共 45 条
[11]
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
[J].
Cremers, FPM
;
van De Pol, DJR
;
van Driel, M
;
den Hollander, AI
;
van Haren, FJJ
;
Knoers, NVAM
;
Tijmes, N
;
Bergen, AAB
;
Rohrschneider, K
;
Blankenagel, A
;
Pinckers, AJLG
;
Deutman, AF
;
Hoyng, CB
.
HUMAN MOLECULAR GENETICS,
1998, 7 (03)
:355-362

Cremers, FPM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

van De Pol, DJR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

van Driel, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

den Hollander, AI
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

van Haren, FJJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Knoers, NVAM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Tijmes, N
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Bergen, AAB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Rohrschneider, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Blankenagel, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Pinckers, AJLG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Deutman, AF
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Hoyng, CB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
[12]
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
[J].
Cremers, Frans P. M.
;
Lee, Winston
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Collin, Rob W. J.
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Allikmets, Rando
.
PROGRESS IN RETINAL AND EYE RESEARCH,
2020, 79

Cremers, Frans P. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, POB 9104, NL-6500 HE Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Lee, Winston
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, New York, NY 10032 USA
Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Collin, Rob W. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, POB 9104, NL-6500 HE Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands

Allikmets, Rando
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, New York, NY 10032 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY 10032 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, POB 9101, NL-6500 HB Nijmegen, Netherlands
[13]
Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease
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Cremers, Frans P. M.
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Cornelis, Stephanie S.
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Runhart, Esmee H.
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Astuti, Galuh D. N.
.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,
2018, 59 (13)
:5566-5568

Cremers, Frans P. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

Cornelis, Stephanie S.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

Runhart, Esmee H.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Med Ctr, Nijmegen, Netherlands
Radboud Univ Nijmegen, Dept Ophthalmol, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

Astuti, Galuh D. N.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
Diponegoro Univ, Div Human Genet, Ctr Biomed Res, Fac Med, Semarang, Indonesia Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
[14]
A genetic melting-pot
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Feldman, MW
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Lewontin, RC
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King, MC
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NATURE,
2003, 424 (6947)
:374-374

Feldman, MW
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Biol Sci, Stanford, CA 94305 USA Stanford Univ, Dept Biol Sci, Stanford, CA 94305 USA

Lewontin, RC
论文数: 0 引用数: 0
h-index: 0
机构: Stanford Univ, Dept Biol Sci, Stanford, CA 94305 USA

King, MC
论文数: 0 引用数: 0
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机构: Stanford Univ, Dept Biol Sci, Stanford, CA 94305 USA
[15]
Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease
[J].
Fujinami, Kaoru
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Zernant, Jana
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Chana, Ravinder K.
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Wright, Genevieve A.
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Tsunoda, Kazushige
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Ozawa, Yoko
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Tsubota, Kazuo
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Robson, Anthony G.
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Holder, Graham E.
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Allikmets, Rando
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Michaelides, Michel
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Moore, Anthony T.
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OPHTHALMOLOGY,
2015, 122 (02)
:326-334

Fujinami, Kaoru
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan
Keio Univ, Sch Med, Dept Ophthalmol, Tokyo, Japan
UCL Inst Ophthalmol, London, England
Moorfields Eye Hosp, London, England Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan

Zernant, Jana
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, New York, NY 10027 USA Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan

Chana, Ravinder K.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Ophthalmol, London, England
Moorfields Eye Hosp, London, England Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan

Wright, Genevieve A.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Ophthalmol, London, England
Moorfields Eye Hosp, London, England Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan

Tsunoda, Kazushige
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan

论文数: 引用数:
h-index:
机构:

Tsubota, Kazuo
论文数: 0 引用数: 0
h-index: 0
机构:
Keio Univ, Sch Med, Dept Ophthalmol, Tokyo, Japan Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan

Robson, Anthony G.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Ophthalmol, London, England
Moorfields Eye Hosp, London, England Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan

Holder, Graham E.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Ophthalmol, London, England
Moorfields Eye Hosp, London, England Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan

Allikmets, Rando
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, New York, NY 10027 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan

Michaelides, Michel
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Ophthalmol, London, England
Moorfields Eye Hosp, London, England Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan

