
Author
Abadie V.
Apold J.
+36 more
Bachmann B.
Bessman S.P.
D B Pitt
Dianzani I.
DiLella A.G.
DiLella A.G.
DiLella A.G.
DiSilvestre D.
Dworinczak B.
Dworinczak B.
Dworinczak B.
Eiken H.G.
Eisensmith R.C.
Guttler F.
J A Saleeba
Kang E.S.
Ledley F.D.
Lyonnet S.
Marvit J.
Miller S.A.
Okano Y.
Okano Y.
Okano Y.
Okano Y.
Perry T.L.
Pitt D.
Pitt D.
Pitt D.
R G Cotton
Ramus S.J.
S J Ramus
S M Forrest
Scriver C.R.
Svensson E.
Trefz F.K.
Wang T.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England.
Author
Abadie V.
Aulehia-Scholz C.
+26 more
Avigad S.
Chakraborty R.
Cooper D.N.
DiLella A.G.
DiLella A.G.
Dworniczak B.
Guttler F.
Hertzberg M.
J B Holton
John S.W.M.
L A Tyfield
Lichter-Konecki U.
Lichter-Konecki U.
Lichter-Konecki U.
Lidsky A.S.
Lyonnet S.
M J Osborn
Okano Y.
Okano Y.
Rey F.
Sullivan S.E.
Tsai T.F.
Tyfield L.A.
Tyfield L.A.
Tyfield L.A.
Woo S.L.C.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Rapid assessment of haemophilia A carrier state by non-invasive techniques using the polymerase chain reaction.
Author
DiLella A.G.
Embury S.H.
+12 more
F E Preston
Gitschier J.
Handyside A.H.
J Ball
Kogan S.C.
Kunkel L.M.
L J Warnock
Lench N.
Moodie P.
Morgan G.J.
Saiki R.K.
Wion R.L.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
The Use of Non-Radioactive Oligonucleotide Probes to Analyze Enzymatically Amplified DNA for Prenatal Diagnosis and Forensic HLA Typing
Author
Conner B.J.
Connolly B.A.
+14 more
Corey H. Levenson
Dilella A.G.
Goelz S.E.
Henry A. Erlich
Kidel V.J.
Oste C.
Pirastu M.
Randall K. Saiki
Robert M. Watson
Saiki R.K.
Saiki R.K.
Saiki R.K.
Sheldon E.L.
Teodorica L. Bugawan
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.
Author
A de la Chapelle
Abrams E.S.
+24 more
Bickel H.
Bycke S.
DiLella A.G.
Eisensmith R.C.
Eisensmith R.C.
F Guttler
Guldberg P.
Guldberg P.
Guldberg P.
Hastbacka J.
Hastbacka J.
I Sipila
K F Henriksen
Kleiman S.
Lidsky A.S.
Malm E.
Nevanlinna H.R.
Nevanlinna H.R.
Norio R.
P Guldberg
Palo J.
Scriver C.R.
Visakorpi J.K.
Workman P.L.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Evidence for transverse jets in high-mass diffraction
Author
A. Brandt
A.G. Clark
+43 more
Akesson
Akesson
Akesson
Akesson
Alberi
Amaldi
Andersson
Angelis
Ansari
Appel
Arnison
Arnison
Arnison
Bagnaia
Banner
Beer
Bengtsson
Bengtsson
Berger
Bernard
Bozzo
Ceradini
Cool
DiLella
Donnachie
Field
G. Ingelman
Ghez
Goulianos
Ingelman
J. Zsembery
J.B. Cheze
J.G. Zweizig
J.R. Hansen
M. Medinnis
P.E. Schlein
R. Bonino
S. Erhan
Schlein
Sjostrand
Sjostrand
Sjostrand
Zweizig
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
1
2
3