共 72 条
[1]
Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa
[J].
Acton, Jennifer H.
;
Greenberg, Jonathan P.
;
Greenstein, Vivienne C.
;
Marsiglia, Marcela
;
Tabacaru, Mirela
;
Smith, R. Theodore
;
Tsang, Stephen H.
.
EXPERIMENTAL EYE RESEARCH,
2013, 113
:41-48

Acton, Jennifer H.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF10 3AX, S Glam, Wales
NYU, Dept Ophthalmol, New York, NY 10016 USA Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA

Greenberg, Jonathan P.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA

Greenstein, Vivienne C.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA
NYU, Dept Ophthalmol, New York, NY 10016 USA Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA

Marsiglia, Marcela
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA
NYU, Dept Ophthalmol, New York, NY 10016 USA
Vitreous Retina Macula Consultants NY, New York, NY USA Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA

Tabacaru, Mirela
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA

Smith, R. Theodore
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Dept Ophthalmol, New York, NY 10016 USA Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA

Tsang, Stephen H.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, New York, NY 10032 USA
[2]
Mutations in MFSD8/CLN7 Are a Frequent Cause of Variant-Late Infantile Neuronal Ceroid Lipofuscinosis
[J].
Aiello, Chiara
;
Terracciano, Alessandra
;
Simonati, Alessandro
;
Discepoli, Giancarlo
;
Cannelli, Natalia
;
Claps, Dianela
;
Crow, Yanick J.
;
Bianchi, Marzia
;
Kitzmuller, Claudia
;
Longo, Daniela
;
Tavoni, Antonietta
;
Franzoni, Emilio
;
Tessa, Alessandra
;
Veneselli, Edwige
;
Boldrini, Renata
;
Filocamo, Mirella
;
Williams, Ruth E.
;
Bertini, Enrico S.
;
Biancheri, Roberta
;
Carrozzo, Rosalba
;
Mole, Sara E.
;
Santorelli, Filippo M.
.
HUMAN MUTATION,
2009, 30 (03)
:E530-E540

Aiello, Chiara
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Bambino Gesu Hosp, Rome, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Terracciano, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Bambino Gesu Hosp, Rome, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Simonati, Alessandro
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Verona, Sch Med, Dept Neurol & Visual Sci Neurol, I-37100 Verona, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Discepoli, Giancarlo
论文数: 0 引用数: 0
h-index: 0
机构:
Az Osped Salesi, Ancona, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Cannelli, Natalia
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Bambino Gesu Hosp, Rome, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Claps, Dianela
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Bambino Gesu Hosp, Rome, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Crow, Yanick J.
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Leeds Inst Mol Med, Leeds, W Yorkshire, England IRCCS Bambino Gesu Hosp, Rome, Italy

Bianchi, Marzia
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Bambino Gesu Hosp, Rome, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Kitzmuller, Claudia
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Mol Cell Biol Lab, MRC, London WC1E 6BT, England IRCCS Bambino Gesu Hosp, Rome, Italy

Longo, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Bambino Gesu Hosp, Rome, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Tavoni, Antonietta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Verona, Sch Med, Dept Neurol & Visual Sci Neurol, I-37100 Verona, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

论文数: 引用数:
h-index:
机构:

Tessa, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Bambino Gesu Hosp, Rome, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Veneselli, Edwige
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS G Gaslini Inst, Child Neuropsichiat & Tissue Bank Serv, Genoa, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Boldrini, Renata
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Bambino Gesu Hosp, Rome, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Filocamo, Mirella
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS G Gaslini Inst, Child Neuropsichiat & Tissue Bank Serv, Genoa, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Williams, Ruth E.
论文数: 0 引用数: 0
h-index: 0
机构:
Evelina Childrens Hosp, Dept Paediat Neurol, London, England IRCCS Bambino Gesu Hosp, Rome, Italy

