Search research articles
Contact Us
Filters
Showing results (31-40 of 35) with videos related to
Page
of 4
Sort By:
You have reached the last page of results.
This site can display upto 35 results.
Human Mutation
|
February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes
María Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.
Journal of Medical Genetics
|
August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Morad Ansari, Gemma Poke, Quentin Ferry, et al.
Nature Genetics
|
January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Human Molecular Genetics
|
January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Frank J Kaiser, Morad Ansari, Diana Braunholz, et al.
Nature Genetics
|
April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Page
of 4
Search research articles
Search
Showing results (31-40 of 35) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 35 results.
Human Mutation
|
February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes
María Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.
Journal of Medical Genetics
|
August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Morad Ansari, Gemma Poke, Quentin Ferry, et al.
Nature Genetics
|
January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Human Molecular Genetics
|
January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Frank J Kaiser, Morad Ansari, Diana Braunholz, et al.
Nature Genetics
|
April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Page
of 4