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30 research outputs found
Introduction
Author
A Bruwer
AB Marfan
+45 more
AB Marfan
B Lee
C Achard
CJ Epstein
CL Maslen
DW Hollister
E Bronson
E Engelbach
F Boerger
H Jeghers
H Méry
H Weve
HC Dietz
HC Dietz
HH Bentall
HT Bahnson
I Steinberg
J Hutchinson
JF Murdoch
JL Murdoch
JLA Peutz
K Kainulainen
LE Etter
LY Saki
M Godfrey
NAJ Carson
NAJ Carson
P Tsipouras
R Demak
RE Pyeritz
RG Burgio
RK Beals
RN Schimke
RN Schimke
RW Baer
V Salle
VA McKusick
VA McKusick
VA McKusick
VA McKusick
VA McKusick
VA McKusick
VA Walker
WG MacCallum
Y Kesten
Publication venue
'Springer Science and Business Media LLC'
Publication date
01/01/2004
Field of study
No full text
Crossref
Genetics of congenital dwarfism
Author
AB Swanson
B. A. Bharucha
+14 more
BA Bharucha
CI Scott
DL Rimoin
MA Phadke
N. B. Kumta
P Rubin
R. M. Joshi
R. Ramakantan
RS Wadia
RW Davies
SD Frasier
T Fairbank
VA McKusick
VA McKusick
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Anasthesia in Marfan's syndrome
Author
Acharv C. Arachnodactylie
Apert E
+28 more
Baer RW
Beals RK
Brenton DP
Cnoss HE
Cobb JR
Elridge R
Fahey JJ
Gallotti R
Goyette EM
Marfan AB
Mckusick VA
McKusick VA
Mery H
Moses MF
Murdoch JL
Nelson JD
Norcross JR
Phornphutkul C
Pyeritz RE
Radis A
Robins PR
Sinclair RJG
Spangler RD
Steinberg I
Taneja DK.
Walker BA
Wilner HI
Winter RB
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Macrossomia, macrocrania e incoordenação motora da infância síndrome de sotos (Mckusick 11755) estudo de 7 casos e revisão de aspectos clínicos de 198 casos publicados
Author
Anita Wajntal
Ardinger HH
+17 more
Aron J. Diament
Bale HE
Barcinsky MA
Berenice B. de Mendonça
Célia P. Koiffmann
Danilo Moretti-Ferreira
Fitch N
Josefina Mattieli
Levingood AB
McKusick VA
Moretti-Ferreira D
Moretti-Ferreira D
P. H. Saldanha
Salmon MA
Soares LRM
Sotos JF
Wit JM
Publication venue
'FapUNIFESP (SciELO)'
Publication date
Field of study
No full text
Crossref
Fall-Bericht und Untersuchungen zum Kollagen-Stoffwechsel beim Marfan-Syndrom
Author
AB Marfan
BD Smith
+44 more
BF Pontz
CA Wagenwoort
CR Jones
DJ Prockop
DJ Prockop
DJ Prockop
DL Layman
DP Brenton
EJ Miller
EMJ Dwyer
F Boerger
GS Berenson
H Green
H Weve
H Wiedeman
I Kühl
J Erdheim
JA Turner
JE Mayer
JL Murdoch
JL Murdoch
KA Piez
KA Piez
LA Harker
LE Etter
O Laitinen
OR Brown
PC Come
PN Symbas
R Matalon
RA Lipton
RE Priest
RE Pyeritz
RJ Winand
RK Piper
RM Nelson
RP Bolande
RW Baer
T Krieg
T Krieg
VA Björk
VA McKusick
VA McKusick
Z Davies
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.
Author
AB Zinn
C Gellera
+34 more
DR Witt
E Verderio
F Demaugre
F Demaugre
F Minoletti
F Taroni
F Taroni
F Taroni
G Chu
G Finocchiaro
G Hug
G Isaya
J Bremer
J Kerner
J Silver
JD McGarry
JP Bonnefont
KF Woeltje
KF Woeltje
LL Bieber
M Rechsteiner
P Felig
P Tonin
R Singh
RB Layzer
S DiDonato
S DiDonato
S DiDonato
S DiMauro
S DiMauro
S Zierz
T Mongini
TE Creighton
VA McKusick
Publication venue
Publication date
01/01/1993
Field of study
No full text
Crossref
Nottingham Trent Institutional Repository (IRep)
Institutional Repository Universiteit Antwerpen
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
Author
AB Zinn
C Gellera
+34 more
DR Witt
E Verderio
F Demaugre
F Demaugre
F Minoletti
F Taroni
F Taroni
F Taroni
G Chu
G Finocchiaro
G Hug
G Isaya
J Bremer
J Kerner
J Silver
JD McGarry
JP Bonnefont
KF Woeltje
KF Woeltje
LL Bieber
M Rechsteiner
P Felig
P Tonin
R Singh
RB Layzer
S DiDonato
S DiDonato
S DiDonato
S DiMauro
S DiMauro
S Zierz
T Mongini
TE Creighton
VA McKusick
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Use of DNA probes for diagnosis and prevention of inherited disorders
Author
Antonarakis S
Benirschke K
+39 more
Botstein D
Carter CO.
Chakraborty R
Chakravarti A
Chen SH
Conboy JG
Connor JM
Dalgleish R
Delabar JM
Edwards CQ
Eiberg H
Emery AEH
Francke U
Francke U
Haldane JBS.
Hofker MH
Lange K
Lathrop GM
Lindenbaum RH
McKusick VA.
Meredith AL
Mossman J
Mulligan LM
Murphy PD
Natt E
Nukiwa T
Ommen GJB
Pearson P
Purello M
Rappold G
Reed SC.
Ropers HH.
Studencki AB
Wieacker P
Wienker TF
Wieringa B
Willard HF
Yen PH
Zuffardi O
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Clinical Manifestations of the Marfan Syndrome
Author
Anning ST
Beals RK
+38 more
Boucek RJ
Bruno L
Burton JL
Chan K-L
Chu N-S.
Devereux RB
Fleischmajer R
Geva T
Gott VL
Grove D
Haber H.
Hall JR
Halme T
Hirst AE
Judd KP
Loveman AB
Maumenee IH
McKusick VA
Mohr R
Murdoch JL
Nakashima Y.
Parish JG
Perejda AJ
Phornphutkul C
Pinkus H
Pinnell SH
Prockop DJ
Pyeritz RE
Pyeritz RE
Rosnbloom J.
Schimke RN
Sinclair RJG
Smith EW
Steinberg I.
Storck H.
Tsuji T.
Walker BA
Wilner HI
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
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