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List of works by Alice Baxová

A new form of rhizo-mesomelic bone dysplasia

scientific article published on 01 January 1995

APOE epsilon4: a potential modulation factor in Rett syndrome.

scientific article published on 5 February 2010

Analysis of common SHOX gene sequence variants and ~4.9-kb PAR1 deletion in ISS patients.

scientific article published in August 2014

Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population.

scientific article published on 7 April 2011

Foramina parietalia permagna: report of nine cases in one family

scientific article published on 01 April 1997

Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort

scientific article

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

scientific article

Lethal kyphomelic dysplasia

scientific article published on 01 April 1996

Micromelic dwarfism--humerus, femur, tibia type. Report of a case

scientific article published on 01 January 1993

Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.

scientific article published on 5 November 2016

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

article

Mutations in ANTXR1 cause GAPO syndrome.

scientific article published on 18 April 2013

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

scientific article

NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

article

Parental consanguinity in two sibs with omodysplasia

scientific article published on 01 February 1994

Post-mortem magnetic resonance imaging and its irreplaceable role in determining CNS malformation (hydranencephaly)--case report.

scientific article

Radiographic abnormalities in Laron dwarfism

scientific article published on 01 January 1994

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis

scientific article published on 14 October 2011

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