Bertini, Enrico S.
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Bambino Gesu Hosp, Rome, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Biancheri, Roberta
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS G Gaslini Inst, Child Neuropsichiat & Tissue Bank Serv, Genoa, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Carrozzo, Rosalba
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Bambino Gesu Hosp, Rome, Italy IRCCS Bambino Gesu Hosp, Rome, Italy

Mole, Sara E.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Mol Med Unit, London WC1E 6BT, England
UCL, UCL Inst Child Hlth, London WC1E 6BT, England
UCL, Dept Genet Evolut & Environm, London WC1E 6BT, England IRCCS Bambino Gesu Hosp, Rome, Italy

Santorelli, Filippo M.
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Bambino Gesu Hosp, Rome, Italy IRCCS Bambino Gesu Hosp, Rome, Italy
[3]
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations
[J].
Aleman, Tomas S.
;
Cideciyan, Artur V.
;
Sumaroka, Alexander
;
Schwartz, Sharon B.
;
Roman, Alejandro J.
;
Windsor, Elizabeth A. M.
;
Steinberg, Janet D.
;
Branham, Kari
;
Othman, Mohammad
;
Swaroop, Anand
;
Jacobson, Samuel G.
.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,
2007, 48 (10)
:4759-4765

Aleman, Tomas S.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Cideciyan, Artur V.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Sumaroka, Alexander
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Schwartz, Sharon B.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Roman, Alejandro J.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Windsor, Elizabeth A. M.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Steinberg, Janet D.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Branham, Kari
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Othman, Mohammad
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Swaroop, Anand
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Jacobson, Samuel G.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA
[4]
CERKL Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy
[J].
Aleman, Tomas S.
;
Soumittra, Nagasamy
;
Cideciyan, Artur V.
;
Sumaroka, Alexander M.
;
Ramprasad, Vedam Lakshmi
;
Herrera, Waldo
;
Windsor, Elizabeth A. M.
;
Schwartz, Sharon B.
;
Russell, Robert C.
;
Roman, Alejandro J.
;
Inglehearn, Chris F.
;
Kumaramanickavel, Govindasamy
;
Stone, Edwin M.
;
Fishman, Gerald A.
;
Jacobson, Samuel G.
.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,
2009, 50 (12)
:5944-5954

Aleman, Tomas S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Soumittra, Nagasamy
论文数: 0 引用数: 0
h-index: 0
机构:
SNONGC, Vis Res Fdn, Dept Genet & Mol Biol, Madras, Tamil Nadu, India Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Cideciyan, Artur V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Sumaroka, Alexander M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Ramprasad, Vedam Lakshmi
论文数: 0 引用数: 0
h-index: 0
机构:
SNONGC, Vis Res Fdn, Dept Genet & Mol Biol, Madras, Tamil Nadu, India Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Herrera, Waldo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Windsor, Elizabeth A. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Schwartz, Sharon B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Russell, Robert C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Roman, Alejandro J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Inglehearn, Chris F.
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Kumaramanickavel, Govindasamy
论文数: 0 引用数: 0
h-index: 0
机构:
SNONGC, Vis Res Fdn, Dept Genet & Mol Biol, Madras, Tamil Nadu, India Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Stone, Edwin M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Iowa, Dept Ophthalmol, Carver Coll Med, Iowa City, IA 52242 USA
Univ Iowa, Howard Hughes Med Inst, Iowa City, IA 52242 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Fishman, Gerald A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Illinois, Dept Ophthalmol & Visual Sci, Chicago, IL USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Jacobson, Samuel G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA
[5]
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned
[J].
Almoguera, Berta
;
Li, Jiankang
;
Fernandez-San Jose, Patricia
;
Liu, Yichuan
;
March, Michael
;
Pellegrino, Renata
;
Golhar, Ryan
;
Corton, Marta
;
Blanco-Kelly, Fiona
;
Isabel Lopez-Molina, Maria
;
Garcia-Sandoval, Blanca
;
Guo, Yiran
;
Tian, Lifeng
;
Liu, Xuanzhu
;
Guan, Liping
;
Zhang, Jianguo
;
Keating, Brendan
;
Xu, Xun
;
Hakonarson, Hakon
;
Ayuso, Carmen
.
PLOS ONE,
2015, 10 (07)

