>
Fa
|
Ar
|
En
journal of human genetics
سال:2017 - دوره:62 - شماره:8
A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
- صفحه:739-740
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
- صفحه:741-746
An adaptive strategy for association analysis of common or rare variants using entropy theory
- صفحه:777-781
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1 ) and PROP1 genes
- صفحه:755-762
Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
- صفحه:737-738
Genetic origin of α 0 -thalassemia (SEA deletion) in Southeast Asian populations and application to accurate prenatal diagnosis of Hb Bart’s hydrops fetalis syndrome
- صفحه:747-754
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
- صفحه:797-801
Successful newborn screening for Gaucher disease using fluorometric assay in China
- صفحه:763-768
TFAP2B mutation and dental anomalies
- صفحه:769-775
The genomic dynamics during progression of lung adenocarcinomas
- صفحه:783-788
Update of the GJB2 /DFNB1 mutation spectrum in Russia: a founder Ingush mutation del( GJB2 -D13S175) is the most frequent among other large deletions
- صفحه:789-795
Copyright 2023
Islamic World Science Citation Center
All Rights Reserved
