Lista de obras - Ruth Sheffer - Dominio Público Uruguay

A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.

artículo científico publicado en 2006

Autosomal dominant inheritance of Klein-Waardenburg syndrome

artículo científico publicado en 1992

Behr's syndrome and 3-methylglutaconic aciduria

artículo científico publicado en 1992

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

artículo científico publicado en 2019

Disturbed patterns of globin chain synthesis in childhood monosomy 7 myeloproliferative syndrome

artículo científico publicado en 1988

Duodenal web in the syndrome of osteopathia striata with cranial sclerosis

artículo científico publicado en 1996

Early-onset sensorineural hearing loss is a prominent feature of H syndrome

artículo científico publicado en 2010

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

artículo científico publicado en 2015

Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance

artículo científico publicado en 1994

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene

artículo científico publicado en 2014

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

artículo científico publicado en 2003

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

artículo científico publicado en 2012

MRI of mannosidosis

artículo científico publicado en 2001

Measurement of 3-hydroxy-3-methylglutaryl-CoA lyase activity in amniotic cells and in chorionic villi

scientific article published on 01 November 1988

Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia

scientific article published on 03 September 2018

Mucolipidosis type IV: a mild form with late onset

artículo científico publicado en 1993

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

artículo científico publicado en 1993

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function

artículo científico publicado en 2016

Prolonged maternal diet imbalance and recurrent fetuses with congenital anomalies

artículo científico publicado en 1993

Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D

scientific article published on 27 July 2018

Semidominant inheritance in epidermolytic ichthyosis

artículo científico publicado en 2013

[Bernard-Soulier syndrome]

artículo científico publicado en 1986

Lista de obras de Ruth Sheffer

A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.

Autosomal dominant inheritance of Klein-Waardenburg syndrome

Behr's syndrome and 3-methylglutaconic aciduria

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

Disturbed patterns of globin chain synthesis in childhood monosomy 7 myeloproliferative syndrome

Duodenal web in the syndrome of osteopathia striata with cranial sclerosis

Early-onset sensorineural hearing loss is a prominent feature of H syndrome

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

MRI of mannosidosis

Measurement of 3-hydroxy-3-methylglutaryl-CoA lyase activity in amniotic cells and in chorionic villi

Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia

Mucolipidosis type IV: a mild form with late onset

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function

Prolonged maternal diet imbalance and recurrent fetuses with congenital anomalies

Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D

Semidominant inheritance in epidermolytic ichthyosis

[Bernard-Soulier syndrome]