Almoguera, Berta
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Li, Jiankang
论文数: 0 引用数: 0
h-index: 0
机构:
BGI Shenzhen, Shenzhen 518083, Peoples R China Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Fernandez-San Jose, Patricia
论文数: 0 引用数: 0
h-index: 0
机构:
IIS Fdn Jimenez Diaz, Dept Genet & Genom, Madrid 28040, Spain
ISCIII, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Liu, Yichuan
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

March, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Pellegrino, Renata
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Golhar, Ryan
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Corton, Marta
论文数: 0 引用数: 0
h-index: 0
机构:
IIS Fdn Jimenez Diaz, Dept Genet & Genom, Madrid 28040, Spain
ISCIII, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Blanco-Kelly, Fiona
论文数: 0 引用数: 0
h-index: 0
机构:
IIS Fdn Jimenez Diaz, Dept Genet & Genom, Madrid 28040, Spain
ISCIII, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Isabel Lopez-Molina, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
ISCIII, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain
Fdn Jimenez Diaz, Dept Ophthalmol, E-28040 Madrid, Spain Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Garcia-Sandoval, Blanca
论文数: 0 引用数: 0
h-index: 0
机构:
ISCIII, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain
Fdn Jimenez Diaz, Dept Ophthalmol, E-28040 Madrid, Spain Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Guo, Yiran
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Tian, Lifeng
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Liu, Xuanzhu
论文数: 0 引用数: 0
h-index: 0
机构:
BGI Shenzhen, Shenzhen 518083, Peoples R China Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Guan, Liping
论文数: 0 引用数: 0
h-index: 0
机构:
BGI Shenzhen, Shenzhen 518083, Peoples R China Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Zhang, Jianguo
论文数: 0 引用数: 0
h-index: 0
机构:
BGI Shenzhen, Shenzhen 518083, Peoples R China Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Keating, Brendan
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Xu, Xun
论文数: 0 引用数: 0
h-index: 0
机构:
BGI Shenzhen, Shenzhen 518083, Peoples R China Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Hakonarson, Hakon
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

Ayuso, Carmen
论文数: 0 引用数: 0
h-index: 0
机构:
IIS Fdn Jimenez Diaz, Dept Genet & Genom, Madrid 28040, Spain
ISCIII, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA
[6]
Exome sequencing as a tool for Mendelian disease gene discovery
[J].
Bamshad, Michael J.
;
Ng, Sarah B.
;
Bigham, Abigail W.
;
Tabor, Holly K.
;
Emond, Mary J.
;
Nickerson, Deborah A.
;
Shendure, Jay
.
NATURE REVIEWS GENETICS,
2011, 12 (11)
:745-755

Bamshad, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Ng, Sarah B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Bigham, Abigail W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Univ Michigan, Dept Anthropol, Ann Arbor, MI 48014 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Tabor, Holly K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Seattle Childrens Res Inst, Treuman Katz Ctr Pediat Bioeth, Seattle, WA 98101 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Emond, Mary J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Biostat, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Nickerson, Deborah A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA

Shendure, Jay
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA
[7]
X-LINKED RETINITIS PIGMENTOSA
[J].
BIRD, AC
.
BRITISH JOURNAL OF OPHTHALMOLOGY,
1975, 59 (04)
:177-199

BIRD, AC
论文数: 0 引用数: 0
h-index: 0
机构:
UNIV LONDON,INST OPHTHALMOL,DEPT CLIN OPHTHALMOL,LONDON,ENGLAND UNIV LONDON,INST OPHTHALMOL,DEPT CLIN OPHTHALMOL,LONDON,ENGLAND
[8]
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
[J].
Birtel, Johannes
;
Eisenberger, Tobias
;
Gliem, Martin
;
Mueller, Philipp L.
;
Herrmann, Philipp
;
Betz, Christian
;
Zahnleiter, Diana
;
Neuhaus, Christine
;
Lenzner, Steffen
;
Holz, Frank G.
;
Mangold, Elisabeth
;
Bolz, Hanno J.
;
Issa, Peter Charbel
.
SCIENTIFIC REPORTS,
2018, 8

