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39 research outputs found
Rothmund-Thomson syndrome
Author
A Beghini
A Leonard
+106 more
A Rothmund
A Shinya
AR Mehollin-Ray
B Gelaw
B Kerr
BS Kraus
C Moss
C Rizzari
C Spurney
CLM Van Hees
CR Cabral
CZ Bachrati
DG Snels
E Panigiani
EM Vennos
EM Vennos
F Vasseur
FH Sim
G Roversi
G Stinco
Gaia Roversi
H Dollfus
H Kääriäinen
H Rao
HA Siitonen
HA Siitonen
HN Cole
HS Blaustein
J Piquero-Casals
J Yang
J Yin
JE Cleaver
JL Van Hove
JM El-Khoury
JR Potozkin
K Ichikawa
K Matsuno
K Nishijo
KA Knoell
KH Orstavik
KJ Ouyang
KL Ying
L Larizza
L Van Maldergem
L Van Maldergem
L Volpi
LA Pujol
Lidia Larizza
LL Wang
LL Wang
LL Wang
LL Wang
LL Wang
LL Woo
LM Burks
Ludovica Volpi
M Debeljak
M Malanga
M Miozzo
M Petkovic
M Tong
M Varughese
M Wang
MA Broom
MA Macris
MB Mann
MC Haytaç
Mergarbane
MJ Hicks
MN Sangrithi
MS Thomson
NM Lindor
NM Lindor
P Balraj
P Kumar
P Reix
PJ Smith
R Buzzoni
R Kellmayer
RK Mak
S Hanks
S Kaufmann
S Kitao
S Kitao
S Narayan
S Sengupta
S Sharma
SG Grant
SG Kant
SJ Park
SM Howell
SR Werner
T Dietschy
TD Roinioti
U Otsu
VA Currall
VM Der Kaloustian
W Fan
W Jin
WB Taylor
WM Porter
X Xu
Y Hilhorst-Hofstee
Y Hoki
Y Kumata
Y Sznajer
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Get PDF
Crossref
Topical Treatment of Skin Ulcers in Prolidase Deficiency
Author
der Kaloustian VM
Jackson SH
Jackson SH
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Identification of a novel HEXB
Author
Aryan H
Der Kaloustian VM
+5 more
Gravel RA
Kytzia H‐J
Neufeld E
O'Dowd BF
Sandhoff K
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Primary hereditary ichthyoses in the Eastern Province of Saudi Arabia
Author
Baden HP
Baruah MC
+6 more
Der Kaloustian VM
Ebling FJG
Francis JS
Ran RE
Shwayder T
Wells RS
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Costello syndrome: natural history and differential diagnosis of cutis laxa.
Author
Berberich M.S.
Borochowitz Z.
+17 more
Borochowitz Z.
Costello J.M.
Costello J.M.
H E Hughes
Martin R.A.
Martin R.A.
Patton M.A.
Patton M.A.
Philip N.
S J Davies
Sakati N.O.
Say B.
Teebi A.S.
Teebi A.S.
VM Der Kaloustian
VM Der Kaloustian
Zampino G.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Clinico-epidemiological features of congenital nonbullous ichthyosiform erythroderma in the eastern province of Saudi Arabia
Author
Der Kaloustian VM
Ebling FJG
+7 more
Huer M
Liaiho E
Senter TP
Shwayder T
Stoll C
Venencie PY
Wells RS
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
The Costello syndrome: Are nasal papillomata essential?
Author
Hirofumi Ohashi
JM Costello
+8 more
Masako Asoh
RA Martin
Reiko Yoshida
VM Kaloustian Der
Y Izumikawa
Yoshimitsu Fukushima
Yukio Fukuyama
Z Borochowitz
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Costello syndrome.
Author
Borochowitz Z.
Borochowitz Z.
+21 more
Costello J.M.
Costello J.M.
Costello J.M.
Czeizel A.E.
Davies S.J.
Lurie I.W.
M Di Rocco
Martin R.A.
Martin R.A.
Mori M.
N Philip
Patton M.A.
Philip N.
S Sigaudy
Say B.
Teebi A.S.
Teebi A.S.
Umans S.
VM Der Kaloustian
VM Der Kaloustian
Zampino G.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Monozygotic twins discordant for rubinstein-taybi syndrome.
Author
H Nakajima
Johnsson C.F.
+10 more
K Hagiwara
M Tsukahara
Padfield C.J.
Roy F.H.
Schinzel A.A.G.L.
Simpson N.E.
T Kajii
Takeuchi M.
VM Der Kaloustian
Y Fukuda
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
The costello syndrome: Report of a case and review of the literature
Author
AS Teebi
B Say
+10 more
G Zampino
Ikuko Kondo
JM Costello
Kaoru Ashimine
Koichiro Tamanaha
N Philip
RA Martin
VM Kaloustian Der
Y Izumikawa
Z Borochowitz
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
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