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List of works by Ruth Sheffer

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

scientific article

Autosomal dominant inheritance of Klein-Waardenburg syndrome

scientific article

Behr's syndrome and 3-methylglutaconic aciduria

scientific article (publication date: 15 October 1992)

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

scientific article published on 11 April 2019

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

scientific article published on 01 March 1988

Duodenal web in the syndrome of osteopathia striata with cranial sclerosis

scientific article published on 01 June 1996

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

scientific article published in July 2010

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

scientific article

Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance

scientific article published on 01 April 1994

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

scientific article published on 22 October 2014

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

scientific article published on 25 September 2003

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

scientific article

MRI of mannosidosis

scientific article published on 01 November 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

scientific article published on 01 September 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)

scientific article

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

scientific article published on 17 March 2016

Prolonged maternal diet imbalance and recurrent fetuses with congenital anomalies

scientific article published on 01 February 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

scientific article published on 19 April 2013

[Bernard-Soulier syndrome]

scientific article published on 01 September 1986

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