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19 research outputs found
Review: Therapeutic approaches for lysosomal storage diseases
Author
Altarescu G.
Du L.
+4 more
Hopwood J.
Kaback M.M.
Lau A.A.
Lukina E.
Publication venue
'SAGE Publications'
Publication date
Field of study
No full text
Crossref
Tay-Sachs Disease Carrier Screening: A 21-Year Experience
Author
GARBER A.P.
KABACK M.M.
+4 more
NITOWSKY H.M.
PETERSON G.M.
ROBINSON D.
SAIFER A.
Publication venue
'Mary Ann Liebert Inc'
Publication date
Field of study
No full text
Crossref
Behaviour of cell cultures from human amniotic fluid.
Author
Gerbie A.B.
Hahnemann N.
+10 more
Kaback M.M.
L Hasholt
Littlefield J.W.
Nadler H.L.
Nelson M.M.
Ryan C.A.
Sutherland G.R.
Sutherland G.R.
Uhlendorf W.B.
Wilcoxon F.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
The response of blind and partially sighted teenagers to genetic counselling: first study in the West Midlands
Author
Carter C.O.
Clow C.L.
+7 more
Ferguson G.A.
Jack Insley
Janice A. Porter
Kaback M.M.
Parris K.M.
Sarah Bundey
Siegal S.
Publication venue
'SAGE Publications'
Publication date
Field of study
No full text
Crossref
Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells.
Author
A D Patrick
A E Whitfield
+28 more
Beutler E.
Bowen D.M.
Brett E.M.
Brock D.J.H.
Butterworth J.
Cristofalo V.J.
E Young
Ellis R.B.
Gerbie A.B.
Hall C.W.
Holliday R.
Hors-Cayla M.C.
Kaback M. M.
Kaback M.M.
Kittlick P.D.
Leroy J.G.
Milunsky A.
Niermeijer M.F.
Okada S.
P Willcox
Pan Y.-L.
Radin N.S.
Russell J.D.
Ryan C.A.
Tandt W.R.den
Uhlendorf B.W.
Young E.P.
Young E.P.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy.
Author
A Cameron
C R Greenberg
+16 more
E Hildes
F Booth
Greenberg C.R.
Greenberg C.R.
H K Jacobs
Hollingshead A.B.
J A Evans
Jacobs H.K.
Jacobs H.K.
K Wrogemann
Kaback M.M.
Laberge C.M.
Plauchu H.
S S Seshia
Turner G.
Wertz D.C.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Studies on the origin of human amniotic fluid cells by immunofluorescent staining of keratin filaments.
Author
Burton B.K.
Casadei R.
+17 more
Chettur L.
der Veer E Ven
Fenson A.H.
Franke W.W.
Galjaard H.
Hoehn H.
Hurych J.
Kaback M.M.
Megaw J.M.
Milunsky A.
Priest R.E.
Priest R.E.
Sun T.T.
Sun T.T.
Sun T.T.
Sutherland G.R.
W W Chen
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Control of H+/Lactose Coupling by Ionic Interactions in the Lactose Permease ofEscherichia coli
Author
B. Persson
D.E. Buchel
+41 more
D.L. Foster
D.L. Foster
E.A. Matzke
H.R. Kaback
I.C. West
I.C. West
J. Abramson
J. Calamia
J. Miller
J. Tandori
J.C. Collins
J.I. Lee
J.I. Lee
J.I. Lee
J.L. Johnson
J.L. Johnson
J.L. Johnson
K. Jung
M. Sahin-Toth
M. Sahin-Toth
M.C. Botfield
M.H. Saier Jr.
M.L. Ujwal
M.M. He
M.M. He
M.M. He
M.M. He
N.E.B.
P.D. Boyer
P.J. Franco
P.J. Franco
P.J. Franco
P.J. Franco
R.J. Brooker
R.J. Brooker
R.M. Teather
R.M. Teather
S.C. King
S.S. Pao
T. Pourcher
V.C. Goswitz
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.
Author
B Dawson
Bartsch-Sandhoff M.
+32 more
Borgaonkar D.S.
Chen S.-H.
Chen S.-H.
Cohen M.M.
Cohen M.M.
Dutrillaux B.
Engel W.
Giblett E.R.
Gilgenkrantz S.
Hagemeijer A.
Hopkinson D.A.
Hopkinson D.A.
Kaback M.M.
Kompf J.
Leisti J.T.
Lucas M.
McKusick V.A.
Mikkelsen M.
Morgan J.D.
Neuhauser G.
Priest J.H.
R Bernstein
R Kohl
Race R.R.
Requests for reprints to Dr R. Bernstein Cytogenetics Unit
Sujansky E.
Summitt R.L.
Sumner A.T.
T Jenkins
Therman E.
Verma R.S.
Yunis J.J.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
Author
A H Fensom
Arpaia E.
+19 more
E C Landels
Greenberg D.A.
I H Ellis
Kaback M.M.
Kawasaki E.S.
Landels E.C.
M Bobrow
Myerowitz R.
Myerowitz R.
Myerowitz R.
Navon R.
Neufeld E.F.
Ohno K.
P M Green
Paw B.
Proia R.L.
Saiki R.K.
Sandhoff K.
Triggs-Raine B.L.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
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