Lista de obras - Guillaume Smits - Dominio Público Uruguay

A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome.

artículo científico publicado en 2004

BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems

artículo científico publicado en 2017

Conservation of the H19 noncoding RNA and H19-IGF2 imprinting mechanism in therians

artículo científico publicado en 2008

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2019

DIDA: A curated and annotated digenic diseases database.

artículo científico publicado en 2015

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

artículo científico publicado en 2013

Genetic predictors of ovarian hyperstimulation syndrome in women undergoing in vitro fertilization

artículo científico publicado en 2006

Glycoprotein hormone receptors: determinants in leucine-rich repeats responsible for ligand specificity

artículo científico publicado en 2003

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

artículo científico publicado en 2018

High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.

artículo científico publicado en 2010

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2018

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

artículo científico

Imprinting weaves its web.

artículo científico publicado en 2006

LRRC8 extracellular domain is composed of 17 leucine-rich repeats.

artículo científico publicado en 2004

Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor.

artículo científico publicado en 2004

NOVOPlasty: de novo assembly of organelle genomes from whole genome data

artículo científico publicado en 2017

Non-coding transcripts in the H19 imprinting control region mediate gene silencing in transgenic Drosophila

artículo científico publicado en 2007

Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.

artículo científico publicado en 2003

Premature ovarian aging in mice deficient for Gpr3.

artículo científico publicado en 2005

Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.

artículo científico publicado en 2005

The H19 lincRNA is a developmental reservoir of miR-675 that suppresses growth and Igf1r

artículo científico publicado en 2012

The specificity of binding of glycoprotein hormones to their receptors

artículo científico publicado en 2008

Understanding ovarian hyperstimulation syndrome

artículo científico publicado en 2005

Lista de obras de Guillaume Smits

A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome.

BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems

Conservation of the H19 noncoding RNA and H19-IGF2 imprinting mechanism in therians

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

DIDA: A curated and annotated digenic diseases database.

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Genetic predictors of ovarian hyperstimulation syndrome in women undergoing in vitro fertilization

Glycoprotein hormone receptors: determinants in leucine-rich repeats responsible for ligand specificity

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Imprinting weaves its web.

LRRC8 extracellular domain is composed of 17 leucine-rich repeats.

Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor.

NOVOPlasty: de novo assembly of organelle genomes from whole genome data

Non-coding transcripts in the H19 imprinting control region mediate gene silencing in transgenic Drosophila

Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.

Premature ovarian aging in mice deficient for Gpr3.

Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.

The H19 lincRNA is a developmental reservoir of miR-675 that suppresses growth and Igf1r

The specificity of binding of glycoprotein hormones to their receptors

Understanding ovarian hyperstimulation syndrome