共 3 条
[1]
Bahi-Buisson N, 2016, GENEREVIEWS, P1993
[2]
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
[J].
Bahi-Buisson, Nadia
;
Poirier, Karine
;
Fourniol, Franck
;
Saillour, Yoann
;
Valence, Stephanie
;
Lebrun, Nicolas
;
Hully, Marie
;
Bianco, Catherine Fallet
;
Boddaert, Nathalie
;
Elie, Caroline
;
Lascelles, Karine
;
Souville, Isabelle
;
Beldjord, Cherif
;
Chelly, Jamel
.
BRAIN,
2014, 137
:1676-1700

Bahi-Buisson, Nadia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France
INSERM, U1016, Paris, France
Univ Paris 05, Sorbonne Paris Cite, Inst Imagine, Paris, France
INSERM, UMR Embryol & Genet Congenital Malformat 1163, Paris, France
Hop Necker Enfants Malad, AP HP, Serv Neurol Pediat, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Poirier, Karine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France
INSERM, U1016, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Fourniol, Franck
论文数: 0 引用数: 0
h-index: 0
机构:
CRUK London Res Inst, London, England Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Saillour, Yoann
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France
INSERM, U1016, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Valence, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France
INSERM, U1016, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Lebrun, Nicolas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France
INSERM, U1016, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Hully, Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Serv Neurol Pediat, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Bianco, Catherine Fallet
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, CHU St Justine, Montreal, PQ, Canada Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Boddaert, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Serv Radiol Pediat, Paris, France
CEA, Serv Hosp Frederic Joliot, INSERM, U797, F-91406 Orsay, France Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Elie, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, BioInformat Dept, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Lascelles, Karine
论文数: 0 引用数: 0
h-index: 0
机构:
St Thomas Hosp, Evelina Childrens Hosp, London, England Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Souville, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Cochin, Pavillon Cassini AP HP, Serv Biol Mol & Genet, F-75674 Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Beldjord, Cherif
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Cochin, Pavillon Cassini AP HP, Serv Biol Mol & Genet, F-75674 Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France

Chelly, Jamel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France
INSERM, U1016, Paris, France Univ Paris 05, Inst Cochin, CNRS, UMR 8104, F-75015 Paris, France
[3]
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations
[J].
Dentici, Maria L.
;
Maglione, Vittorio
;
Agolini, Emanuele
;
Catena, Gino
;
Capolino, Rossella
;
Lanari, Valentina
;
Novelli, Antonio
;
Sinibaldi, Lorenzo
;
Vecchio, Davide
;
Gonfiantini, Michaela V.
;
Macchiaiolo, Marina
;
Digilio, Maria C.
;
Dallapiccola, Bruno
;
Bartuli, Andrea
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2020, 182 (08)
:1977-1984

Dentici, Maria L.
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Maglione, Vittorio
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Agolini, Emanuele
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Lab Med Genet, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Catena, Gino
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Dept Ophthalmol, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Capolino, Rossella
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Lanari, Valentina
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Lab Med Genet, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Novelli, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Lab Med Genet, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Sinibaldi, Lorenzo
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Vecchio, Davide
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Gonfiantini, Michaela V.
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Macchiaiolo, Marina
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Digilio, Maria C.
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Dallapiccola, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Genet & Rare Dis Res Div, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy

Bartuli, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy Bambino Gesu Pediat Hosp, IRCCS Rome, Rare Dis & Med Genet Unit, Rome, Italy