Birtel, Johannes
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Dept Ophthalmol, Bonn, Germany
Univ Bonn, Ctr Rare Dis Bonn ZSEB, Bonn, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

Eisenberger, Tobias
论文数: 0 引用数: 0
h-index: 0
机构:
Bioscientia Ctr Human Genet, Ingelheim, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

Gliem, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Dept Ophthalmol, Bonn, Germany
Univ Bonn, Ctr Rare Dis Bonn ZSEB, Bonn, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

Mueller, Philipp L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Dept Ophthalmol, Bonn, Germany
Univ Bonn, Ctr Rare Dis Bonn ZSEB, Bonn, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

Herrmann, Philipp
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Dept Ophthalmol, Bonn, Germany
Univ Bonn, Ctr Rare Dis Bonn ZSEB, Bonn, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

Betz, Christian
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h-index: 0
机构:
Bioscientia Ctr Human Genet, Ingelheim, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

Zahnleiter, Diana
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h-index: 0
机构:
Bioscientia Ctr Human Genet, Ingelheim, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

Neuhaus, Christine
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机构:
Bioscientia Ctr Human Genet, Ingelheim, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

Lenzner, Steffen
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机构:
Bioscientia Ctr Human Genet, Ingelheim, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

Holz, Frank G.
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机构:
Univ Bonn, Dept Ophthalmol, Bonn, Germany
Univ Bonn, Ctr Rare Dis Bonn ZSEB, Bonn, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

Mangold, Elisabeth
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机构:
Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

Bolz, Hanno J.
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机构:
Bioscientia Ctr Human Genet, Ingelheim, Germany
Univ Hosp Cologne, Inst Human Genet, Cologne, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany

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Florijn, RJ
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机构: Royal Netherlands Acad Arts & Sci, Netherlands Ophthalm Res Inst, Dept Clin & Mol Ophthalmogenet, Amsterdam, Netherlands

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de Jong, PTVM
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机构: Royal Netherlands Acad Arts & Sci, Netherlands Ophthalm Res Inst, Dept Clin & Mol Ophthalmogenet, Amsterdam, Netherlands

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Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Sullivan, Lori S.
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Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Koboldt, Daniel C.
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h-index: 0
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Washington Univ, Genome Sequencing Ctr, St Louis, MO USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Ding, Li
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h-index: 0
机构:
Washington Univ, Genome Sequencing Ctr, St Louis, MO USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Fulton, Robert
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h-index: 0
机构:
Washington Univ, Genome Sequencing Ctr, St Louis, MO USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Abbott, Rachel M.
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机构:
Washington Univ, Genome Sequencing Ctr, St Louis, MO USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Sodergren, Erica J.
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h-index: 0
机构:
Washington Univ, Genome Sequencing Ctr, St Louis, MO USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Birch, David G.
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Retina Fdn SW, Dallas, TX USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Wheaton, Dianna H.
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机构:
Retina Fdn SW, Dallas, TX USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Heckenlively, John R.
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h-index: 0
机构:
Univ Michigan, Kellogg Eye Ctr, Ann Arbor, MI 48109 USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Liu, Qin
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h-index: 0
机构:
Univ Penn, Sch Med, FM Kirby Ctr Mol Ophthalmol, Philadelphia, PA 19104 USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Pierce, Eric A.
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h-index: 0
机构:
Univ Penn, Sch Med, FM Kirby Ctr Mol Ophthalmol, Philadelphia, PA 19104 USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Weinstock, George M.
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h-index: 0
机构:
Washington Univ, Genome Sequencing Ctr, St Louis, MO USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA

Daiger, Stephen P.
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h-index: 0
机构:
Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr, Ctr Human Genet, Houston, TX 77030 USA