M. Friez
发表
Joshua L. Deignan,
H. Rehm,
J. Berg,
2013,
Genetics in Medicine.
R. Stevenson,
J. Graham,
G. Turner,
2014,
American journal of medical genetics. Part A.
Michael J. Friez,
M. Friez,
C. R. Lovell,
2001,
Applied and Environmental Microbiology.
H. Hakonarson,
R. Stevenson,
C. Schwartz,
2019,
Clinical Epigenetics.
Konrad Grützmann,
Barbara Klink,
Nadja Ehmke,
2018,
Nature Communications.
Klaus Lehnert,
Holger Lerche,
Annapurna Poduri,
2018,
American journal of human genetics.
M. Friez,
C. R. Lovell,
A. Leaphart,
2003,
Applied and Environmental Microbiology.
E. Alexov,
M. Friez,
Yunhui Peng,
2019,
Journal of Human Genetics.
R. Stevenson,
C. Schwartz,
M. Friez,
1999,
Human Genetics.
R. Stevenson,
M. Friez,
R. Simensen,
2009,
Journal of Medical Genetics.
J. Lupski,
S. Cheung,
F. Zhang,
2020,
Human mutation.
C. Schwartz,
M. Friez,
Seokjoong Kim,
2008,
Molecular cell.
M. Friez,
R. Gosden,
S. Silber,
2005,
The New England journal of medicine.
Xiaolan Fang,
S. Skinner,
E. Marsh,
2021,
Molecular Genetics & Genomic Medicine.
B. Tüysüz,
M. Friez,
M. Filocamo,
2019,
Human mutation.
J. Vockley,
O. Abdul-Rahman,
M. Friez,
2010,
Journal of child neurology.
R. Stevenson,
S. Robboy,
J. Chou,
2019,
Cytogenetic and Genome Research.
R. Stevenson,
C. Schwartz,
M. Friez,
2019,
Clinical dysmorphology.
M. Friez,
M. Basehore,
2013
.
J. Opitz,
R. Stevenson,
C. Schwartz,
2008,
American journal of medical genetics. Part A.
M. Lyons,
M. Friez,
Joshua A. Smith,
2016,
American journal of medical genetics. Part A.
Lora J. H. Bean,
H. Zoghbi,
Soma Das,
2021,
Human mutation.
Q. K. Tan,
R. Stevenson,
S. B. Wechsler,
2017,
American journal of medical genetics. Part A.
R. Redon,
J. Rosenfeld,
D. Grozeva,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
S. Skinner,
E. Marsh,
M. Friez,
2021,
Molecular genetics & genomic medicine.
M. Friez,
J. Leroy,
S. Cathey,
2012
.
R. Stevenson,
C. Schwartz,
R. Pagon,
2009,
American journal of medical genetics. Part A.
C. Skinner,
R. Stevenson,
C. Schwartz,
2019,
American journal of medical genetics. Part A.
M. Friez,
R. Wallerstein,
R. Sugalski,
2008,
Clinical Neurology and Neurosurgery.
C. Skinner,
R. Stevenson,
C. Schwartz,
2011,
American journal of medical genetics. Part A.
W. Kaufmann,
M. Friez,
J. Christodoulou,
2006,
Neurology.
M. Shaw,
J. Gécz,
P. Tarpey,
2016,
BMJ Open.
M. Friez,
P. Willems,
Amanda S. Lindy,
2016,
American journal of medical genetics. Part A.
C. Skinner,
R. Stevenson,
C. Schwartz,
2022,
American journal of medical genetics. Part A.
J. Gécz,
S. Robertson,
R. Stevenson,
2022,
Human mutation.
M. Friez,
M. Basehore,
2014,
Current protocols in human genetics.
M. Friez,
N. Marlowe,
Julie R. Jones,
2012,
Genetic testing and molecular biomarkers.
M. Friez,
M. McDonald,
M. May,
2021,
Cold Spring Harbor molecular case studies.
R. Pauli,
M. Friez,
N. Elçioglu,
2019,
Clinical dysmorphology.
M. Friez,
2018,
Genetics in Medicine.
A. Pandey,
A. Madugundu,
M. Friez,
2020,
Molecular genetics and metabolism.
S. Skinner,
R. Louie,
M. Friez,
2022,
American journal of medical genetics. Part A.
J. Vonsattel,
E. Louis,
M. Friez,
2006,
Movement disorders : official journal of the Movement Disorder Society.
M. Lyons,
S. Skinner,
Jordan Broman‐Fulks,
2016,
Clinical case reports.
R. Stevenson,
M. Friez,
Amanda S. Lindy,
2014,
American journal of medical genetics. Part A.
M. Stratton,
P. Futreal,
S. Edkins,
2007,
Journal of Medical Genetics.
R. Stevenson,
C. Schwartz,
M. Lyons,
2008,
Journal of Medical Genetics.
D. Sillence,
R. Stevenson,
M. Friez,
2013,
European Journal of Human Genetics.
R. Stevenson,
M. Friez,
A. Chaubey,
2018,
American journal of medical genetics. Part A.
J. Graham,
M. Friez,
R. C. Rogers,
2006,
American journal of medical genetics. Part A.
C. Skinner,
R. Stevenson,
S. Skinner,
2020,
Journal of autism and developmental disorders.
D. Horn,
A. Rump,
M. Lyons,
2018,
Nature Communications.
C. Haiman,
M. Friez,
O. Evgrafov,
2013,
Translational Psychiatry.
D. Horn,
A. Rump,
M. Lyons,
2018,
bioRxiv.
R. Stevenson,
M. Lyons,
J. Mandel,
2015,
European Journal of Human Genetics.
