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12 research outputs found
Detection of the Xmnl RFLP at the human PAH locus by PCR
Author
Eisensmith R.C.
Goltsov A.A.
Woo S.L.C.
Publication venue
Publication date
01/01/1992
Field of study
No full text
Crossref
PubMed Central
Genetic Analysis Carried Out on Blood-Spots of Phenylalanine Hydroxylase-Deficient Newborns Detected by Northeastern Italian Neonatal Screening
Author
DIANZANI I.
DIANZANI I.
+3 more
EISENSMITH R.C.
LILLEVALI H.
ROMEO G.
Publication venue
'Mary Ann Liebert Inc'
Publication date
Field of study
No full text
Crossref
Rapid Mutation Screening of Phenylketonuria by Polymerase Chain Reaction-Linked Restriction Enzyme Assay and Direct Sequence of the Phenylalanine Hydroxylase Gene: Clinical Application in Northern Japan and Northern China
Author
AOKI K.
DWORNICZAK B.
+9 more
DWORNICZAK B.
EIKEN H.G.
EISENSMITH R.C.
GOLTSOV A.A.
GÜTTLER F.
LO W.H.
NAGAO M.
WANG T.
WANG T.
Publication venue
'Mary Ann Liebert Inc'
Publication date
Field of study
No full text
Crossref
Development of a stochastic spore germination model
Author
B. Payandeh
C.T. Wit de
+17 more
D.J. Finney
G.E.P. Box
G.W. Keitt
H.G. Fransz
J. C. Zadoks
J.C. Zadoks
J.G.M. Janssen
J.H.M. Thornley
P.E. Waggoner
P.E. Waggoner
P.E. Waggoner
R. Rabbinge
R. Rabbinge
R. Rabbinge
R.C. Pearson
S. P. Eisensmith
S.P. Eisensmith
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
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
Author
A Pijackova
Byck S.
+43 more
Dianzani I.
Dworniczak B.
Dworniczak B.
Dworniczak B.
Eiken H.G.
Eisensmith R.C.
Eisensmith R.C.
Eisensmith R.C.
Goltsov A.A.
Goltsov A.A.
Guldberg P.
Guldberg P.
Guldberg P.
Guldberg P.
Guttler F.
Hoang L.
Hultman T.
Kalaydjieva L.
Kozak L.
Kozak L.
Kuzmin A.I.
L Kozak
Leandro P.
Lichter-Konecki U.
Lidsky A.S.
M Blazkova
Morral N.
Okano Y.
Ozguc M.
Ramus S.J.
Romano V.
S Ruzickova
S St'astna
Scriver C.R.
Traeger-Synodinos J.
Tyfield L.A.
V Kuhrova
Wallace D.C.
Wang T.
Wang Y.
Wedemeyer N.
Zschocke J.
Zygulska M.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Analysis of phenylalanine hydroxylase gene mutations in phenylketonuria patients from Kemerovo oblast and the Sakha Republic
Author
A. A. Bondar
A. E. Tupikin
+34 more
A. Kuzmin
A.G. DiLella
A.L. Pey
A.L. Sukhomyasova
A.M. Knivsberg
B.V. Lebedev
C. Neill
C.A. Neil
E. Svensson
E.V. Balabanovskaya
F. Song
F. Trefz
F.O. Smagulova
H.G. Eiken
I. Rivera
I. V. Morozov
J. Marvit
J. Zschocke
J. Zschocke
J. Zschocke
J. Zschocke
K. Aoki
L.R. Desviat
O. A. Baturina
P. Guldberg
P. Guldberg
P. Guldberg
R.C. Eisensmith
S. G. Zhabin
S.F. Dobrowolski
Sh. Zare-Karizi
Y. Okano
Y. Okano
Y.W. Lee
Publication venue
'Allerton Press'
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
Neurometabolic disorders and dysfunction in autism spectrum disorders
Author
A. Chauhan
B. Manzi
+39 more
B.P. Lanphear
C.Y. Tsao
D. Rossignol
D.C. Wallace
E. Tierney
E.A. Schon
G. Oliveira
G.B. Schaefer
I. Knerr
I.J. Holt
J. Jaeken
J. Lombard
J. Marcos
J.J. Filiano
J.L. Domingo
J.S. Poling
M. Valko
M. Waly
M. Zaffanello
M.C. Reed
N. Bottini
Nassim Zecavati
P. Moretti
P. Weber
P.A. Filipek
P.L. Pearl
R. Deth
R. Pons
R.A. Wevers
R.C. Eisensmith
S.H. Mellon
S.J. James
S.J. James
Sarah J. Spence
T. Lerman-Sagie
T.L. Lowe
V. Ganesan
X. Ming
Y. Yao
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
How to Create and Deploy Infection Models for Plant Pathogens
Author
A. Stensvand
A. Stensvand
+80 more
A. Weiss
A.L. Jones
A.R. Biggs
B.D.L. Fitt
C. McDonald
C. Populer
C.A. Matyac
C.E. Windels
C.L. Campbell
D. Shtienberg
D.A. Shaw
D.M. Gadoury
D.M. Gadoury
D.M. Gadoury
D.M. Gadoury
D.M. Gadoury
D.M. Gadoury
E. Montesinos
E.L. Wang
F. Workneh
F.D. Smith
G.G. Grove
H.S. Aldwinckle
J. Baxter
J. Colhoun
J. Rotem
J.A. Duthie
J.C. Broome
J.C. Sutton
J.E. Bailey
J.G. Hansen
J.L. Shuman
J.M. Davis
J.W. Travis
K. Chokmani
K. Togashi
K.J. Evans
K.S. Kim
L. Huber
L. Madden
L.F. Arauz
L.L. Wilson
L.V. Madden
L.Z. Gao
M. Jedryczka
M. Novak
M.A. Bulger
M.A. Fidanza
M.C. Saunders
M.G. Eversmeyer
M.L. Gleason
N.J. Grunwald
P. Subrahmanyam
P.A. Magarey
P.C. Vincelli
P.E. Waggoner
P.W. Steiner
R. Bugiani
R.A. Krause
R.A. Spotts
R.C. Seem
R.C. Seem
R.D. Berger
R.D. Magarey
R.D. Magarey
R.D. Magarey
R.D. Magarey
R.M. Cu
S.P. Eisensmith
S.P. Falk
T.C. Miller
T.M. Stewart
T.R. Oke
W. Yan
W.E. MacHardy
W.F. Pfender
X. Yin
Y. Cohen
Y. Luo
Y. Xia
Publication venue
'Springer Science and Business Media LLC'
Publication date
01/01/2007
Field of study
No full text
Crossref
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