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1 . Academic Journal
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)
저자
by
Andrea Martin‐Nalda
;
Anna M. Cueto‐González
;
Ana Argudo‐Ramírez
;
Jose L. Marin‐Soria
;
Monica Martinez‐Gallo
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Open Access (Wiley)
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Web of Science
Scopus
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7 . Academic Journal
Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio
저자
by
Neus Castells-Sarret
;
Anna M. Cueto-González
;
Mar Borregan
;
Fermina López-Grondona
;
Rosa Miró
, et al.
소스
Anales de Pediatría, Vol 89, Iss 1, Pp 3-11 (2018)
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis
저자
by
Neus Castells-Sarret
;
Anna M. Cueto-González
;
Mar Borregan
;
Fermina López-Grondona
;
Rosa Miró
, et al.
소스
Anales de Pediatría (English Edition), Vol 89, Iss 1, Pp 3-11 (2018)
Full Text (ScienceDirect)
Full Text (Clinical Key)
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7 .
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia,
RPL13
‐related: Description of 11 further cases
저자
by
Francisca Díaz‐González
;
Manuel Parrón‐Pajares
;
Elsa Lucas‐Castro
;
Silvia Modamio‐HØybjØr
;
Lucia Sentchordi‐Montané
, et al.
소스
Clinical Genetics
.
Scopus
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7 .
Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease
저자
by
Celine Grenier
;
Filipa M. Lopes
;
Anna M. Cueto-González
;
Eulàlia Rovira-Moreno
;
Romy Gander
, et al.
소스
Kidney International Reports
.
Open Access (OpenAIRE)
Scopus
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7 .
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
저자
by
Millan S. Patel
;
Halenur Yavuz-Kienle
;
Alicia P Acyinena
;
Diane Myles-Reid
;
Tim Van Mieghem
, et al.
소스
Human mutation, 42(7), 862-876. Wiley-Liss Inc.
Hum Mutat
Open Access (OpenAIRE)
Web of Science
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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
Full Text (BMJ Journals)
Web of Science
Scopus
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7 .
Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio
저자
by
Fermina López-Grondona
;
Anna M. Cueto-González
;
Alberto Plaja
;
Neus Castells-Sarret
;
Mar Borregan
, et al.
소스
Anales de Pediatría, Vol 89, Iss 1, Pp 3-11 (2018)
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
Open Access (OpenAIRE)
Web of Science
Scopus
JCR 저널정보
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Export
E-Mail
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7 .
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain)
저자
by
Neus Castells
;
Albert Plaja
;
Mónica Martínez-Gallo
;
Andrea Martín-Nalda
;
Anna M. Cueto-González
, et al.
소스
Scientia
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Open Access (OpenAIRE)
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7 .
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype
저자
by
Juan José Menéndez Suso
;
Marta Pacio
;
Juan Manuel Montejo
;
Elena Mansilla
;
Pablo Lapunzina
, et al.
소스
European Journal of Medical Genetics
. 64:104338
Full Text (Clinical Key)
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