Moore, Anthony T.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Ophthalmol, London, England
Moorfields Eye Hosp, London, England Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Lab Visual Physiol, Tokyo, Japan
[16]
Re-Evaluation Casts Doubt on the Pathogenicity of Homozygous USH2A p.C759F
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Gonzalez-del Pozo, Maria
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Bravo-Gil, Nereida
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Mendez-Vidal, Cristina
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Montero-de-Espinosa, Ignacio
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Millan, Jose M.
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Dopazo, Joaquin
;
Borrego, Salud
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Antinolo, Guillermo
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2015, 167 (07)
:1597-1600

Gonzalez-del Pozo, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain

Bravo-Gil, Nereida
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain

Mendez-Vidal, Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain

Montero-de-Espinosa, Ignacio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Virgen Macarena, Dept Ophthalmol, Seville, Spain Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain

Millan, Jose M.
论文数: 0 引用数: 0
h-index: 0
机构:
IIS La Fe, Grp Invest Enfermedades Neurosensoriales, Valencia, Spain
Hosp Univ La Fe, Unidad Genet & Diagnost Prenatal, Valencia, Spain Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain

Dopazo, Joaquin
论文数: 0 引用数: 0
h-index: 0
机构:
GBPA, Seville, Spain
CIPF, Computat Genom Dept, Valencia, Spain Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain

Borrego, Salud
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain

Antinolo, Guillermo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain
GBPA, Seville, Spain Univ Seville, Univ Hosp Virgen Roci, Inst Biomed Seville, Dept Genet Reprod & Fetal Med,CSIC, Seville, Spain
[17]
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration
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Guymer, RH
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Héon, E
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Lotery, AJ
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Munier, FL
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Schorderet, DF
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Baird, PN
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Haines, H
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Sheffield, VC
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Stone, EM
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ARCHIVES OF OPHTHALMOLOGY,
2001, 119 (05)
:745-751

Guymer, RH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA

Héon, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA

Lotery, AJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA

Munier, FL
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA

Schorderet, DF
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA

Baird, PN
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA

McNeil, RJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA

Haines, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA

Sheffield, VC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA

Stone, EM
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA
[18]
Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier
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Hinzpeter, Alexandre
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Aissat, Abdel
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Sondo, Elvira
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Costa, Catherine
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Arous, Nicole
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Gameiro, Christine
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Martin, Natacha
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Tarze, Agathe
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Weiss, Laurence
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de Becdelievre, Alix
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Costes, Bruno
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Goossens, Michel
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Galietta, Luis J.
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Girodon, Emmanuelle
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Fanen, Pascale
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PLOS GENETICS,
2010, 6 (10)
:1-11

Hinzpeter, Alexandre
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

Aissat, Abdel
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France
Univ Paris Est, Fac Med, UMR S 955, Creteil, France Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

Sondo, Elvira
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Giannina Gaslini, Genet Mol Lab, I-16148 Genoa, Italy Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

Costa, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France
Grp Henri Mondor Albert Chenevier, AP HP, Serv Biochim Genet, Creteil, France Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

Arous, Nicole
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

Gameiro, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Henri Mondor Albert Chenevier, AP HP, Serv Biochim Genet, Creteil, France Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

Martin, Natacha
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

论文数: 引用数:
h-index:
机构:

Weiss, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Strasbourg, Hop Hautepierre, Serv Pediat 1, Strasbourg, France Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

de Becdelievre, Alix
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France
Univ Paris Est, Fac Med, UMR S 955, Creteil, France
Grp Henri Mondor Albert Chenevier, AP HP, Serv Biochim Genet, Creteil, France Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

Costes, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris Est, Fac Med, UMR S 955, Creteil, France Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

Goossens, Michel
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France
Univ Paris Est, Fac Med, UMR S 955, Creteil, France
Grp Henri Mondor Albert Chenevier, AP HP, Serv Biochim Genet, Creteil, France Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

Galietta, Luis J.
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Giannina Gaslini, Genet Mol Lab, I-16148 Genoa, Italy Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

Girodon, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France
Grp Henri Mondor Albert Chenevier, AP HP, Serv Biochim Genet, Creteil, France Hop Henri Mondor, INSERM, Unite U955, F-94010 Creteil, France

