4.0 Article

A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

A review of 18p deletions

Minire Hasi-Zogaj et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2015)

Article Genetics & Heredity

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

Kimberly A. Aldinger et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Article Genetics & Heredity

Array CGH analysis of a cohort of Russian patients with intellectual disability

Anna A. Kashevarova et al.

Review Biotechnology & Applied Microbiology

lncRNAs: Insights into their function and mechanics in underlying disorders

Xiaolei Li et al.

MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (2014)

Article Multidisciplinary Sciences

Arhgap28 Is a RhoGAP that Inactivates RhoA and Downregulates Stress Fibers

Ching-Yan Chloe Yeung et al.

PLOS ONE (2014)

Review Cell Biology

Functional Diversity of Laminins

Anna Domogatskaya et al.

ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY, VOL 28 (2012)

Article Biochemistry & Molecular Biology

Mutations in Lama1 Disrupt Retinal Vascular Development and Inner Limiting Membrane Formation

Malia M. Edwards et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Genetics & Heredity

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan et al.

NATURE GENETICS (2010)

Article Genetics & Heredity

Midline defects in deletion 18p syndrome:: clinical and molecular characterization of three patients

Marie-France Portnoi et al.

CLINICAL DYSMORPHOLOGY (2007)

Article Endocrinology & Metabolism

Hearing loss in the laminin-deficient dy mouse model of congenital muscular dystrophy

DM Pillers et al.

MOLECULAR GENETICS AND METABOLISM (2002)

Article Audiology & Speech-Language Pathology

The laminins in the murine inner ear: developmental transitions and expression in cochlear basement membranes

KD Rodgers et al.

HEARING RESEARCH (2001)