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Ercan Mihci

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Nature Communications|August 8, 2018

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defectsJohanne Dubail, Céline Huber, Sandrine Chantepie, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019

A clinical scoring system for congenital contractural arachnodactylyIlse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.

Plos Genetics|March 28, 2017

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignanciesRocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.

Functional & Integrative Genomics|January 31, 2022

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics ConsortiumMunis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, et al.

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Search research articles

Showing results (41-50 of 44) with videos related to

Sort By:

Pageof 5

You have reached the last page of results.This site can display upto 44 results.

Nature Communications|August 8, 2018

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defectsJohanne Dubail, Céline Huber, Sandrine Chantepie, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019

A clinical scoring system for congenital contractural arachnodactylyIlse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.

Plos Genetics|March 28, 2017

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignanciesRocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.

Functional & Integrative Genomics|January 31, 2022

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics ConsortiumMunis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, et al.

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