共 42 条
[1]
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
[J].
Abecasis, GR
;
Cherny, SS
;
Cookson, WO
;
Cardon, LR
.
NATURE GENETICS,
2002, 30 (01)
:97-101

Abecasis, GR
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Cherny, SS
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Cookson, WO
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Cardon, LR
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
[2]
A method and server for predicting damaging missense mutations
[J].
Adzhubei, Ivan A.
;
Schmidt, Steffen
;
Peshkin, Leonid
;
Ramensky, Vasily E.
;
Gerasimova, Anna
;
Bork, Peer
;
Kondrashov, Alexey S.
;
Sunyaev, Shamil R.
.
NATURE METHODS,
2010, 7 (04)
:248-249

Adzhubei, Ivan A.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Schmidt, Steffen
论文数: 0 引用数: 0
h-index: 0
机构:
Max Planck Inst Dev Biol, Dept Biochem, Tubingen, Germany Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Peshkin, Leonid
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Dept Syst Biol, Boston, MA USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Ramensky, Vasily E.
论文数: 0 引用数: 0
h-index: 0
机构:
Russian Acad Sci, VA Engelhardt Mol Biol Inst, Moscow, Russia Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Gerasimova, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Inst Life Sci, Ann Arbor, MI USA
Univ Michigan, Dept Ecol & Evolutionary Biol, Ann Arbor, MI USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Bork, Peer
论文数: 0 引用数: 0
h-index: 0
机构:
European Mol Biol Lab, Heidelberg, Germany Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Kondrashov, Alexey S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Inst Life Sci, Ann Arbor, MI USA
Univ Michigan, Dept Ecol & Evolutionary Biol, Ann Arbor, MI USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA

Sunyaev, Shamil R.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA
[3]
Retinal very long-chain PUFAs: new insights from studies on ELOVL4 protein
[J].
Agbaga, Martin-Paul
;
Mandal, Md Nawajes A.
;
Anderson, Robert E.
.
JOURNAL OF LIPID RESEARCH,
2010, 51 (07)
:1624-1642

Agbaga, Martin-Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oklahoma, Hlth Sci Ctr, Dept Cell Biol, Oklahoma City, OK 73104 USA
Univ Oklahoma, Hlth Sci Ctr, Dept Ophthalmol, Oklahoma City, OK 73104 USA
Dean A McGee Eye Inst, Oklahoma City, OK 73104 USA Univ Oklahoma, Hlth Sci Ctr, Dept Cell Biol, Oklahoma City, OK 73104 USA

Mandal, Md Nawajes A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oklahoma, Hlth Sci Ctr, Dept Ophthalmol, Oklahoma City, OK 73104 USA
Dean A McGee Eye Inst, Oklahoma City, OK 73104 USA Univ Oklahoma, Hlth Sci Ctr, Dept Cell Biol, Oklahoma City, OK 73104 USA

Anderson, Robert E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oklahoma, Hlth Sci Ctr, Dept Cell Biol, Oklahoma City, OK 73104 USA
Univ Oklahoma, Hlth Sci Ctr, Dept Ophthalmol, Oklahoma City, OK 73104 USA
Dean A McGee Eye Inst, Oklahoma City, OK 73104 USA Univ Oklahoma, Hlth Sci Ctr, Dept Cell Biol, Oklahoma City, OK 73104 USA
[4]
Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
[J].
Aldahmesh, Mohammed A.
;
Mohamed, Jawahir Y.
;
Alkuraya, Hisham S.
;
Verma, Ishwar C.
;
Puri, Ratna D.
;
Alaiya, Ayodele A.
;
Rizzo, William B.
;
Alkuraya, Fowzan S.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2011, 89 (06)
:745-750

Aldahmesh, Mohammed A.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Mohamed, Jawahir Y.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Alkuraya, Hisham S.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
King Abdul Aziz Med City, King Fahad Natl Guard Hosp, Dept Surg, Div Ophthalmol, Riyadh 11426, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Verma, Ishwar C.
论文数: 0 引用数: 0
h-index: 0
机构:
Sir Ganga Ram Hosp, Ctr Med Genet, New Delhi 110060, India King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Puri, Ratna D.
论文数: 0 引用数: 0
h-index: 0
机构:
Sir Ganga Ram Hosp, Ctr Med Genet, New Delhi 110060, India King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Alaiya, Ayodele A.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Stem Cell Therapy Program, Prote Unit, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Rizzo, William B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nebraska Med Ctr, Munroe Meyer Inst Genet & Rehabil, Dept Pediat, Omaha, NE 68198 USA King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Alkuraya, Fowzan S.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
King Saud Univ, King Khalid Univ Hosp, Dept Pediat, Riyadh 11411, Saudi Arabia
King Saud Univ, Coll Med, Riyadh 11411, Saudi Arabia
Alfaisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh 11533, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
[5]
Expanding the Clinical Phenotype Associated With ELOVL4 Mutation Study of a Large French-Canadian Family With Autosomal Dominant Spinocerebellar Ataxia and Erythrokeratodermia
[J].
Cadieux-Dion, Maxime
;
Turcotte-Gauthier, Maude
;
Noreau, Anne
;
Martin, Caroline
;
Meloche, Caroline
;
Gravel, Micheline
;
Drouin, Christian Allen
;
Rouleau, Guy A.
;
Dang Khoa Nguyen
;
Cossette, Patrick
.
JAMA NEUROLOGY,
2014, 71 (04)
:470-475

