Lista de obras - Quinn Stein - Dominio Público Uruguay

Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism

artículo científico publicado en 2008

Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18.

artículo científico publicado en 2008

Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

artículo científico publicado en 2014

Experiences of Genetic Counselors Practicing in Rural Areas

artículo científico publicado en 2017

First-trimester genetic diagnosis: a series of six cases

artículo científico publicado en 2010

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

scientific article published on 01 May 2015

Genesurance Counseling: Genetic Counselors' Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics.

artículo científico publicado en 2017

Genesurance Counseling: Patient Perspectives.

artículo científico publicado en 2018

Genetic Counseling in Pediatrics

artículo científico publicado en 2018

Genetic and familial factors influencing breast, colon, prostate and lung cancers.

artículo científico publicado en 2010

Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016

article

Identification of a founder mutation for maple syrup urine disease in Hutterites

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

artículo científico publicado en 2014

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

artículo científico publicado en 2018

Newborn screening for cystic fibrosis

artículo científico publicado en 2006

Premature ovarian failure: a phenotypic expression of fragile X premutation.

artículo científico publicado en 2008

Preventing birth defects with folic acid

artículo científico publicado en 2002

Rare deletions at the neurexin 3 locus in autism spectrum disorder

artículo científico publicado en 2012

Screening for mutations in the cystic fibrosis transmembrane regulator gene in an infertility clinic

scientific article published on 07 May 2007

Solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey

artículo científico publicado en 2012

The influential role of genes in obesity

artículo científico publicado en 2011

Three-dimensional ultrasound to detect Apert syndrome and improve patient understanding

artículo científico publicado en 2011

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

artículo científico publicado en 2006

Lista de obras de Quinn Stein

Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism

Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18.

Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

Experiences of Genetic Counselors Practicing in Rural Areas

First-trimester genetic diagnosis: a series of six cases

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

Genesurance Counseling: Genetic Counselors' Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics.

Genesurance Counseling: Patient Perspectives.

Genetic Counseling in Pediatrics

Genetic and familial factors influencing breast, colon, prostate and lung cancers.

Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016

Identification of a founder mutation for maple syrup urine disease in Hutterites

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Newborn screening for cystic fibrosis

Premature ovarian failure: a phenotypic expression of fragile X premutation.

Preventing birth defects with folic acid

Rare deletions at the neurexin 3 locus in autism spectrum disorder

Screening for mutations in the cystic fibrosis transmembrane regulator gene in an infertility clinic

Solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey

The influential role of genes in obesity

Three-dimensional ultrasound to detect Apert syndrome and improve patient understanding

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening