De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Ignacio Briceño Balcazar

doi:10.1016/j.ajhg.2017.01.003

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Ignacio Briceño Balcazar (Another Number Author)

Grupo de Investigación en Genética Humana

Research output: Contribution to journal › Article › peer-review

81 Scopus citations

Translated title of the contribution	De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder
Original language	Undefined/Unknown
Pages (from-to)	352-363
Number of pages	11
Journal	American Journal of Human Genetics
DOIs	https://doi.org/10.1016/j.ajhg.2017.01.003
State	Published - 3 Jan 2017

Article Classification

Full research article

Indexación Internacional (Artículo)

ISI Y SCOPUS

Scopus-Q Quartil

Q1

ISI- Q Quartil

Q1

Categoría Publindex

Ninguno

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10.1016/j.ajhg.2017.01.003License: CC BY-ND

Genetica De La Fisura Labial. Un Consorcio Multicentrico Internacional Fase Ii. Fisuras Orofaciales: Diversidad Sindrómica En Colombia.
Briceño Balcazar, I. (PI), Martinez Lozano, J. C. (Researcher) & Arias Urueña, L. A. (Young researcher)
8/03/12 → 8/09/13
Project: Project Research

Cite this

@article{1de17c46e7b343429711cac3883b940d,

title = "De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder",

author = "\{Brice{\~n}o Balcazar\}, Ignacio",

year = "2017",

month = jan,

day = "3",

doi = "10.1016/j.ajhg.2017.01.003",

language = "Indefinido/desconocido",

pages = "352--363",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

}

TY - JOUR

T1 - De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

AU - Briceño Balcazar, Ignacio

PY - 2017/1/3

Y1 - 2017/1/3

U2 - 10.1016/j.ajhg.2017.01.003

DO - 10.1016/j.ajhg.2017.01.003

M3 - Artículo

SN - 0002-9297

SP - 352

EP - 363

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Article Classification

Indexación Internacional (Artículo)

Scopus-Q Quartil

ISI- Q Quartil

Categoría Publindex

Access to Document

Projects

Genetica De La Fisura Labial. Un Consorcio Multicentrico Internacional Fase Ii. Fisuras Orofaciales: Diversidad Sindrómica En Colombia.

Cite this