A. Afenjar
发表
M. Bauer,
U. Kölsch,
R. Krüger,
2015,
Journal of Clinical Immunology.
Elodie Ey,
Thomas Bourgeron,
Roberto Toro,
2014,
PLoS genetics.
G. Carvill,
H. Mefford,
P. Striano,
2018,
Epilepsia.
Klaus Lehnert,
Holger Lerche,
Annapurna Poduri,
2018,
American journal of human genetics.
N. Boddaert,
A. Afenjar,
C. Richelme,
2008,
Epilepsia.
W. Reardon,
R. Touraine,
A. Afenjar,
2017,
Clinical genetics.
S. Julia,
R. Touraine,
A. Afenjar,
2016,
American journal of medical genetics. Part A.
A. Afenjar,
N. Philip,
A. Verloes,
2010,
Journal of Medical Genetics.
T. Strom,
M. Lek,
B. Lenhard,
2018,
Brain : a journal of neurology.
A. Hoischen,
B. D. de Vries,
L. S. Lucas,
2013,
Orphanet Journal of Rare Diseases.
A. Afenjar,
P. Billuart,
N. Lebrun,
2018,
NeuroMolecular Medicine.
E. Bertini,
C. Garel,
R. Touraine,
2012,
Orphanet Journal of Rare Diseases.
I. Scheffer,
H. Mefford,
A. Munnich,
2019,
Human mutation.
L. Vercueil,
A. Afenjar,
S. Auvin,
2013,
Orphanet Journal of Rare Diseases.
A. Afenjar,
T. Roscioli,
A. Verloes,
2018,
neurogenetics.
R. Delorme,
F. Rivier,
A. Afenjar,
2013,
Molecular genetics and metabolism.
A. Afenjar,
N. Philip,
D. Lacombe,
2018,
Clinical genetics.
A. V. Vulto-van Silfhout,
S. Antonarakis,
B. Asselbergh,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
A. Afenjar,
N. Philip,
J. Thevenon,
2018,
The Journal of clinical endocrinology and metabolism.
P. Gressens,
P. Milani,
A. Afenjar,
2020,
Journal of Medical Genetics.
M. Leboyer,
C. Depienne,
A. Brice,
2013,
European Journal of Human Genetics.
A. V. Vulto-van Silfhout,
R. Pfundt,
M. Reijnders,
2019,
American journal of human genetics.
C. Garel,
C. Depienne,
A. Afenjar,
2016,
Brain : a journal of neurology.
A. Afenjar,
D. Rodriguez,
T. Billette de Villemeur,
2020,
Neurology: Genetics.
B. D. de Vries,
P. Fergelot,
W. Reardon,
2016,
American journal of medical genetics. Part A.
A. Afenjar,
J. Chelly,
B. Girard,
2007,
Pediatric neurology.
A. Afenjar,
N. Philip,
D. Ville,
2015,
Epilepsia.
M. Ruberg,
F. Rivier,
C. Depienne,
2009,
PLoS Genetics.
C. Depienne,
A. Afenjar,
O. Dulac,
2009,
Epilepsy Research.
M. Ruberg,
F. Rivier,
C. Depienne,
2009,
PLoS genetics.
N. Boddaert,
A. Afenjar,
C. Philippe,
2008,
Brain : a journal of neurology.
A. Battaglia,
A. Afenjar,
A. Verloes,
2008,
Epilepsia.
S. Julia,
A. Afenjar,
O. Dulac,
2019,
Epilepsia.
J. Rosenfeld,
F. Alkuraya,
A. Afenjar,
2019,
American journal of human genetics.
Ye Htet Aung,
S. Berkovic,
S. Petrou,
2019,
Annals of clinical and translational neurology.
A. Afenjar,
N. Philip,
V. Cormier-Daire,
2019,
Genetics in Medicine.
A. Afenjar,
N. Philip,
S. Aftimos,
2012,
Human mutation.
A. Afenjar,
L. Cuisset,
Laurence Pacot,
2020,
Gene.
A. Afenjar,
I. Chantret,
S. Vuillaumier‐Barrot,
2011
.
A. Durr,
P. Convers,
M. Koenig,
2015,
Annals of neurology.
A. Hoischen,
L. S. Lucas,
J. Allanson,
2016
.
T. Bourgeron,
R. Delorme,
C. Gillberg,
2012,
Translational Psychiatry.
A. Afenjar,
A. Boland,
J. Deleuze,
2022,
Frontiers in Cell and Developmental Biology.
A. Afenjar,
E. Colin,
V. Cormier-Daire,
2020,
Journal of inherited metabolic disease.
A. Afenjar,
S. Chantot-Bastaraud,
J. Siffroi,
2015,
European journal of medical genetics.
A. Afenjar,
A. Verloes,
C. Yardin,
2022,
American journal of medical genetics. Part A.
A. Munnich,
A. Mégarbané,
A. Afenjar,
2014,
European Journal of Human Genetics.
F. Benfenati,
P. Striano,
L. Mazzola,
2022,
Frontiers in Cell and Developmental Biology.