J. Lupski,
R. Gibbs,
D. Muzny,
2016,
Genetics in Medicine.
M. Burmeister,
M. Friez,
C. Keegan,
2018,
Front. Mol. Neurosci..
R. Finkel,
B. Wong,
A. Pestronk,
2010,
Neuromuscular Disorders.
M. Friez,
E. Weiner,
S. Shalev,
2006,
American journal of medical genetics. Part A.
J. Gécz,
S. Robertson,
R. Stevenson,
2021,
HGG advances.
H. Taylor,
Hyung-Goo Kim,
J. Capra,
2021,
Human Genetics.
M. Friez,
K. Champion,
M. Basehore,
2016
.
P. Marynen,
R. Stevenson,
C. Schwartz,
2008,
Genome research.
R. Stevenson,
C. Schwartz,
S. Skinner,
2021,
Genetics in Medicine.
E. Fung,
M. Lyons,
M. Friez,
2014,
Molecular Cytogenetics.
H. Hakonarson,
R. Stevenson,
C. Schwartz,
2019,
Clinical Epigenetics.
M. Friez,
Catherine A. Ziats,
Wesley G. Patterson,
2020,
Pediatric neurology.
C. Skinner,
R. Stevenson,
S. Skinner,
2020,
Journal of Autism and Developmental Disorders.
C. Schwartz,
M. Friez,
N. Kim,
2012,
Proceedings of the National Academy of Sciences.
M. Stratton,
S. Edkins,
J. Teague,
2008
.
J. Opitz,
R. Stevenson,
C. Schwartz,
2007,
Nature Genetics.
Weimin Sun,
C. Strom,
M. Friez,
2004,
Genetics in Medicine.
R. Stevenson,
C. Schwartz,
P. Giampietro,
2006,
Pediatrics.
M. Shaw,
N. de Leeuw,
J. Gécz,
2020,
American journal of human genetics.
M. Friez,
Joseph A P Wilson,
2008,
European Journal of Human Genetics.
C. Skinner,
R. Stevenson,
C. Schwartz,
2008
.
P. Marynen,
R. Stevenson,
C. Schwartz,
2008
.
H. Willard,
C. Schwartz,
A. Cottle,
2006,
American journal of human genetics.
A. Battaglia,
R. Stevenson,
C. Schwartz,
2009,
Genetics in Medicine.
M. Shaw,
N. de Leeuw,
J. Gécz,
2021,
American journal of human genetics.
Carol J. Saunders,
C. Saunders,
M. Friez,
2010,
Genetic testing and molecular biomarkers.
M. Friez,
M. Golabi,
A. Slavotinek,
2009,
American journal of medical genetics. Part A.
Ayesha Ahmad,
M. Friez,
J. Bedoyan,
2009,
European journal of medical genetics.
E. Alexov,
M. Friez,
Yunhui Peng,
2019,
Journal of Human Genetics.
R. Stevenson,
C. Schwartz,
M. Friez,
2000
.
S. Scherer,
J. Vincent,
M. Friez,
2004,
Nature Genetics.
C. Skinner,
R. Stevenson,
C. Schwartz,
2008,
American journal of medical genetics. Part A.
M. Friez,
2014
.
M. King,
C. Skinner,
R. Stevenson,
2015,
Clinical genetics.
M. Friez,
C. R. Lovell,
Michelle M. Brown,
2003,
FEMS microbiology ecology.
Shawn W. Polson,
M. Friez,
C. R. Lovell,
2002,
FEMS microbiology ecology.
K.,
Lin,
H.,
2020,
European Journal of Human Genetics.
R. Stevenson,
C. Schwartz,
M. Friez,
2008,
Genetics in Medicine.
R. Stevenson,
C. Schwartz,
M. Friez,
2008
.
S. Thibodeau,
D. H. Farkas,
C. Strom,
2005,
Clinical chemistry.
C. Skinner,
M. Friez,
K. Holden,
2005
.
M. Friez,
Vahid Bahrambeigi,
S. Cathey,
2021,
Clinical dysmorphology.
R. Stevenson,
M. Huizing,
Nansheng Chen,
2016,
Molecular genetics and metabolism.
M. Lyons,
M. Friez,
Katherine G. Langley,
2015,
American journal of medical genetics. Part A.
S. Robertson,
P. Tarpey,
C. Skinner,
2022,
European Journal of Human Genetics.
P. Giampietro,
G. Raca,
M. Friez,
2014,
American journal of medical genetics. Part A.
R. Stevenson,
C. Schwartz,
S. Skinner,
2021,
Genetics in Medicine.
J. Trojanowski,
V. Lee,
C. Schwartz,
2010,
Brain : a journal of neurology.
Victoria M Pratt,
Jeanne C Beck,
D. H. Farkas,
2003,
Archives of pathology & laboratory medicine.
H. Warren,
S. Skinner,
R. Louie,
2018,
Clinical case reports.
C. Skinner,
R. Stevenson,
C. Schwartz,
2020,
American journal of medical genetics. Part A.
M. Stratton,
P. Tarpey,
R. Stevenson,
2010,
American journal of medical genetics. Part A.
C. Skinner,
R. Stevenson,
M. Friez,
2000,
Journal of autism and developmental disorders.
B. V. van Bon,
R. Pfundt,
L. Armengol,
2023,
The Journal of clinical investigation.
D. Horn,
A. Rump,
M. Lyons,
2018,
Nature Communications.
M. Friez,
M. Basehore,
2009,
Current protocols in human genetics.
I. Scheffer,
H. Mefford,
E. Haan,
2019,
American Journal of Human Genetics.