Ricarda Flottmann

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 17 publications

Split hand/foot malformation associated with 20p12.1 deletion: A case report.

Split hand/foot malformation associated with 20p12.1 deletion: A case report.

Journal: European journal of medical genetics

Published: October 22, 2019

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Journal: European journal of human genetics : EJHG

Published: November 30, 2018

Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.

Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.

Journal: The Journal of clinical investigation

Published: July 19, 2018

A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.

A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.

Journal: Molecular syndromology

Published: June 30, 2017

Noncoding copy-number variations are associated with congenital limb malformation.

Noncoding copy-number variations are associated with congenital limb malformation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 12, 2017

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

Journal: European journal of medical genetics

Published: January 11, 2017

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.

Journal: Journal of human genetics

Published: June 24, 2016

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

Journal: American journal of medical genetics. Part A

Published: January 18, 2016

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

Journal: American journal of medical genetics. Part A

Published: October 10, 2015

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.

Journal: Genome research

Published: September 11, 2015

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.

Journal: European journal of human genetics : EJHG

Published: September 11, 2015

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.

Journal: Journal of medical genetics

Published: March 06, 2015

Showing 1-12 of 17

Last Updated: 09/26/2026