Maria Kirchhoff

Copenhagen, 2100, Denmark

Last Updated: 09/26/2026

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Found 16 publications

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.

Journal: Cold Spring Harbor molecular case studies

Published: November 06, 2020

Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.

Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.

Journal: Molecular syndromology

Published: February 03, 2020

Development of large-scale manufacturing of adipose-derived stromal cells for clinical applications using bioreactors and human platelet lysate.

Development of large-scale manufacturing of adipose-derived stromal cells for clinical applications using bioreactors and human platelet lysate.

Journal: Scandinavian journal of clinical and laboratory investigation

Published: April 18, 2018

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Journal: American journal of human genetics

Published: February 02, 2018

Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome.

Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome.

Journal: European journal of medical genetics

Published: December 12, 2017

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.

Journal: Nature genetics

Published: August 16, 2017

Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.

Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.

Journal: Clinical dysmorphology

Published: April 29, 2017

Comparison of clinical grade human platelet lysates for cultivation of mesenchymal stromal cells from bone marrow and adipose tissue.

Comparison of clinical grade human platelet lysates for cultivation of mesenchymal stromal cells from bone marrow and adipose tissue.

Journal: Scandinavian journal of clinical and laboratory investigation

Published: February 17, 2016

Familial craniosynostosis associated with a microdeletion involving the NFIA gene.

Familial craniosynostosis associated with a microdeletion involving the NFIA gene.

Journal: Clinical dysmorphology

Published: February 26, 2015

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.

Journal: American journal of medical genetics. Part A

Published: September 07, 2014

Enrichment of autologous fat grafts with ex-vivo expanded adipose tissue-derived stem cells for graft survival: a randomised placebo-controlled trial.

Enrichment of autologous fat grafts with ex-vivo expanded adipose tissue-derived stem cells for graft survival: a randomised placebo-controlled trial.

Journal: Lancet (London, England)

Published: October 01, 2013

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Journal: Human genetics

Published: August 08, 2013

Showing 1-12 of 16

Last Updated: 09/26/2026