Lista de obras -

Altered gene expression profiles in the hippocampus and prefrontal cortex of type 2 diabetic rats ⬇️

artículo científico publicado el 27 de febrero de 2012

Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials

artículo científico publicado en 2014

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome ⬇️

artículo científico publicado el 22 de febrero de 2011

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

artículo científico publicado en 2010

Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians

artículo científico publicado en 2017

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

artículo científico publicado en 2012

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

scientific article published on 11 June 2020

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

artículo científico publicado en 2012

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

artículo científico publicado en 2016

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

artículo científico publicado en 2012

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

scientific journal article

Nicolaides-Baraitser syndrome: Delineation of the phenotype

artículo científico publicado en 2009

Ocular measurements in fetal alcohol spectrum disorders

artículo científico publicado en 2020

Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective.

artículo científico publicado en 2011

Prevalence and characteristics of fetal alcohol spectrum disorders.

artículo científico publicado en 2014

Rubinstein-Taybi syndrome in diverse populations

scientific article published on 27 September 2020

Success rates for consent and collection of prenatal biological specimens in an epidemiologic survey of child health

artículo científico publicado en 2016

Lista de obras de

Altered gene expression profiles in the hippocampus and prefrontal cortex of type 2 diabetic rats ⬇️

Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome ⬇️

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Nicolaides-Baraitser syndrome: Delineation of the phenotype

Ocular measurements in fetal alcohol spectrum disorders

Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective.

Prevalence and characteristics of fetal alcohol spectrum disorders.

Rubinstein-Taybi syndrome in diverse populations

Success rates for consent and collection of prenatal biological specimens in an epidemiologic survey of child health