Cadieux-Dion, Maxime
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada

Turcotte-Gauthier, Maude
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada

Noreau, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada

Martin, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada

Meloche, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada

Gravel, Micheline
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada

Drouin, Christian Allen
论文数: 0 引用数: 0
h-index: 0
机构:
Grand Portage Hosp, Dept Dermatol, Quebec City, PQ, Canada Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada

Rouleau, Guy A.
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada

Dang Khoa Nguyen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada

Cossette, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada Univ Montreal, Notre Dame Hosp, Ctr Hosp Univ Montreal, Ctr Rech, Montreal, PQ H3C 3J7, Canada
[6]
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)
[J].
Caramins, Melody
;
Colebatch, James G.
;
Bainbridge, Matthew N.
;
Scherer, Steven S.
;
Abrams, Charles K.
;
Hackett, Emma L.
;
Freidin, Mona M.
;
Jhangiani, Shalini N.
;
Wang, Min
;
Wu, Yuanqing
;
Muzny, Donna M.
;
Lindeman, Robert
;
Gibbs, Richard A.
.
HUMAN MOLECULAR GENETICS,
2013, 22 (21)
:4329-4338

Caramins, Melody
论文数: 0 引用数: 0
h-index: 0
机构:
South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia
South Eastern Area Lab Serv, Dept Genet, Randwick, NSW 2031, Australia South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Colebatch, James G.
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Wales Hosp, Dept Neurol, Randwick, NSW 2031, Australia
Neurosci Res Australia, Randwick, NSW 2031, Australia South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Bainbridge, Matthew N.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Scherer, Steven S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA 19104 USA South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Abrams, Charles K.
论文数: 0 引用数: 0
h-index: 0
机构:
Suny Downstate Med Ctr, Dept Neurol, Brooklyn, NY 11203 USA
Suny Downstate Med Ctr, Dept Physiol & Pharmacol, Brooklyn, NY 11203 USA South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Hackett, Emma L.
论文数: 0 引用数: 0
h-index: 0
机构:
South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia
South Eastern Area Lab Serv, Dept Genet, Randwick, NSW 2031, Australia South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Freidin, Mona M.
论文数: 0 引用数: 0
h-index: 0
机构:
Suny Downstate Med Ctr, Dept Neurol, Brooklyn, NY 11203 USA South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Jhangiani, Shalini N.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Wang, Min
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Wu, Yuanqing
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Muzny, Donna M.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Lindeman, Robert
论文数: 0 引用数: 0
h-index: 0
机构:
South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia
South Eastern Area Lab Serv, Dept Genet, Randwick, NSW 2031, Australia South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia

Gibbs, Richard A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA South Eastern Area Lab Serv, Dept Haematol, Randwick, NSW 2031, Australia
[7]
Identification of deleterious mutations within three human genomes
[J].
Chun, Sung
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Fay, Justin C.
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GENOME RESEARCH,
2009, 19 (09)
:1553-1561

论文数: 引用数:
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Fay, Justin C.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Computat Biol Program, St Louis, MO 63108 USA
Washington Univ, Dept Genet, St Louis, MO 63108 USA Washington Univ, Computat Biol Program, St Louis, MO 63108 USA
[8]
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
[J].
Delplanque, Jerome
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Devos, David
;
Huin, Vincent
;
Genet, Alexandre
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Sand, Olivier
;
Moreau, Caroline
;
Goizet, Cyril
;
Charles, Perrine
;
Anheim, Mathieu
;
Monin, Marie Lorraine
;
Buee, Luc
;
Destee, Alain
;
Grolez, Guillaume
;
Delmaire, Christine
;
Dujardin, Kathy
;
Dellacherie, Delphine
;
Brice, Alexis
;
Stevanin, Giovanni
;
Strubi-Vuillaume, Isabelle
;
Duerr, Alexandra
;
Sablonniere, Bernard
.
BRAIN,
2014, 137
:2657-2663