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[19]
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
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Jaakson, K
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Hawlina, M
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Meltzer, MR
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Testa, F
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Hoyng, CB
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HUMAN MUTATION,
2003, 22 (05)
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Jaakson, K
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Zernant, J
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Külm, M
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Hutchinson, A
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Tonisson, N
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Glavac, D
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Ravnik-Glavac, M
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Hawlina, M
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Meltzer, MR
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Caruso, RC
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Testa, F
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Maugeri, A
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Hoyng, CB
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Gouras, P
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Simonelli, F
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Lewis, RA
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Lupski, JR
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Cremers, FPM
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA

Allikmets, R
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Ophthalmol, Eye Res Inst, New York, NY 10032 USA
[20]
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
[J].
Khan, Mubeen
;
Cornelis, Stephanie S.
;
Del Pozo-Valero, Marta
;
Whelan, Laura
;
Runhart, Esmee H.
;
Mishra, Ketan
;
Bults, Femke
;
AlSwaiti, Yahya
;
AlTalbishi, Alaa
;
De Baere, Elfride
;
Banfi, Sandro
;
Banin, Eyal
;
Bauwens, Miriam
;
Ben-Yosef, Tamar
;
Boon, Camiel J. F.
;
van den Born, L. Ingeborgh
;
Defoort, Sabine
;
Devos, Aurore
;
Dockery, Adrian
;
Dudakova, Lubica
;
Fakin, Ana
;
Farrar, G. Jane
;
Sallum, Juliana Maria Ferraz
;
Fujinami, Kaoru
;
Gilissen, Christian
;
Glavac, Damjan
;
Gorin, Michael B.
;
Greenberg, Jacquie
;
Hayashi, Takaaki
;
Hettinga, Ymkje M.
;
Hoischen, Alexander
;
Hoyng, Carel B.
;
Hufendiek, Karsten
;
Jaegle, Herbert
;
Kamakari, Smaragda
;
Karali, Marianthi
;
Kellner, Ulrich
;
Klaver, Caroline C. W.
;
Kousal, Bohdan
;
Lamey, Tina M.
;
MacDonald, Ian M.
;
Matynia, Anna
;
McLaren, Terri L.
;
Mena, Marcela D.
;
Meunier, Isabelle
;
Miller, Rianne
;
Newman, Hadas
;
Ntozini, Buhle
;
Oldak, Monika
;
Pieterse, Marc
.
GENETICS IN MEDICINE,
2020, 22 (07)
:1235-1246

Khan, Mubeen
论文数: 0 引用数: 0
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机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Cornelis, Stephanie S.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
Keio Univ, Grad Sch Hlth Management, Tokyo, Japan Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Del Pozo-Valero, Marta
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机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
CIBERER, Fdn Jimenez Diaz, IIS, Dept Genet, Madrid, Spain Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Whelan, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Trinity Coll Dublin, Sch Genet & Microbiol, Dublin, Ireland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Runhart, Esmee H.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Mishra, Ketan
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Bults, Femke
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

AlSwaiti, Yahya
论文数: 0 引用数: 0
h-index: 0
机构:
St John Jerusalem Eye Hosp Grp, East Jerusalem, Palestine Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

AlTalbishi, Alaa
论文数: 0 引用数: 0
h-index: 0
机构:
St John Jerusalem Eye Hosp Grp, East Jerusalem, Palestine Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

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Banfi, Sandro
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy
Telethon Inst Genet & Med TIGEM, Pozzuoli, Italy Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Banin, Eyal
论文数: 0 引用数: 0
h-index: 0
机构:
Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Ophthalmol, Jerusalem, Israel Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

