R. Lamont
发表
C. Macrae,
S. Childs,
F. Serluca,
2010,
Mechanisms of Development.
J. Parboosingh,
N. Wright,
R. Lamont,
2021,
International journal of neonatal screening.
A. Innes,
C. Greenberg,
J. Loredo-Osti,
2005,
American journal of medical genetics. Part A.
Matthew S. Lebo,
C. Marshall,
H. Feilotter,
2021,
Journal of Medical Genetics.
L. Lögdberg,
M. Reid,
R. Lamont,
2005,
Transfusion medicine reviews.
F. Alkuraya,
J. Majewski,
F. Bernier,
2015,
American journal of human genetics.
S. Childs,
R. Lamont,
A. Ebert,
2012,
Gene expression patterns : GEP.
J. Lupski,
R. Gibbs,
S. Jhangiani,
2019,
Annals of clinical and translational neurology.
S. Childs,
R. Lamont,
Erica J Lamont,
2009,
Developmental biology.
S. Childs,
R. Lamont,
2006,
Science's STKE.
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes
F. Bernier,
A. Innes,
J. Vance,
2018,
Life Science Alliance.
Colin A. Johnson,
Teunis J. P. van Dam,
J. Shendure,
2015,
Nature Cell Biology.
Changjing Wu,
S. Childs,
Ryan E Sobering,
2016,
Developmental biology.
K. Gripp,
K. Boycott,
T. Hartley,
2014,
American journal of human genetics.
C. Ober,
C. Beaulieu,
R. Sparkes,
2017,
American journal of medical genetics. Part A.
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
K. Schwarz,
T. Giese,
R. Lifton,
2017,
The Journal of clinical investigation.
A. Ekici,
R. Abou Jamra,
F. Bernier,
2014,
American journal of human genetics.
K. Bushby,
M. Zatz,
C. Greenberg,
2005,
Human mutation.
Seonhee Kim,
P. Grant,
D. Harris,
2020,
Human molecular genetics.
E. Zackai,
M. Brudno,
K. Boycott,
2015,
Clinical genetics.
K. Boycott,
K. Kernohan,
T. Hartley,
2020,
Clinical genetics.
D. Schneidman-Duhovny,
K. Gripp,
G. Mancini,
2019,
European Journal of Human Genetics.
A. Fulton,
D. Schneidman-Duhovny,
A. Rajkovic,
2016,
European Journal of Human Genetics.
B. Fernandez,
K. Boycott,
T. Hartley,
2017,
Clinical genetics.
S. D. Fraser,
F. Bernier,
A. Innes,
2020,
bioRxiv.
S. D. Fraser,
P. Gordon,
F. Bernier,
2020
.
C. Ober,
R. Hegele,
O. Suchowersky,
2013,
American journal of human genetics.
C. Ober,
R. Hegele,
O. Suchowersky,
2013
.
John T. Walker,
S. Childs,
R. Lamont,
2015,
Developmental dynamics : an official publication of the American Association of Anatomists.
Nasim Vasli,
Matthew S. Lebo,
Matthew S Lebo,
2017,
Genetics in Medicine.
K. Boycott,
T. Hartley,
J. Parboosingh,
2017,
neurogenetics.
F. Bernier,
A. Innes,
J. Parboosingh,
2016,
American journal of medical genetics. Part A.
K. Boycott,
F. Bernier,
A. Innes,
2018,
American journal of medical genetics. Part A.
C. Bönnemann,
K. Boycott,
F. Bernier,
2017,
Clinical genetics.
F. Bernier,
A. Innes,
J. Parboosingh,
2013,
American journal of medical genetics. Part A.
K. Entian,
P. Cattini,
C. Greenberg,
2009,
American journal of human genetics.
Steven R. Martin,
Steven C. Greenway,
Aneal Khan,
2016,
Front. Cardiovasc. Med..
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
Beryl B. Cummings,
Carol J. Saunders,
C. Saunders,
2019,
Acta Neuropathologica.
C. Ober,
C. Beaulieu,
R. Sparkes,
2017,
American Journal of Medical Genetics. Part A.
F. Baas,
S. Ferdinandusse,
R. Wanders,
2018,
European Journal of Human Genetics.
S. Childs,
R. Lamont,
S. McFarlane,
2007
.
S. Childs,
R. Lamont,
S. McFarlane,
2008,
Developmental dynamics : an official publication of the American Association of Anatomists.
F. Bernier,
A. Innes,
J. Parboosingh,
2018,
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.
Aneal Khan,
X. Wei,
J. Parboosingh,
2017,
Canadian Journal of Cardiology.
S. Childs,
R. Lamont,
S. McFarlane,
2006,
International Journal of Developmental Neuroscience.
E. Zackai,
M. Brudno,
K. Boycott,
2014,
Nature Communications.
F. Bernier,
A. Innes,
J. Parboosingh,
2013,
American journal of medical genetics. Part A.