A. Afenjar,
N. Philip,
E. Colin,
2015,
American journal of medical genetics. Part A.
M. Vidailhet,
A. Afenjar,
J. Saudubray,
2008,
Brain : a journal of neurology.
D. Horn,
C. Garel,
V. Narayanan,
2023,
eLife.
A. Afenjar,
B. Gérard,
A. Piton,
2021,
American journal of medical genetics. Part A.
L. Lagae,
P. Striano,
T. Loddenkemper,
2017,
Brain : a journal of neurology.
L. Lagae,
P. Striano,
T. Loddenkemper,
2017
.
Lisa T. Emrick,
Michael F. Wangler,
J. Rosenfeld,
2019,
Nature Communications.
W. Chung,
A. Munnich,
B. Menten,
2021,
Human Genetics.
J. Rosenfeld,
L. Vissers,
H. Peeters,
2021,
Genome medicine.
R. Pfundt,
E. van Binsbergen,
H. Brunner,
2018,
Nature Communications.
A. Afenjar,
E. Pasmant,
M. Vidaud,
2016,
Journal of Medical Genetics.
L. Richards,
A. Barkovich,
A. Afenjar,
2018,
Neuron.
A. Afenjar,
C. Schaaf,
U. Grasshoff,
2022,
American journal of medical genetics. Part A.
R. Touraine,
A. Afenjar,
A. Toutain,
2019,
Journal of Medical Genetics.
C. Depienne,
A. Afenjar,
D. Cohen,
2018,
Clinical genetics.
C. Depienne,
A. Afenjar,
D. Cohen,
2017
.
A. Afenjar,
A. Verloes,
C. Baumann,
2012,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
A. Reymond,
A. Pagnamenta,
S. Knight,
2020,
bioRxiv.
A. Afenjar,
J. Siffroi,
M. Portnoï,
2020,
European journal of medical genetics.
J. Vermeesch,
A. Afenjar,
M. Hestand,
2016,
Human mutation.
A. Afenjar,
V. Drouin‐Garraud,
T. Frebourg,
2007,
Human mutation.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
npj Genomic Medicine.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
bioRxiv.
M. Bauer,
U. Kölsch,
R. Krüger,
2015,
Journal of Clinical Immunology.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
npj Genomic Medicine.
C. Garel,
A. Afenjar,
A. Toutain,
2018,
Genetics in Medicine.
A. Afenjar,
A. Toutain,
B. Cogné,
2020,
Clinical genetics.
A. Singleton,
M. Vidailhet,
A. Durr,
2018,
JAMA neurology.
A. Munnich,
J. Casanova,
J. Tolmie,
2011,
Nature Genetics.
D. Valle,
D. Campion,
A. Afenjar,
2010,
Human mutation.
D. Campion,
A. Afenjar,
D. Rodriguez,
2007,
Brain and Development.
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
T. van Amelsvoort,
D. Campion,
D. Hannequin,
2007,
Human molecular genetics.
M. B. Pereira,
A. Need,
D. Nickerson,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
M. Shaw,
N. de Leeuw,
J. Gécz,
2020,
American journal of human genetics.
Neil H. Parker,
Dylan M. Marchione,
R. Redon,
2020,
Science Advances.
A. Afenjar,
P. Billuart,
A. Briand-Suleau,
2017,
European Journal of Human Genetics.
J. Graham,
K. Bowling,
A. Afenjar,
2019,
Genetics in Medicine.
S. Julia,
R. Touraine,
A. Afenjar,
2018,
Journal of Medical Genetics.
A. Durr,
A. Brice,
G. Stevanin,
2015,
Neurology.
Matthew H. Brush,
David R. Murdock,
Jean M. Davidson,
2019,
Biological psychiatry.
R. Bodmer,
A. Afenjar,
G. Mollet,
2018,
PLoS genetics.
L. Vissers,
R. Pfundt,
R. Pettinato,
2019,
European Journal of Human Genetics.
C. Depienne,
A. Afenjar,
D. Wieczorek,
2023,
Frontiers in Cell and Developmental Biology.
M. Fornerod,
L. D. de Vries,
A. Afenjar,
2019,
American journal of human genetics.
M. Shaw,
N. de Leeuw,
J. Gécz,
2021,
American journal of human genetics.
A. Afenjar,
P. Jouk,
J. Andrieux,
2017,
American journal of medical genetics. Part A.
M. Reijnders,
D. Segal,
E. Wirrell,
2021,
Neurology. Genetics.
P. van Endert,
M. Polak,
N. Boddaert,
2020,
Journal of inherited metabolic disease.
W. Chung,
S. Leal,
F. Zou,
2021,
Journal of Medical Genetics.
R. Pfundt,
D. Baralle,
I. Thiffault,
2022,
American journal of human genetics.
I. Scheffer,
H. Mefford,
A. Munnich,
2020,
Epilepsia.
S. Julia,
A. Afenjar,
A. Toutain,
2016,
Clinical genetics.
F. Rivier,
C. Garel,
A. Afenjar,
2022,
Journal of Medical Genetics.