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Ben-Yosef, Tamar
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, Haifa, Israel Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Boon, Camiel J. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Dept Ophthalmol, Med Ctr, Leiden, Netherlands
Univ Amsterdam, Dept Ophthalmol, Med Ctr, Amsterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

van den Born, L. Ingeborgh
论文数: 0 引用数: 0
h-index: 0
机构:
Rotterdam Eye Hosp, Rotterdam, Netherlands
Rotterdam Ophthalm Inst, Rotterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Defoort, Sabine
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Lille, Serv Explorat Vis & Neuroophtalmol, Lille, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Devos, Aurore
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lille, CHU Lille, LilNCog Lille Neurosci & Cognit, U1172,INSERM, F-59000 Lille, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Dockery, Adrian
论文数: 0 引用数: 0
h-index: 0
机构:
Trinity Coll Dublin, Sch Genet & Microbiol, Dublin, Ireland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Dudakova, Lubica
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Paediat & Adolescent Med, Res Unit Rare Dis, Fac Med 1, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Fakin, Ana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Ljubljana, Hosp Eye, Ljubljana, Slovenia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Farrar, G. Jane
论文数: 0 引用数: 0
h-index: 0
机构:
Trinity Coll Dublin, Sch Genet & Microbiol, Dublin, Ireland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Sallum, Juliana Maria Ferraz
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Fed Sao Paulo, Dept Ophthalmol & Visual Sci, Sao Paulo, SP, Brazil Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Fujinami, Kaoru
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Ophthalmol, London, England
Natl Hosp Org Tokyo Med Ctr, Natl Inst Sensory Organs, Div Vis Res, Lab Visual Physiol, Tokyo, Japan
Keio Univ, Grad Sch Hlth Management, Tokyo, Japan
Moorfields Eye Hosp, London, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Gilissen, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

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Gorin, Michael B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Ophthalmol, Stein Eye Inst, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

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Hayashi, Takaaki
论文数: 0 引用数: 0
h-index: 0
机构:
Jikei Univ, Dept Ophthalmol, Sch Med, Tokyo, Japan Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Hettinga, Ymkje M.
论文数: 0 引用数: 0
h-index: 0
机构:
Bartimeus Diagnost Ctr Complex Visual Disorders, Zeist, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Hoischen, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Hoyng, Carel B.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Hufendiek, Karsten
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Eye Hosp, Hannover Med Sch, Hannover, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Jaegle, Herbert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Regensburg, Univ Hosp, Dept Ophthalmol, Regensburg, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Kamakari, Smaragda
论文数: 0 引用数: 0
h-index: 0
机构:
OMMA Ophthalmol Inst Athens, Ophthalm Genet Unit, Athens, Greece Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Karali, Marianthi
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy
Telethon Inst Genet & Med TIGEM, Pozzuoli, Italy Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Kellner, Ulrich
论文数: 0 引用数: 0
h-index: 0
机构:
MVZ ADTC Siegburg GmbH, AugenZentrum Siegburg, Rare Retinal Dis Ctr, Siegburg, Germany
RetinaScience, Bonn, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Klaver, Caroline C. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, Nijmegen, Netherlands
Erasmus MC, Dept Ophthalmol, Rotterdam, Netherlands
Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Kousal, Bohdan
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Paediat & Adolescent Med, Res Unit Rare Dis, Fac Med 1, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic
Charles Univ Prague, Fac Med 1, Dept Ophthalmol, Prague, Czech Republic Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Lamey, Tina M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Ctr Ophthalmol & Visual Sci, Nedlands, WA, Australia
Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Australian Inherited Retinal Dis Registry & DNA B, Nedlands, WA, Australia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

MacDonald, Ian M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Dept Ophthalmol, Edmonton, AB, Canada
Univ Alberta, Dept Med Genet, Edmonton, AB, Canada Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Matynia, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Ophthalmol, Stein Eye Inst, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

McLaren, Terri L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Ctr Ophthalmol & Visual Sci, Nedlands, WA, Australia
Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Australian Inherited Retinal Dis Registry & DNA B, Nedlands, WA, Australia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Mena, Marcela D.
论文数: 0 引用数: 0
h-index: 0
机构:
Consejo Nacl Invest Cient & Tecn, Fdn Inst Leloir, Lab Mol & Cellular Therapy, Buenos Aires, DF, Argentina Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Meunier, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montpellier, INSERM, Inst Neurosci Montpellier, Montpellier, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Miller, Rianne
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Newman, Hadas
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Sourasky Med Ctr, Dept Ophthalmol, Tel Aviv, Israel
Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Ntozini, Buhle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cape Town, MRC Genom & Precis Med Res Unit, Inst Infect Dis & Mol Med IDM, Fac Hlth Sci,Div Human Genet,Dept Pathol, Cape Town, South Africa Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Oldak, Monika
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

Pieterse, Marc
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands