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9 research outputs found

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1

Author: Arif M
Beck M
Groebe H
Maroteaux P
Morquio L
Oshima A
Paschke E
Regier DS
Sohn YB
Suzuki Y
Trojak JE
Publication venue: 'Wiley'
Publication date
Field of study

Variation in Expression of Congenital Cardiovascular Malformations within and Among Families

Author: A Czeizel
A Sanchez-Cascos
C Ferencz
C Ferencz
CO Carter
DM Kurnit
DM Kurnit
DS Falconer
EB Clark
EB Clark
International Society of Cardiology
J Grouchy De
JD Rubin
JE Trojak
JE Trojak
JH Edwards
JIE Hoffman
JJ Nora
JJ Nora
JJ Nora
LG Brownwell
M Lamy
ML Kirby
R Praagh Van
R Whittemore
TC Wright
V Rose
VA McKusick
Publication venue: 'Springer Science and Business Media LLC'
Publication date: 01/01/1988
Field of study

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

Author: Fryns JP
Halle MA
leMerrer M
McKusick VA
McKusick VA
Mäkitie O
Pierce GF
Ray HC
RönningO Myllarniemi S
Sensenbrenner JA
Trojak JE
Wiedemann HR
Wilson WG
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Development of a risk model for predicting QTc interval prolongation in patients using QTc-prolonging drugs

Author: AA Mangoni
B Trojak
CG Jardin
D Pickham
DM Roden
H Sijs van der
HC Bazett
JE Tisdale
JE Tisdale
KC Nanji
KH Haugaa
PG Postema
PJ Schwartz
S Beitland
S Nachimuthu
S Sharma
SM Sohaib
SM Straus
SR Benoit
YG Yap
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Morquio-B disease, spondyloepiphyseal dysplasia associated with acid β-galactosidase deficiency. Report of three cases in one family

Author: AI Arbisser
DA Wenger
H Groebe
J Glössl
J Singh
J Spranger
J Spranger
JE Trojak
JJH Fortuin
JS O'Brien
JS O'Brien
JW Spranger
KO Liem
N Ferrante Di
NGGM Abeling
OH Lowry
P Maroteaux
R Humbel
R Matalon
S Okada
T Bitter
VA McKusick
W Holzgreve
WJ Kleijer
WJ Kleijer
WM Teller
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?

Author: A Böyum
A Dorfman
A Staal
AI Arbisser
AL Beaudet
BS Danes
CE Bell Jr
CW Hall
CW Hall
E Buddecke
GH Thomas
H Kresse
I Liebaers
J Gehler
J Troost
JE Trojak
JH Glaser
JP Kampine
JS O'Brien
JS O'Brien
OH Lowry
R Minami
S Okada
S Serra
T Kobayashi
T Kobayashi
U Klein
WG Johnson
WS Sly
Y Tanaka
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Horizontal genome transfer as an asexual path to the formation of new species

Author: A Madlung
A Madlung
A Trojak-Goluch
AD Beddie
AH Paterson
AR Leitch
DA Evans
DW Galbraith
E Küster
G Thyssen
H-S Yu
HS Moon
J Doležel
JE Melaragno
JF Shepard
JJ Doyle
JM Sobel
K Mudge
K Shinozaki
L Comai
M Chester
MJ Hegarty
O Pontes
PS Soltis
R Bock
S Greiner
S Joly
S Stegemann
S Stegemann
SR Mursalimov
T Murashige
W-C Zhang
WC Zhang
Y Sugiyama
Z Xiong
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

Author: Ammann RA
Ashby GH
Bocca G
Bonafe L
Boothby CB
Fauchier C
Fryns JP
Fryns JP
Glass RB
Harris RE
Kawasaki H
le Merrer M
Lischka A
Makitie O
Makitie O
Makitie O
Makitie O
Makitie O
Makitie O
Matesic D
McKusick VA
Mäkitie O
Mäkitie O
Mäkitie O
Polmar SH
Ranki A
Reicherter K
Ridanpaa M
Roberts PA
Sacrez R
Savage MO
Shiasi Arani K
Taskinen M
Thiel CT
Trojak JE
van der Burgt I
Virolainen M
Wilson WG
Publication venue: 'Kowsar Medical Institute'
Publication date
Field of study

A narrative review on non-invasive stimulation of the cerebellum in neurological diseases

Author: A Benussi
A Benussi
A Benussi
A Benussi
A Boehringer
A Cacciola
A Hintzen
A Jamil
A Kishore
A Martino Cinnera
A Naro
A Naro
A Naro
A Picelli
A Picelli
A Picelli
A Quartarone
A Rahman
A Rastogi
A Sadnicka
A Samaei
A Valero-Cabre
AC Bostan
AC Bostan
AC Bostan
AC Bostan
AD Boes
AJ Bastian
AM Hurtado-Puerto
AM Tedesco
B Cengiz
B Fritsch
B Manor
B Trojak
BWV Van Wessel
C França
C Hubsch
C Laidi
CA Wathen
CH Yeo
CI De Zeeuw
D Gatti
D Gatti
D Milardi
DJ Herzfeld
E Calzolari
E Casula
E D’Angelo
E D’Angelo
E D’Angelo
E D’Angelo
E Lesage
ED Louis
ED Louis
ER Buch
F Bodranghien
F Bodranghien
F Carrillo
F Di Biasio
F Di Lorenzo
F Farzan
FF De Vico
FS Bersani
G Cantarero
G Dang
G Gaede
G Grimaldi
G Grimaldi
G Grimaldi
G Grimaldi
G Grimaldi
G Jayaram
G Kelly
G Koch
G Koch
G Koch
G Koch
G Koch
G Koch
G Pilloni
GP Argyropoulos
H Mitoma
H Mitoma
H Mitoma
H Mitoma
H Shimizu
HW Shin
I Santos Ferreira
IS Cooper
J Doyon
J Reis
JD Schmahmann
JD Schmahmann
JD Schmahmann
JE Desmond
JM Galea
JM Galea
JW Krakauer
K Chida
K Kawamura
K Macher
K Monte-Silva
K Spielmann
K van Dun
K van Dun
KL Parker
KL Parker
L Avanzino
L Fernandez
L Fernandez
L John
L Labruna
L Schöls
LA Grecco
LC Shih
LE Ramsey
LF Koziol
LN Miterko
LY Liao
M Bajbouj
M Bikson
M Bologna
M Bologna
M Bortoletto
M Esterman
M Hamada
M Nakamura
M Pereira
M Riklan
M Tramontano
MA Nitsche
MA Nitsche
MC Verhage
MCDS de Moura
MD Soler
MJ Wessel
MJ Wessel
ML Zuchowski
MR DeLong
MS Rioult-Pedotti
N Kang
N Kumari
N Müller
N Oulad Ben Taib
N Seyed Majidi
N Snow
NG Pozzi
O Jensen
P Celnik
P Filip
P Marangolo
P Schwenkreis
PA Pope
PE Turkeltaub
PM Rossini
R Ferrucci
R Ferrucci
R Ferrucci
R Ferrucci
R Ferrucci
R Ferrucci
R Jalali
R Sebastian
R Sebastian
R Sui
R Teasell
RPPWM Maas
RS Calabrò
S Bonnì
S Colnaghi
S Das
S Israely
S McAfee
S Messerotti Benvenuti
S Portaro
S Torriero
S Tremblay
SB Zandvliet
SB Zandvliet
SC Bao
SH Doeltgen
T Askim
T Hulst
T Inamura
T Popa
T Popa
T Popa
T Wu
TL Barretto
TX Chen
V Di Lazzaro
V Jayasekeran
W Ilg
W Ilg
W Kim
W Klomjai
X Guell
Y Ihara
Y Shiga
YC Lin
YZ Huang
Z Ni
Á Foerster
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

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