Delplanque, Jerome
论文数: 0 引用数: 0
h-index: 0
机构:
CNRS, UMR8199, Inst Biol, F-59000 Lille, France
INSERM, U837, F-59045 Lille, France
Univ Lille Nord France, F-59045 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Devos, David
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Reg & Univ Lille, Dept Neurol, F-59037 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Huin, Vincent
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U837, F-59045 Lille, France
Univ Lille Nord France, F-59045 Lille, France
Ctr Hosp Reg & Univ Lille, Ctr Biol Pathol, Pole Biochim & Biol Mol, F-59037 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Genet, Alexandre
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Reg & Univ Lille, Ctr Biol Pathol, Pole Biochim & Biol Mol, F-59037 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Sand, Olivier
论文数: 0 引用数: 0
h-index: 0
机构:
CNRS, UMR8199, Inst Biol, F-59000 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Moreau, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Reg & Univ Lille, Dept Neurol, F-59037 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Goizet, Cyril
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bordeaux Segalen, EA4576, Lab Malad Rares Genet & Metab MRGM, F-33076 Bordeaux, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Charles, Perrine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, Dept Neurol, F-75651 Paris, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Anheim, Mathieu
论文数: 0 引用数: 0
h-index: 0
机构:
CNRS, Strasbourg UMR7104, IGBMC, INSERM,U964, F-67404 Illkirch Graffenstaden, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Monin, Marie Lorraine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

论文数: 引用数:
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Destee, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Reg & Univ Lille, Dept Neurol, F-59037 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Grolez, Guillaume
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Reg & Univ Lille, Dept Neurol, F-59037 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Delmaire, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Reg & Univ Lille, Dept Neuroradiol, F-59037 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Dujardin, Kathy
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Reg & Univ Lille, Dept Neurol, F-59037 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Dellacherie, Delphine
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Reg & Univ Lille, Dept Neuropediat, F-59037 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Brice, Alexis
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, F-75013 Paris, France
Univ Paris 06, UMR7225, Inst Cerveau & Moelle Epiniere, INSERM,U1127,CNRS, F-75013 Paris, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Stevanin, Giovanni
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, F-75013 Paris, France
Hesam Univ, Ecole Prat Hautes Etud, Lab Neurogenet, F-75013 Paris, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Strubi-Vuillaume, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Reg & Univ Lille, Ctr Biol Pathol, Pole Biochim & Biol Mol, F-59037 Lille, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

Duerr, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, F-75013 Paris, France
Univ Paris 06, UMR7225, Inst Cerveau & Moelle Epiniere, INSERM,U1127,CNRS, F-75013 Paris, France CNRS, UMR8199, Inst Biol, F-59000 Lille, France

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[9]
A molecular caliper mechanism for determining very long-chain fatty acid length
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Denic, Vladimir
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Weissman, Jonathan S.
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CELL,
2007, 130 (04)
:663-677

Denic, Vladimir
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, Dept Cellular & Mol Pharmacol, Howard Hughes Med Inst, San Francisco, CA 94158 USA

Weissman, Jonathan S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Cellular & Mol Pharmacol, Howard Hughes Med Inst, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Cellular & Mol Pharmacol, Howard Hughes Med Inst, San Francisco, CA 94158 USA
[10]
ELOVLS Mutations Cause Spinocerebellar Ataxia 38
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Di Gregorio, Eleonora
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Borroni, Barbara
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Giorgio, Elisa
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Lacerenza, Daniela
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Ferrero, Marta
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Lo Buono, Nicola
;
Ragusa, Neftj
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Mancini, Cecilia
;
Gaussen, Marion
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Calcia, Alessandro
;
Mitro, Nico
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Hoxha, Eriola
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Mura, Isabella
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Coviello, Domenico A.
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Moon, Young-Ah
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Tesson, Christelle
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Vaula, Giovanna
;
Couarch, Philippe
;
Orsi, Laura
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Duregon, Eleonora
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Papotti, Mauro Giulio
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Deleuze, Jean-Francois
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Imbert, Jean
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Costanzi, Chiara
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Padovani, Alessandro
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Giunti, Paola
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Maillet-Vioud, Marcel
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Durr, Alexandra
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Brice, Alexis
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Tempia, Filippo
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Funaro, Ada
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Boccone, Loredana
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Caruso, Donatella
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Stevanin, Giovanni
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Brusco, Alfredo
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AMERICAN JOURNAL OF HUMAN GENETICS,
2014, 95 (02)
:209-217

Di Gregorio, Eleonora
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, Dept Med Sci, I-10126 Turin, Italy
Azienda Osped Univ Citta Salute & Sci, Med Genet Unit, I-10126 Turin, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Borroni, Barbara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Dept Neurol, I-25100 Brescia, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Giorgio, Elisa
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Univ Turin, Dept Med Sci, I-10126 Turin, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Lacerenza, Daniela
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Univ Turin, Dept Med Sci, I-10126 Turin, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Ferrero, Marta
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Univ Turin, Dept Med Sci, I-10126 Turin, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

