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Carlo Marcelis

Showing results (51-60 of 55) with videos related to

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The Journal of Clinical Investigation|September 18, 2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaAymeric Masson, Julien Paccaud, Martina Orefice, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2018
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndromePleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 31, 2019
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndromePleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.
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Showing results (51-60 of 55) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 55 results.
The Journal of Clinical Investigation|September 18, 2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaAymeric Masson, Julien Paccaud, Martina Orefice, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2018
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndromePleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 31, 2019
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndromePleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.
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