Lista de obras - Julia Vodopiutz - Dominio Público Uruguay

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

artículo científico publicado en 2016

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

artículo científico publicado en 2010

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

scientific article published on 03 December 2019

Chest pain in hospitalized patients: cause-specific and gender-specific differences

artículo científico

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

artículo científico publicado en 2016

Coexistence ofKCNV2associated cone dystrophy with supernormal rod electroretinogram andMFRPrelated oculopathy in a Turkish family

Congenital disorders of glycosylation--a challenging group of IEMs

artículo científico publicado en 2008

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

artículo científico publicado en 2015

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

artículo científico publicado en 2012

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics

artículo científico publicado en 2014

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome

artículo científico publicado en 2012

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome

artículo científico

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome

artículo científico publicado en 2009

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy

artículo científico publicado en 2014

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III

scientific article published on 07 June 2007

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

scientific journal article

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria

scientific article published on 17 June 2020

Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis

artículo científico publicado en 2009

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

scientific journal article

Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency

artículo científico publicado en 2007

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

artículo científico publicado en 2015

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

artículo científico publicado en 2014

Lista de obras de Julia Vodopiutz

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

Chest pain in hospitalized patients: cause-specific and gender-specific differences

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

Coexistence ofKCNV2associated cone dystrophy with supernormal rod electroretinogram andMFRPrelated oculopathy in a Turkish family

Congenital disorders of glycosylation--a challenging group of IEMs

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria

Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies