Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Ranad Shaheen

Mutations in DONSON Disrupt Replication Fork Stability and Cause Microcephalic Dwarfism

Nature Genetics
Genetics
2017English

Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

American Journal of Human Genetics
Genetics
2019English

Human Mutations in NDE1 Cause Extreme Microcephaly With Lissencephaly

American Journal of Human Genetics
Genetics
2011English

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

American Journal of Human Genetics
Genetics
2013English

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

American Journal of Human Genetics
Genetics
2013English

Expanding the Clinical, Allelic, and Locus Heterogeneity of Retinal Dystrophies

Genetics in Medicine
MedicineGenetics
2015English

Clinical Genomics Can Facilitate Countrywide Estimation of Autosomal Recessive Disease Burden

Genetics in Medicine
MedicineGenetics
2016English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy