C. Schrander-Stumpel
发表
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
M. Pericak-Vance,
H. Smeets,
S. Züchner,
2008,
Brain : a journal of neurology.
H. Smeets,
A. Paulussen,
A. Haeringen,
2010,
European Journal of Human Genetics.
Paul Coucke,
Marjolijn Renard,
Bart Loeys,
2013,
International journal of cardiology.
J. Al-Aama,
J. Opitz,
W. Reardon,
2012,
American journal of medical genetics. Part A.
E. Smeets,
M. Vreeburg,
M. V. van Steensel,
2008,
International journal of dermatology.
J. Al-Aama,
J. Opitz,
W. Reardon,
2012,
European Journal of Human Genetics.
J. Fryns,
L. Curfs,
S. Cassidy,
2004,
American journal of medical genetics. Part A.
K. Devriendt,
J. Vermeesch,
J. Fryns,
2009,
BMJ Case Reports.
M. Havenith,
E. Linden,
J. Offermans,
1994,
Clinical Dysmorphology.
M. V. van Steensel,
C. Schrander‐Stumpel,
L. Parren,
2008,
Experimental dermatology.
H. Smeets,
T. de Ravel,
K. Devriendt,
2011,
Human mutation.
C. Cytrynbaum,
C. Marshall,
A. Noor,
2015,
Clinical genetics.
P. Theunissen,
J. Engelen,
J. Albrechts,
2003,
American Journal of Medical Genetics. Part A.
J. Fryns,
J. Engelen,
C. Schrander‐Stumpel,
1994,
Clinical genetics.
J. Engelen,
C. Schrander‐Stumpel,
W. H. Loneus,
2005,
American journal of medical genetics. Part A.
K. Devriendt,
J. Vermeesch,
J. Fryns,
2007,
Journal of Medical Genetics.
L. Curfs,
C. Schrander‐Stumpel,
J. Schrander,
2005,
American journal of medical genetics. Part A.
J. Allanson,
C. Schrander-Stumpel,
2004
.
C. Schrander‐Stumpel,
C. Schrander-Stumpel,
Connie Schrander-Stumpel,
1999,
American journal of medical genetics.
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
M. Pericak-Vance,
H. Smeets,
S. Züchner,
2008,
Brain : a journal of neurology.
R. Hennekam,
C. Schrander-Stumpel,
2010,
Clinical dysmorphology.