scholarly journals The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

2019 ◽  
Vol 4 (1-2) ◽  
pp. 25-49 ◽  
Author(s):  
Melissa A. Parisi
Keyword(s):  
Molecular Genetics ◽  
Joubert Syndrome ◽  
Phenotypic Heterogeneity

Molecular Genetics of Joubert Syndrome

2014 ◽  
Author(s):  
Francesca Mancini ◽  
Marta Romani ◽  
Alessia Micalizzi ◽  
Enza Maria Valente
Keyword(s):  
Molecular Genetics ◽  
Joubert Syndrome

Introduction

1978 ◽  
Vol 36 (3) ◽  
pp. 543-544
Author(s):  
W. Bernard
Keyword(s):  
Molecular Weight ◽  
Electron Microscope ◽  
Nucleic Acid ◽  
Gene Mapping ◽  
Molecular Genetics ◽  
Cell Biology ◽  
Gene Activity ◽  
Close Connection ◽  
Basic Information ◽  
Simple Systems

In comparison to many other fields of ultrastructural research in Cell Biology, the successful exploration of genes and gene activity with the electron microscope in higher organisms is a late conquest. Nucleic acid molecules of Prokaryotes could be successfully visualized already since the early sixties, thanks to the Kleinschmidt spreading technique - and much basic information was obtained concerning the shape, length, molecular weight of viral, mitochondrial and chloroplast nucleic acid. Later, additonal methods revealed denaturation profiles, distinction between single and double strandedness and the use of heteroduplexes-led to gene mapping of relatively simple systems carried out in close connection with other methods of molecular genetics.

Molecular Genetics Of Acoustic Tumors

1992 ◽  
Vol 25 (5) ◽  
pp. 995-1009
Author(s):  
Michael J. Lanser
Keyword(s):  
Molecular Genetics

Joubert syndrome: long-term follow-up

2004 ◽  
Vol 46 (10) ◽  
Author(s):  
Peter R Hodgkins ◽  
Christopher M Harris ◽  
Fatima S Shawkat ◽  
Dorothy A Thompson ◽  
Kling Chong ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
Long Term Follow Up
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