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Francesca Piceci-Sparascio

Showing results (11-20 of 18) with videos related to

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American Journal of Human Genetics|September 9, 2022
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary ciliaAsier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, et al.
International Journal of Molecular Sciences|February 3, 2021
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)Valentina Guida, Luciano Calzari, Maria Teresa Fadda, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeFrancesca Piceci-Sparascio, Lucia Micale, Barbara Torres, et al.
Clinical Genetics|May 14, 2021
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defectsValentina Guida, Francesca Piceci Sparascio, Laura Bernardini, et al.
American Journal of Human Genetics|October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation SyndromeAdrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.
American Journal of Human Genetics|July 30, 2020
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical SpectrumMarialetizia Motta, Luca Pannone, Francesca Pantaleoni, et al.
Nature Communications|April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomiaKe Mao, Christelle Borel, Muhammad Ansar, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
American Journal of Human Genetics|September 9, 2022
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary ciliaAsier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, et al.
International Journal of Molecular Sciences|February 3, 2021
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)Valentina Guida, Luciano Calzari, Maria Teresa Fadda, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeFrancesca Piceci-Sparascio, Lucia Micale, Barbara Torres, et al.
Clinical Genetics|May 14, 2021
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defectsValentina Guida, Francesca Piceci Sparascio, Laura Bernardini, et al.
American Journal of Human Genetics|October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation SyndromeAdrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.
American Journal of Human Genetics|July 30, 2020
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical SpectrumMarialetizia Motta, Luca Pannone, Francesca Pantaleoni, et al.
Nature Communications|April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomiaKe Mao, Christelle Borel, Muhammad Ansar, et al.
Pageof 2