16.05.2021 Web of Sc ence [v.5.

34] - WOS Export Transfer Serv ce

Close Web of Science Print

Page 1 (Records 1 -- 4)
[1]


Record 1 of 4
Title: An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18)
Author(s): Park, JM (Park, Jin-Mo); Lee, B (Lee, Byeonghyeon); Kim, JH (Kim, Jong-Heun); Park, SY (Park, Seong-Yong); Yu, J (Yu, Jinhoon); Kim, UK (Kim, Un-
Kyung); Park, JS (Park, Jin-Sung)
Source: SCIENTIFIC REPORTS  Volume: 10  Issue: 1  Article Number: 3295  DOI: 10.1038/s41598-020-60374-y  Published: FEB 24 2020  
Accession Number: WOS:000563276800008
PubMed ID: 32094424
ISSN: 2045-2322
Record 2 of 4
Title: Atypical CHARGE associated with a novel frameshi mutation of CHD7 in a Chinese neonatal patient
Author(s): Xu, YP (Xu, Yan-ping); Shi, LP (Shi, Li-ping); Zhu, JJ (Zhu, Jiajun)
Source: BMC PEDIATRICS  Volume: 18  Article Number: 203  DOI: 10.1186/s12887-018-1181-0  Published: JUN 26 2018  
Accession Number: WOS:000436507000001
PubMed ID: 29945602
Author Identifiers:
Author Web of Science ResearcherID ORCID Number
Zhu, Jiajun    0000-0002-6474-7790 
ISSN: 1471-2431
Record 3 of 4
Title: Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient
and Diagnose Him with CHARGE Syndrome
Author(s): Villate, O (Villate, Olatz); Ibarluzea, N (Ibarluzea, Nekane); Fraile-Bethencourt, E (Fraile-Bethencourt, Eugenia); Valenzuela, A (Valenzuela, Alberto);
Velasco, EA (Velasco, Eladio A.); Grozeva, D (Grozeva, Detelina); Raymond, FL (Raymond, F. L.); Botella, MP (Botella, Maria P.); Tejada, MI (Tejada, Maria-Isabel)
Source: FRONTIERS IN GENETICS  Volume: 9  Article Number: 7  DOI: 10.3389/fgene.2018.00007  Published: JAN 26 2018  
Accession Number: WOS:000423403700001
PubMed ID: 29434620
Author Identifiers:
Author Web of Science ResearcherID ORCID Number
Velasco, Eladio  D-1432-2016  0000-0002-9682-5589 
TEJADA, Maria-Isabel  O-5051-2019  0000-0002-7334-1864 
Ibarluzea, Jesus    0000-0002-6933-5373 
Fraile-Bethencourt, Eugenia   0000-0001-8828-5992 
Grozeva, Detelina    0000-0003-3239-8415 
ISSN: 1664-8021
Record 4 of 4
Title: Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
Author(s): Legendre, M (Legendre, Marine); Abadie, V (Abadie, Veronique); Attie-Bitach, T (Attie-Bitach, Tania); Philip, N (Philip, Nicole); Busa, T (Busa,
Tiffany); Bonneau, D (Bonneau, Dominique); Colin, E (Colin, Estelle); Dollfus, H (Dollfus, Helene); Lacombe, D (Lacombe, Didier); Toutain, A (Toutain, Annick);
Blesson, S (Blesson, Sophie); Julia, S (Julia, Sophie); Martin-Coignard, D (Martin-Coignard, Dominique); Genevieve, D (Genevieve, David); Leheup, B (Leheup,
Bruno); Odent, S (Odent, Sylvie); Jouk, PS (Jouk, Pierre-Simon); Mercier, S (Mercier, Sandra); Faivre, L (Faivre, Laurence); Vincent-Delorme, C (Vincent-
Delorme, Catherine); Francannet, C (Francannet, Christine); Naudion, S (Naudion, Sophie); Mathieu-Dramard, M (Mathieu-Dramard, Michele); Delrue, MA
(Delrue, Marie-Ange); Goldenberg, A (Goldenberg, Alice); Heron, D (Heron, Delphine); Parent, P (Parent, Philippe); Touraine, R (Touraine, Renaud); Layet, V
(Layet, Valerie); Sanlaville, D (Sanlaville, Damien); Quelin, C (Quelin, Chloe); Moutton, S (Moutton, Sebastien); Fradin, M (Fradin, Melanie); Jacquette, A
(Jacquette, Aurelia); Sigaudy, S (Sigaudy, Sabine); Pinson, L (Pinson, Lucile); Sarda, P (Sarda, Pierre); Guerrot, AM (Guerrot, Anne-Marie); Rossi, M (Rossi,
Massimiliano); Masurel-Paulet, A (Masurel-Paulet, Alice); El Chehadeh, S (El Chehadeh, Salima); Piguel, X (Piguel, Xavier); Rodriguez-Ballesteros, M
(Rodriguez-Ballesteros, Montserrat); Ragot, S (Ragot, Stephanie); Lyonnet, S (Lyonnet, Stanislas); Bilan, F (Bilan, Frederic); Gilbert-Dussardier, B (Gilbert-
Dussardier, Brigitte)
Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS  Volume: 175  Issue: 4  Special Issue: SI  Pages: 417-430  DOI:
10.1002/ajmg.c.31591  Published: DEC 2017  
Accession Number: WOS:000417839300004
PubMed ID: 29178447
Author Identifiers:
Author Web of Science ResearcherID ORCID Number
Touraine, Renaud  AAV-1605-2020   
Mercier, Sandra  E-8922-2018   
Sanlaville, Damien  M-4716-2014  0000-0001-9939-2849 
colin, estelle  AAI-2447-2019   
Rossi, Massimiliano  AAO-5615-2020  0000-0002-5797-8152 
GILBERT-DUSSARDIER, Brigitte   0000-0001-7182-9914 
Toutain, Annick    0000-0002-5999-5300 
ATTIE-BITACH, Tania  K-1453-2017  0000-0002-1155-3626 
Lacombe, Didier    0000-0002-8956-2207 
Bilan, Frederic    0000-0001-8589-6018 
Bonneau, Dominique    0000-0002-6886-0969 

https://apps.webofknowledge.com/OutboundServ ce.do?act on=go&d splayC tedRefs=true&d splayT mesC ted=true&d splayUsageInfo=true&v ew… 1/2
16.05.2021 Web of Sc ence [v.5.34] - WOS Export Transfer Serv ce
ISSN: 1552-4868
eISSN: 1552-4876
Close Web of Science Print
Page 1 (Records 1 -- 4)
[1]


Clarivate © 2021 Clarivate Copyright notice Terms of use Privacy statement Cookie policy
Accelerating innovation Sign up for the Web of Science newsletter Follow us 
 


https://apps.webofknowledge.com/OutboundServ ce.do?act on=go&d splayC tedRefs=true&d splayT mesC ted=true&d splayUsageInfo=true&v ew… 2/2