A. Munnich,
R. Hennekam,
J. Tolmie,
2014,
European Journal of Human Genetics.
A. Afenjar,
N. Le Meur,
L. Faivre,
2018,
Journal of Medical Genetics.
A. Afenjar,
N. Dorison,
J. Le Gargasson,
2012,
European journal of medical genetics.
C. Betancur,
E. Hatchwell,
D. Campion,
2016,
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
L. Vissers,
I. Krantz,
R. Bodmer,
2020,
American journal of human genetics.
C. Garel,
N. Boddaert,
J. Baptista,
2022,
American journal of human genetics.
Anne de Saint Martin,
A. Afenjar,
P. Berquin,
2021,
Epilepsy & Behavior.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
Nature Communications.
A. Afenjar,
D. Sternberg,
S. Chantot-Bastaraud,
2018,
American journal of medical genetics. Part A.
G. Alcaraz,
A. Afenjar,
L. Aniksztejn,
2015,
Neurobiology of Disease.
I Scala,
Alain Verloes,
M. Elmaleh,
2009,
Neurology.
S. Julia,
A. Afenjar,
A. Toutain,
2021,
European Journal of Human Genetics.
R. Delorme,
F. Rivier,
A. Afenjar,
2012,
Orphanet Journal of Rare Diseases.
Nathalie Boddaert,
Arnold Munnich,
A. Munnich,
2012,
Journal of Inherited Metabolic Disease.
Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene
M. Vidailhet,
A. Durr,
A. Brice,
2009,
Movement Disorders.
M. Fornerod,
A. Afenjar,
R. Person,
2019
.
A. Afenjar,
C. Barnérias,
P. de Lonlay,
2010,
Journal of Medical Genetics.
C. Garel,
A. Afenjar,
A. Toutain,
2018,
Genetics in Medicine.
Ellen F. Macnamara,
J. Constantino,
J. Graham,
2023,
Science advances.
C. Depienne,
A. Afenjar,
A. Jezela-Stanek,
2020,
Epilepsia.
A. Afenjar,
A. Capuano,
B. Dallapiccola,
2021,
Journal of Medical Genetics.
K. Baumstarck,
A. Loundou,
P. Auquier,
2019,
Disability and health journal.
William E. Byrd,
Marni J. Falk,
Mahshid S. Azamian,
2023,
American journal of human genetics.
A. Afenjar,
R. Wanders,
C. Vaurs-Barrière,
2012,
Journal of the Neurological Sciences.
A. Afenjar,
V. Cormier-Daire,
J. Amiel,
2022,
Orphanet Journal of Rare Diseases.
V. Narayanan,
A. Afenjar,
S. Skinner,
2023,
medRxiv.
Z. Tümer,
A. Afenjar,
R. Møller,
2021,
Clinical genetics.
M. Stern,
A. Afenjar,
D. Stoppa-Lyonnet,
2019,
Human mutation.
G. Alcaraz,
A. Afenjar,
L. Aniksztejn,
2015
.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
NPJ Genomic Medicine.
A. Hoischen,
L. S. Lucas,
E. Bongers,
2013
.
A. Afenjar,
N. Philip,
V. Cormier-Daire,
2019,
Genetics in Medicine.
R. Pfundt,
E. van Binsbergen,
H. Brunner,
2018,
Nature Communications.
A. Afenjar,
S. Aradhya,
K. Boycott,
2012,
American journal of medical genetics. Part A.
Anne de Saint Martin,
I. Scheffer,
H. Mefford,
2019
.
A. Afenjar,
A. Verloes,
C. Yardin,
2022,
American Journal of Medical Genetics Part A.
A. Afenjar,
P. Lapunzina,
J. Nevado,
2023,
Genes.
A. Afenjar,
P. Billuart,
N. Lebrun,
2018,
NeuroMolecular Medicine.
I. Scheffer,
H. Mefford,
E. Haan,
2019,
American Journal of Human Genetics.
A. Afenjar,
A. Toutain,
S. Cabrol,
2011
.
A. Munnich,
R. Hennekam,
J. Tolmie,
2014,
European Journal of Human Genetics.
S. Julia,
A. Afenjar,
A. Toutain,
2016,
Clinical genetics.
A. Afenjar,
N. Philip,
D. Ville,
2015,
Epilepsia.
A. Durr,
P. Convers,
M. Koenig,
2015,
Annals of neurology.
Michael F. Wangler,
C. Cytrynbaum,
R. Weksberg,
2023,
American journal of human genetics.
C. Depienne,
O. Guillin,
A. Afenjar,
2023,
European journal of human genetics : EJHG.
V. Narayanan,
A. Afenjar,
T. Chou,
2023,
American journal of human genetics.
Rebecca C. Spillmann,
R. Pfundt,
J. Gécz,
2023,
The Journal of clinical investigation.
A. Afenjar,
N. Philip,
E. Colin,
2015,
American journal of medical genetics. Part A.
A. Afenjar,
A. Bayat,
L. Pasquier,
2023,
American journal of medical genetics. Part A.