Francisca Millan

Francisca Millan

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Francisca Millan

Francisca Millan

Publications by authors named "Francisca Millan"

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21Publications

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Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

Am J Hum Genet 2019 Jun 9;104(6):1073-1087. Epub 2019 May 9.

Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556908PMC
June 2019

Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent.

Am J Med Genet A 2018 12 22;176(12):2907-2910. Epub 2018 Oct 22.

Clinical Genetic Services, NYU Langone Health, New York, New York.

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http://doi.wiley.com/10.1002/ajmg.a.40667
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http://dx.doi.org/10.1002/ajmg.a.40667DOI Listing
December 2018

Lessons from a pair of siblings with BPAN.

Eur J Hum Genet 2016 07 18;24(7):1080-3. Epub 2015 Nov 18.

Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.

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http://dx.doi.org/10.1038/ejhg.2015.242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070893PMC
July 2016

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Am J Hum Genet 2015 Mar 26;96(3):507-13. Epub 2015 Feb 26.

Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375419PMC
March 2015

Chlamydia trachomatis genotypes associated with pneumonia in Chilean infants.

Scand J Infect Dis 2009 ;41(4):313-6

Programme of Microbiology, Faculty of Medicine, University of Chile, Santiago de Chile.

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http://dx.doi.org/10.1080/00365540902744758DOI Listing
June 2009