Olaf Rittinger

Salzburg, Austria

Last Updated: 09/26/2026

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Found 12 publications

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

Journal: PloS one

Published: May 22, 2017

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Journal: American journal of human genetics

Published: December 07, 2016

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Journal: Human genetics

Published: November 16, 2016

Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.

Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.

Journal: Seizure

Published: July 17, 2016

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

Journal: European journal of human genetics : EJHG

Published: June 09, 2016

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

Journal: European journal of medical genetics

Published: February 19, 2016

Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.

Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.

Journal: European journal of medical genetics

Published: March 25, 2015

ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.

ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.

Journal: American journal of medical genetics. Part A

Published: February 13, 2015

Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature.

Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature.

Journal: American journal of medical genetics. Part A

Published: December 11, 2014

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: August 08, 2014

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

Journal: The Journal of pediatrics

Published: September 10, 2012

Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.

Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.

Journal: Cytogenetic and genome research

Published: February 02, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026