J. Soblet
发表
Ethan M. Goldberg,
A. Munnich,
E. Goldberg,
2018,
Genetics in Medicine.
M. Vikkula,
N. Limaye,
J. Soblet,
2013,
Molecular Syndromology.
I. Miinalainen,
M. Vikkula,
R. Sormunen,
2015,
Human molecular genetics.
M. Rooman,
T. Lenaerts,
Y. Borgne,
2019,
Human mutation.
J. Mulliken,
R. Helaers,
M. Vikkula,
2017,
The Journal of investigative dermatology.
M. Vikkula,
C. Godfraind,
L. Eklund,
2013,
Human molecular genetics.
Ethan M. Goldberg,
A. Munnich,
C. Davidson,
2018,
Genetics in Medicine.
C. Vilain,
J. Soblet,
V. Catros,
2020,
European journal of medical genetics.
E. Boscolo,
M. Vikkula,
C. Legrand,
2015
.
S. Coppens,
S. Goldman,
A. Aeby,
2020,
American journal of medical genetics. Part A.
S. Baijot,
G. Smits,
N. Deconinck,
2017,
American journal of medical genetics. Part A.
E. Boscolo,
M. Vikkula,
C. Legrand,
2015,
The Journal of clinical investigation.
M. Cassart,
J. Désir,
C. Vilain,
2021,
Clinical case reports.
K. Hamacher,
C. Mercer,
P. Striano,
2018,
Brain : a journal of neurology.
Ethan M. Goldberg,
A. Munnich,
C. Davidson,
2018,
Genetics in Medicine.
G. Smits,
I. Balikova,
J. Soblet,
2020,
Ophthalmic genetics.
G. Smits,
I. Balikova,
P. Mathers,
2019,
Journal of Clinical Endocrinology and Metabolism.
A. Aeby,
J. König,
C. Vilain,
2022,
Annals of clinical and translational neurology.
M. Emond,
D. Abramowicz,
M. Abramowicz,
2023,
Frontiers in Medicine.
K. Devriendt,
I. Casteels,
G. Smits,
2023,
European journal of medical genetics.
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea
S. Van Dooren,
M. Abramowicz,
M. Bonduelle,
2021,
Molecular genetics & genomic medicine.
T. Lenaerts,
R. Touraine,
M. Abramowicz,
2023,
Human Genomics.
K. Devriendt,
G. Mortier,
H. Van Esch,
2021,
Molecular genetics & genomic medicine.
A. Aeby,
G. Smits,
N. Deconinck,
2017,
Journal of the Neurological Sciences.
M. Tartaglia,
A. Aeby,
T. Jentsch,
2023,
Science advances.