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Ragusa, Neftj
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Univ Turin, Dept Med Sci, I-10126 Turin, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Mancini, Cecilia
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Univ Turin, Dept Med Sci, I-10126 Turin, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

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Calcia, Alessandro
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Univ Turin, Dept Med Sci, I-10126 Turin, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

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Hoxha, Eriola
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Univ Turin, Neurosci Inst Cavalieri Ottolenghi, I-10043 Orbassano, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Mura, Isabella
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Galliera Hosp, Lab Human Genet, I-16128 Genoa, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Coviello, Domenico A.
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Galliera Hosp, Lab Human Genet, I-16128 Genoa, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Moon, Young-Ah
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机构:
Univ Texas SW Med Ctr Dallas, Dept Mol Genet, Dallas, TX 75390 USA Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Tesson, Christelle
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机构:
Univ Paris 06, INSERM, U1127, F-75013 Paris, France
CNRS, UMR 7225, F-75013 Paris, France
Univ Paris 06, Sorbonne Univ, UMR S 1127, Inst Cerveau & Moelle Epiniere, F-75013 Paris, France
HeSam Univ, Neurogenet Team, Ecole Prat Hautes Etud, F-75013 Paris, France Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Vaula, Giovanna
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机构:
Azienda Osped Univ Citta Salute & Sci, Neurol Div 1, Dept Neurosci & Mental Hlth, I-10126 Turin, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Couarch, Philippe
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机构:
Univ Paris 06, INSERM, U1127, F-75013 Paris, France
CNRS, UMR 7225, F-75013 Paris, France
Univ Paris 06, Sorbonne Univ, UMR S 1127, Inst Cerveau & Moelle Epiniere, F-75013 Paris, France Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Orsi, Laura
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Azienda Osped Univ Citta Salute & Sci, Neurol Div 1, Dept Neurosci & Mental Hlth, I-10126 Turin, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Duregon, Eleonora
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Univ Turin, San Luigi Hosp, Dept Oncol, I-10043 Orbassano, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

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Deleuze, Jean-Francois
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机构:
Ctr Natl Genotypage, F-91057 Evry, France Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Imbert, Jean
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机构:
Aix Marseille Univ, Transcript & Genom Marseille Luminy Platform, Technol Adv Genom & Clin Lab, INSERM,UMR S 1090, F-13009 Marseille, France Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Costanzi, Chiara
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机构:
Univ Brescia, Dept Neurol, I-25100 Brescia, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Padovani, Alessandro
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Univ Brescia, Dept Neurol, I-25100 Brescia, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Giunti, Paola
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机构:
UCL, Dept Mol Neurosci, Inst Neurol, London WC1 N3BG, England Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Maillet-Vioud, Marcel
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机构:
Ctr Hosp Gen Montlucon, F-03113 Montlucon, France Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Durr, Alexandra
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h-index: 0
机构:
Univ Paris 06, INSERM, U1127, F-75013 Paris, France
CNRS, UMR 7225, F-75013 Paris, France
Univ Paris 06, Sorbonne Univ, UMR S 1127, Inst Cerveau & Moelle Epiniere, F-75013 Paris, France
Hop La Pitie Salpetriere, AP HP, F-75013 Paris, France Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Brice, Alexis
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机构:
Univ Paris 06, INSERM, U1127, F-75013 Paris, France
CNRS, UMR 7225, F-75013 Paris, France
Univ Paris 06, Sorbonne Univ, UMR S 1127, Inst Cerveau & Moelle Epiniere, F-75013 Paris, France
Hop La Pitie Salpetriere, AP HP, F-75013 Paris, France Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Tempia, Filippo
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Univ Turin, Neurosci Inst Cavalieri Ottolenghi, I-10043 Orbassano, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Funaro, Ada
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Univ Turin, Dept Med Sci, I-10126 Turin, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Boccone, Loredana
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机构:
Osped Reg Microcitemie, Azienda Unita Sanit Locale 8, I-09121 Cagliari, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Caruso, Donatella
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机构:
Univ Turin, Neurosci Inst Cavalieri Ottolenghi, I-10043 Orbassano, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Stevanin, Giovanni
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机构:
Univ Paris 06, INSERM, U1127, F-75013 Paris, France
CNRS, UMR 7225, F-75013 Paris, France
Univ Paris 06, Sorbonne Univ, UMR S 1127, Inst Cerveau & Moelle Epiniere, F-75013 Paris, France
HeSam Univ, Neurogenet Team, Ecole Prat Hautes Etud, F-75013 Paris, France Univ Turin, Dept Med Sci, I-10126 Turin, Italy

Brusco, Alfredo
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机构:
Univ Turin, Dept Med Sci, I-10126 Turin, Italy
Azienda Osped Univ Citta Salute & Sci, Med Genet Unit, I-10126 Turin, Italy Univ Turin, Dept Med Sci, I-10126 Turin, Italy