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1 . Academic Journal
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
저자
by
Rufino Mondéjar
;
Francisca Solano
;
Rocío Rubio
;
Mercedes Delgado
;
Angel Pérez-Sempere
, et al.
소스
PLoS ONE, Vol 9, Iss 1, p e86286 (2014)
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7 . Academic Journal
Contribution of rare copy number variants to isolated human malformations.
저자
by
Clara Serra-Juhé
;
Benjamín Rodríguez-Santiago
;
Ivon Cuscó
;
Teresa Vendrell
;
Núria Camats
, et al.
소스
PLoS ONE, Vol 7, Iss 10, p e45530 (2012)
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7 .
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome
저자
by
María Antolín
;
Marta Codina-Solà
;
Teresa Vendrell
;
Paula Fernández-Álvarez
;
Ida Paramonov
, et al.
소스
Journal of Medical Genetics
. 59:605-612
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7 .
Further delineation of the phenotype caused by loss of function mutations in PRMT7
저자
by
Eduardo F. Tizzano
;
Teresa Vendrell
;
Maria Segura-Puimedon
;
Paula Fernández-Álvarez
;
Lluís Armengol
, et al.
소스
European Journal of Medical Genetics
. 62:182-185
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7 .
Further delineation of the SOX18 -related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)
저자
by
Elena García-Arumí
;
Gema Ariceta
;
Paula Fernández-Álvarez
;
Irene Valenzuela
;
Teresa Vendrell
, et al.
소스
European Journal of Medical Genetics
. 61:269-272
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7 .
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation
저자
by
Paula Fernández-Álvarez
;
Gemma Giralt
;
Angel Sanchez-Montanez
;
Teresa Vendrell
;
F. Munell
, et al.
소스
European Journal of Medical Genetics
. 60:303-307
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7 .
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region
저자
by
Teresa Vendrell
;
Rosa Miró
;
Eduardo F. Tizzano
;
Anna M. Cueto-González
;
Anna Carrió
, et al.
소스
Cytogenetic and Genome Research
. 146:181-186
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7 .
Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes
저자
by
Isabel Pinto
;
Teresa Vendrell
;
Antonio González-Meneses
;
Atilano Carcavilla
;
Yoko Aoki
, et al.
소스
Medicina Clínica
. 144:67-72
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7 .
MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
저자
by
B. van Lier
;
Luis A. Pérez-Jurado
;
Alexander Hoischen
;
Periklis Makrythanasis
;
I. van der Burgt
, et al.
소스
Clinical Genetics
. 84:539-545
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7 .
Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía
저자
by
Teresa Vendrell
;
Alfredo Santana
;
Begoña Ezquieta
;
Emilia Castillo
;
José L. Santomé
, et al.
소스
Revista Española de Cardiología
. 65:447-455
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